LCA Blog

Gene therapy safety and success proven once again

2008-05-04T19:54:00.002+02:00

The news just came in. A third gene therapy trial for Leber Congenital Amaurosis caused by mutations in RPE65, carried out at the University of Florida, has proven safe, and has led to improvement of vision in 4 out of the 6 participants. Only a few days ago, the world of science was shaken by similar results obtained by 2 analogous trials conducted in London and in the US (see previous posts).

More to come for sure!

Message from David Brint, President of FRR

2008-05-01T23:41:00.001+02:00

Dear Friends:
As some of you may have heard, Jean Bennett at the Children's Hospital of Philadelphia has announced the initial results of the RPE 65 gene therapy trial. Jean has reported that all three of the injected patients have had some restored vision. This includes vision of up to three lines on an eye chart andimproved ambulatory vision.
This is the most significant result for the restoration of sight in history.
You all should know that the current trial is only a safety trial and has only included a half dose of the gene. What this all means is that the gene vectoris not causing any health problems to date and that the results may improve with increased dosing.
Gene therapy will be a potential treatment for all forms of LCA where photoreceptors are intact.
The FRR has been a supporter of Jean Bennett's work and we are proud of her team's accomplishment.
The attached web links will give you more information
http://abcnews.go.com/Health/wireStory?id=4737873 http://content.nejm.org/cgi/content/full/NEJMoa0802268
Sincerely,
David Brint
President FRR

Clinical trial recap

2008-04-29T22:44:00.003+02:00

So after the initial chaotic excitement, let us try to recap:
two separate gene therapy trials for RPE65 LCA proved the treatment is safe and can work. One was carried out in England, at Moorfields Eye Hospital and the University College London, the other at the Children’s Hospital of Philadelphia in collaboration with The University of Pennsylvania, the Seconda Università of Naples and the Telethon Institute of Genetics and Medicine, also of Naples - go Italy!
Both trials enrolled three patients. The treatment proved safe for all six patients, and it improved vision in all three subjects in the Italian/US trial and in 1 of the London trial.

Both papers were published in the New England Journal of Medicine on the same day. Here are the links to the articles’ abstracts

London trial

US/Italian trial

Certainly a lot to absorb, but the message is simple: the road to future trials for Leber's Congenital Amaurosis and other retinal genetic disorders is now open!

Italian/US LCA gene therapy trial also successful!!

2008-04-28T20:46:00.001+02:00

Gene therapy improves vision in patients with congenital retinal disease

Patients' vision improved from detecting hand movements to reading lines on eye chart

In a clinical trial at The Children’s Hospital of Philadelphia, researchers from The University of Pennsylvania have used gene therapy to safely restore
vision in three young adults with a rare form of congenital blindness. Although the patients have not achieved normal eyesight, the preliminary results
set the stage for further studies of an innovative treatment for this and possibly other retinal diseases.

An international team led by The University of Pennsylvania, The Children’s Hospital of Philadelphia, the Second University of Naples and the Telethon Institute
of Genetics and Medicine (both in Italy), and several other American institutions reported their findings today in an online article in the New England
Journal of Medicine.

“This is the first gene therapy trial for a nonlethal pediatric condition,” said Albert M. Maguire, M.D., Associate Professor, Department of Ophthalmology,
University of Pennsylvania School of Medicine and a physician at The Children’s Hospital of Philadelphia. Maguire, together with his wife, Jean Bennett,
M.D., Ph.D., Professor of Ophthalmology at Penn and Senior Investigator at the F.M. Kirby Center for Molecular Ophthalmology at Penn’s Scheie Eye Institute,
have been researching inherited retinal degenerations such as Leber congenital amaurosis (LCA), for 18 years. LCA is a group of inherited blinding diseases
that damages light receptors in the retina. It usually begins stealing sight in early childhood and causes total blindness during a patient’s twenties
or thirties. Currently, there is no treatment for LCA.

“Patients’ vision improved from detecting hand movements to reading lines on an eye chart,” Maguire added. In 2001, Bennett and Maguire were part of a team
which reported successfully reversing blindness using gene therapy on dogs affected by the same naturally occurring form of congenital blindness.

The current study is sponsored by the Center for Cellular and Molecular Therapeutics at The Children’s Hospital of Philadelphia, directed by Katherine A.
High, M.D. High, a study leader and an Investigator of the Howard Hughes Medical Institute, has been a pioneer in translational and clinical studies of
gene therapy for genetic disease, and in 2005 initiated a collaboration with Bennett and her group to translate their exciting animal findings into a clinical
study.

The scientists used a vector, a genetically engineered adeno-associated virus, to carry a normal version of the gene, called RPE65, that is mutated in one
form of LCA. Three patients, ages 19, 26 and 26, received the gene therapy via a surgical procedure performed by Maguire between October 2007 and January
2008 at The Children’s Hospital of Philadelphia, where the gene vector was manufactured at the hospital’s Center for Cellular and Molecular Therapeutics
(CCMT).

Starting two weeks after the injections, all three patients reported improved vision in the injected eye. “Standard vision tests showed significantly improved
vision in the patients,” said Alberto Auricchio, M.D., a study leader from the Telethon Institute of Genetics and Medicine and University of Naples Federico
II. The researchers also reported that each injected eye became approximately three times more sensitive to light, and each was improved compared to the
uninjected, previously better functioning eye.

The LCA gene therapy vector showed no signs of causing inflammation in the retina or other toxic side effects. One of the three patients had an adverse
event, a hole in the retina that did not affect eyesight and may have been surgery-related, rather than related to biological effects of the therapeutic
gene or the vector used to carry it.

The patients enrolled in the study to date were identified at the Department of Ophthalmology at the Second University of Naples, an institution with long-standing
experience in collecting and studying patients with inherited retinal diseases, under the supervision of Francesca Simonelli, M.D.

Testing continued over a period of six months following the gene therapy vector administration. One patient was better able to navigate an obstacle course
compared to before the injection. The patients also had less nystagmus, an involuntary movement of the eyes that is common in LCA. In the patient who experienced
better vision even in the uninjected eye, the researchers suggest that the reduced nystagmus benefited both eyes.

“The current clinical trial will continue with more patients and with ongoing follow-up to monitor results,” said Bennett. “We expect improvements to be
more pronounced if treatment occurs in childhood, before the disease progresses.”

“This result is important for the entire field of gene therapy,” notes High, a past president of the American Society of Gene Therapy. “Gene transfer has
been in clinical trials for over 15 years now, and although it has an excellent safety record, examples of therapeutic effect are still relatively few.
The results in this study provide objective evidence of improvement in the ability to perceive light, and thus lay the groundwork for future studies in
this and other retinal disorders,” said High.

The pace of moving from pre-clinical discoveries into clinical trials has typically been slow in the field of gene therapy due to the breadth of expertise
required, ranging from in-depth knowledge of the disorder to detailed understanding of vector design, manufacture, and pre-clinical evaluation. The complexities
of regulatory oversight at both the federal and local levels also present challenges. Through the Center for Cellular and Molecular Therapeutics, The Children’s
Hospital of Philadelphia has developed concentrated expertise and substantial resources to facilitate the “bench to bedside” translation of gene therapy.

###

The scientists at the Clinical Vector Core at CCMT have over 30 years experience in the biopharmaceutical industry and in 2007 were awarded a National Institutes
of Health contract for clinical grade vector production for trials throughout the United States, attesting to the quality of their vector manufacture.
The CCMT’s dedicated regulatory affairs support has specialized expertise in clinical gene therapy and coordinates trial approvals from multiple scientific
and ethic review committees, manages the study activities at all clinical sites, and ensures compliance with international quality standards for conducting,
monitoring, and reporting clinical trials.

The clinical trial was sponsored and primarily funded by the Center for Cellular and Molecular Therapeutics at The Children’s Hospital of Philadelphia.
Research support was received from The Department of Ophthalmology at the University of Pennsylvania, the F.M. Kirby Foundation, the Foundation Fighting
Blindness, Research to Prevent Blindness, the Macula Vision Foundation, the Paul and Evanina Mackall Foundation Trust at the Scheie Eye Institute, the
Rosanne H. Silbermann Foundation, the Italian Telethon Foundation, the Associazione Italiana Amaurosi Congenita di Leber, the National Center for Research
Resources, the Howard Hughes Medical Institute, the National Eye Institute of the National Institutes of Health, private philanthropy, and an anonymous
donor who is committed to advancing pediatric medicine through maximizing the potential of gene therapy.

About The Children’s Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through
its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major
research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among
the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs
have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit
http://www.chop.edu.

About the Center for Cellular and Molecular Therapeutics at The Children’s Hospital of Philadelphia: The Center for Cellular and Molecular Therapeutics
was established in 2005, with a mission of fostering a multidisciplinary approach to the development of new cell and gene therapies for the treatment of
serious and debilitating childhood disorders. The Center conducts cutting edge research in gene transfer, gene regulation, gene discovery, stem cell biology,
experimental models of disease, and correction of genetic disease. Consistent with Children’s Hospital’s research mission to transform scientific insights
into improved medical therapies, the Center has the capacity to support rapid translation of promising results from the laboratory to the clinic, through
facilities for manufacturing clinical-grade gene therapy vectors for clinical studies, and through specialized regulatory support for the design and implementation
of clinical trials of complex, novel classes of therapeutics.

About The University of Pennsylvania School of Medicine’s Department of Ophthalmology and The Scheie Eye Institute: Scheie Eye Institute is the Department
of Ophthalmology at the University of Pennsylvania. Its ten clinical divisions include the Division of Pediatric Ophthalmology which is housed at The Children’s
Hospital of Philadelphia. The Department of Ophthalmology (
http://www.uphs.upenn.edu/ophthalmology)
is also home to the F.M. Kirby Center for Molecular Ophthalmology, founded in 1994 with a generous gift from the F.M. Kirby Foundation, which has provided
continuous support for the ongoing research for the past 14 years. The F.M. Kirby Center was the first molecular biology center devoted to developing gene
therapy for hereditary causes of vision loss. The Center serves as home to the laboratories of seven investigators who conduct research on the cellular
and molecular biology of eye disease and visual function. Current studies in the F.M. Kirby Center include evaluations of the molecular genetics and pathogenetic
mechanisms involved in optic nerve disease and inherited retinal and macular degenerations, cell biology studies of photoreceptor sensory cilia, delineation
of mechanisms underlying the light responses of rods and cones, gene discovery of complex and monogenic disorders, development of methods with which to
non-invasively monitor retinal and visual function in animal models and humans, and design of novel methods with which to image retinal cells. (
http://www.uphs.upenn.edu/news)

The Department of Ophthalmology (Scheie Eye Institute) at Penn is a world leader in patient care and eye and vision research. In 2006, the most recent year
for which published data are available, Scheie Eye Institute was the #1 recipient of eye research funds from the National Eye Institute, National Institutes
of Health among all departments of ophthalmology in the United States. Currently the National Eye Institute is funding a 46-site randomized clinical trial
to evaluate treatment strategies for age-related macular degeneration coordinated by faculty at Scheie Eye Institute at Penn.

About The Telethon Institute of Genetics and Medicine (TIGEM): TIGEM is a local and international reference for research on human genetic diseases. It was
created in 1994 by the Telethon Foundation, one of Italy's major non-profit organizations, to promote the advancement of research aimed at the diagnosis,
cure and prevention of human genetic diseases. TIGEM's mission is to understand the mechanisms of genetic diseases and to develop preventive and therapeutic
strategies. Since its establishment, the Institute has grown considerably. It now consists of a large fully refurbished site, and comprises 13 independent
research groups with over 170 members including graduate students, postdoctorate fellows, technicians and administration. The scope of the science currently
covered at TIGEM spans three disease research area: developmental disorders, inborn errors of metabolism and inherited eye diseases. Research approaches
include cell biology, functional genomics, systems biology and gene therapy. TIGEM offers training programs in medical and human genetics, in cooperation
with local and international universities such as the British Open University. Research activity at TIGEM is supported by core facilities dedicated to
providing state-of-the-art technology as well as housekeeping assistance.

About the Howard Hughes Medical Institute (HHMI): HHMI, a non-profit medical research organization that ranks as one of the nation's largest philanthropies,
plays a powerful role in advancing biomedical research and science education in the U.S. In the past two decades HHMI has made investments of more than
$8.3 billion for the support, training, and education of the nation's most creative and promising scientists. HHMI's flagship program in biomedical research
rests on the conviction that scientists of exceptional talent, commitment, and imagination will make fundamental biological discoveries for the betterment
of human health if they receive the resources, time, and freedom to pursue challenging questions. The 298 investigators of HHMI, selected through rigorous
national competitions, include 12 Nobel Prize Winners and 122 members of the National Academy of Sciences. Founded in 1953 by Howard R. Hughes, the aviator
and industrialist, HHMI is headquartered in Chevy Chase, Maryland, and employs more than 2,600 individuals across the U.S

Results of world’s first gene therapy for inherited blindness show sight improvement!

2008-04-27T14:30:00.003+02:00

UCL PRESS RELEASE

UK researchers from the UCL Institute of Ophthalmology and Moorfields Eye Hospital have announced results from the world’s first clinical trial to test a revolutionary gene therapy treatment for a type of inherited blindness. The results, published today in the New England Journal of Medicine, show that the experimental treatment is safe and can improve sight. The findings are a landmark for gene therapy technology and could have a significant impact on future treatments for eye disease.

The trial, which received funding from the Department of Health, represented a world first when it began in February 2007. It involves young patients with a condition called Leber’s congenital amaurosis (LCA), a rare inherited eye disease caused by an abnormality in a gene called RPE65. The condition appears at birth or in the first few months of life and causes progressive deterioration and loss of vision. There are currently no effective treatments available. The trial’s purpose was firstly to find out whether gene therapy for retinal disease is safe, and secondly to find out if it can benefit vision in young adults who already have advanced retinal disease.

Crucially, the experimental treatment was found to cause no side effects in this trial. Following the treatment, the three patients involved underwent a series of tests designed to establish the effects of the therapy on vision. They all achieved levels of vision at least equivalent to before the operation, but one patient (Steven Howarth, 18) benefited from significantly improved night vision. This was demonstrated by his ability to negotiate a specially constructed simulation of a night-time street scene. Before the operation he completed the task slowly and made several mistakes, but following the surgery he was able to navigate quickly and without mistakes.

The researchers believe the operation’s success for this particular patient could be because his disease had not progressed to the same extent as the others. The other two patients may also still benefit from the new treatment in the future, but it will be some time before this becomes apparent. The team have already begun to trial the technique in younger patients, where they hope to achieve even better results.

The team conducting the trial, from the joint Moorfields Eye Hospital/UCL Institute of Ophthalmology NIHR Biomedical Research Centre, is led by Professor Robin Ali and includes eye surgeon Mr James Bainbridge and retinal specialist Professor Tony Moore. The technique used in the trial involved inserting healthy copies of the missing RPE65 gene into the cells of the retina to help them to function normally. This involved an operation which delivered the normal genes to the retina, using a harmless virus or ‘vector’ to carry the gene into the cells – the vector was manufactured by US company Targeted Genetics.

Commenting on the findings, Professor Ali said: “Showing for the first time that gene therapy can work in patients with eye disease is a very significant milestone. This trial establishes proof of principle of gene therapy for inherited retinal disease and paves the way for the development of gene therapy approaches for a broad range of eye disorders.”

Explaining the technique, Mr James Bainbridge, who leads the surgical team, said: "We developed surgical techniques to enable access to the cells beneath the retinas of patients, using a very fine needle to deliver the modified virus in a controlled retinal detachment that resolves as the vector is absorbed. It is tremendously exciting to see that this technique is safe in an extremely fragile tissue and can improve vision in a condition previously considered wholly untreatable."

Professor Moore said: “It is very encouraging to see that this treatment can work, even in young adults who have severely advanced disease. We anticipate an even better outcome in the younger patients we are now beginning to involve as the trial proceeds, as we will be treating the disease in the early stages of its development.”

Professor Ali added: “These results give us great confidence that this technique is safe and can bring real benefit to patients with impaired vision. While we’re very excited about the improvement in Steven’s vision, it’s important to emphasise that gene therapy is still an experimental treatment not yet generally available to patients. The technique will be tested in other patients with LCA and we also hope to begin trials for other forms of retinal disease in the future.”

About Moorfields Eye Hospital/UCL Institute of Ophthalmology NIHR Biomedical Research Centre

The Centre was established in April 2007, funded by the Department of Health through the National Institute for Health Research (NIHR). It is one of 12 NHS-university partnerships that have been awarded Biomedical Research Centre status, following an international peer reviewed competition based on an outstanding international reputation for medical research and expertise, and experience of translating that research into the clinical setting.

The results from this gene therapy trial are the first significant outcome from the establishment of the centre, and strongly demonstrate its purpose - to conduct translational research designed to take advances in basic medical research from the laboratory to the clinic, enabling patients to benefit more quickly from new scientific breakthroughs.

About UCL Institute of Ophthalmology

UCL Institute of Ophthalmology is one of a number of specialised research centres linked to UCL (University College London) and is, together with Moorfields Eye Hospital, one of the leading centres for eye research. The Institute scored 5*A (the highest possible rating) in the last Research Assessment Exercise and is committed to a multi-disciplinary research portfolio that furthers an understanding of the eye and visual system, linked with clinical investigations targeted to specific problems in the prevention and treatment of eye disease. The combination of the Institute’s research resource with the resources of Moorfields Eye Hospital, which has the largest ophthalmic patient population in the Western World, opens the way for advances at the forefront of vision research.

About Moorfields Eye Hospital NHS Foundation Trust

Founded in 1804 and opened in 1805, Moorfields Eye Hospital is one of the world’s leading centres for ophthalmic treatment, teaching, and research. It is the oldest and largest specialist eye hospital in the world, and became one of the UK’s first NHS Foundation Trusts in 2004. More than half the ophthalmologists practicing in the UK, and many more overseas, have received specialist training at Moorfields. As well as its main site based on City Road, EC2 the Trust has over 1,300 staff spread over ten sites in Greater London. They are able to treat the entire range of eye diseases
from cataracts, to more complex conditions, and patients come to them from all over the UK and the world.

Story taken from
http://www.ucl.ac.uk/ioo/research/patients/clinical_trials.html

LCA gene therapy trial: directly from the first participant

2008-01-16T18:30:00.000+01:00

After introducing himself on this blog a while ago (and what a big surprise that was!), Billy, the first LCA patient to take part in a gene therapy clinical trial, has joined the LCA mailing list and bravely faced the flood of questions that obviously came his way.

Amber, a member of the LCA list who runs a very interesting and informative site on LCA, has patiently put together Billy’s comments and replies, which are now available on her web site at
http://www.wonderbaby.org/articles/lca-gene-therapy-trials.html

Do read this incredible developing story, and stick around for more!

I personally thank Amber for her work, and once again I thank Billy for being willing to share his experience with all of us.

Fran

It's time for the next LCA conference!

2008-01-14T19:46:00.000+01:00

LCA Research is going strong, more genes are being discovered, animal experimentation is under way in so many labs, even human trials have begun! It’s really time for another LCA conference!

The Foundation for Retinal Research is partnering with Project 3000 for this year’s LCA Conference, a unique opportunity to learn first hand the most current information on LCA directly from the researchers and doctors who are working on it.

Medical exams, ERGs and retinal photographs will also be offered through the Cole Eye Institute at the Cleveland Clinic. These exams will be offered on Thursday, July 24 and Friday, July 25. The conference itself will be held on July 26th and July 27th at the InterContinental Hotel and Conference Center.

Please visit the FRR web site
http://www.tfrr.org
to receive more information, to register for the conference and to request medical exams. Please make your reservations quickly as space is limited.

Note: for hotel reservations call the hotel and ask for the LCA rate. Booking on the web site will not give you access to the discounted rates.

One more LCA trial for RPE65

2007-11-20T21:02:00.000+01:00

Great news!
Phase 1 gene therapy clinical trials for Leber's Congenital Amaurosis caused by RPE65 have begun at the University of Pennsylvania and the University of Florida! One volunteer patient has received an injection of genes into the retina of one eye. The injection was performed by Shalesh Kaushal, MD, PhD, assistant
professor of ophthalmology at the University of Florida. Six adults and three children between the ages of 8 and 17 years are scheduled to undergo the procedure at the university over the next year.

This is the second gene therapy trial for RPE65, commencing only a few months after the one currently underway at London’s Moorfields Hospital. It will take a while before results from both trials are disclosed, however if things go well the good news should start to leak out soon.

The Foundation for Retinal Research Newsletter, October 2007

2007-10-25T19:32:00.000+02:00

FRR VisionsThe newsletter for families and supporters of the Foundation for Retinal Research October 2007 www.TFRR.org • info@tffr.org • 1-224-927-5063 Sally Lewinski, editorFamily to FamilyA team of doctors at Children’s Hospital of Philadelphia (CHOP) has been given approval to carry out a clinical trial evaluating gene therapy for a form of Leber Congenital amaurosis (LCA) caused by mutations in the RPE65 gene (see attached brochure). This new experimental procedure has been rigorously tested in animals since the first injection performed in the famous dog, Lancelot, in July 2000 (Lancelot is still enjoying vision and occasionally leaves his children and grandchildren at the University of Pennsylvania to attend meetings and fundraisers.) The safety and efficacy data funded, by the NEI/NIH, Research to Prevent Blindness, and Foundation Fighting Blindness, have been published in peer-reviewed journals, and have been reviewed carefully by a large set of committees, including the CHOP Institutional Review Board (IRB) and the Food and Drug Administration (FDA). Studies in adults with this disease have initiated or soon will be initiated at other sites (Moorfields Eye Hospital and University of Florida, Gainesville). Because there may be a higher likelihood of restoration of vision in a pediatric population than in an adult population, the Principal Investigator of the CHOP trial, Dr. Albert Maguire, argued at the Recombinant DNA Advisory Committee (RAC) at the National Institutes of Health (NIH) in December 2005, that the risk/benefit ratio of a clinical trial in a pediatric population with this disease is acceptable. There are several gene therapy studies that have been or are in the process of being performed in adults with ocular diseases. The strategies include delivery of a compound thought to inhibit blood vessel growth in individuals with the “wet” form of macular degeneration, and delivery of encapsulated cells engineered to secrete a neurotrophic factor to individuals with retinitis pigmentosa. The only ocular gene therapy trial performed to date in pediatric subjects was one aiming at treating the deadly eye cancer called retinoblastoma. Gene delivery in that trial was deemed safe, and there was even some evidence of efficacy. The trial for LCA-RPE65 at CHOP is the first study involving older children (and young adults) with retinal degeneration. If the treatment is shown to be safe in this trial, younger subjects could be enrolled in future studies. This study could also pave the way for developing treatments not only for this form of LCA but for other genetic forms of LCA and other retinal degenerative diseases. Children’s Hospital of Philadelphia, which has been recognized by US News and World Report (and also Parents Magazine and Child Magazine) as the best Children’s Hospital in the USA for the past 5 years (http://www.chop.edu/consumer/news/story.jsp?id=86934), has been extremely supportive of the pediatric clinical trial for LCA-RPE65. A unique aspect of this study compared to studies that involve adult subjects, lies in the differences in evaluating and treating children versus adults. It is well recognized that developmentally, cognitively, anatomically, and medically, the pediatric patient is unique and fundamentally different from the adult. For example, most institutions do not have the experience that CHOP has in obtaining assent of a child (and permission of the parents) for participating in a clinical trial. Methodology and instrumentation that has been widely used in the assessment and treatment of adults have not been validated in children, and in many cases, are irrelevant. Dr. Eric Pierce, a Sub-Investigator in the LCA-RPE65 clinical trial at CHOP, has established the first Center for Pediatric Hereditary Retinal Degenerations in the USA. He and Dr. Maguire also work closely with other physicians at CHOP who have vast clinical trial experience for diseases such as Retinopathy of Prematurity and amblyopia. In addition, Dr. Maguire has clinical trial experience for a number of other pediatric and adult eye conditions, including studies involving age-related macular degeneration, retinal holes, uveitis, and the ocular complications of AIDS. CHOP has a tradition of investing heavily in the development of new treatments which can save lives and improve the quality of life for children. Among the historical research breakthroughs that have made CHOP an international pioneer in pediatric medicine are the use of gamma globulin for prevention of hepatitis A and B, discovery of the association between infectious mononucleosis and Epstein-Barr virus infection, vaccines against measles, mumps, rubella, whooping cough and influenza, the development of a balloon catheter for use in cardiology, the invention of the isolate incubator for newborns, the first in-depth understanding of “shaken baby syndrome,” and the generation of methods for changing sickle-shaped red blood cells. The legacy of pediatric breakthroughs continues today, exemplified by the recent development and approval of the rotavirus vaccine. Recently, CHOP established the Center for Cellular and Molecular Therapeutics (CCMT), Dr. Katherine High, Director. The CCMT is a team of highly regarded scientists and physicians engaged in development of genetic therapies. The CCMT has been working closely with the scientific director of the trial, Dr. Jean Bennett, a professor of ophthalmology at University of Pennsylvania’s Scheie Eye Institute, and Dr. Jeannette Bennicelli, a senior scientist in the Bennett laboratory, to plan this trial. The CCMT includes a Clinical Grade Vector Core, which develops the pharmaceutical grade reagents that are used in clinical trials. The Director of that facility, Dr. Fraser Wright, has extensive industry experience in generating reagents used for clinical studies in Parkinson’s disease and hemophilia. Further, Jennifer McDonnell, Dr. Valder Arruda, and other members of the Center have extensive experience with regulatory and administrative issues related to clinical gene transfer, and issues of special importance in the pediatric research population. Finally, the Center is very familiar with the practical issues that are faced in carrying out clinical trials, including logistics of travel and accommodation of children and their parents. For the LCA-RPE65 study, CCMT has engaged a first rate clinical coordinator, Kathleen Marshall, who has over 25 years experience in diagnosis and treatment of ophthalmic disorders in children. Finally, CCMT has assisted in developing an additional outcome center for this trial in Naples, Italy, so that participants from Europe can be evaluated after injection closer to home. Clinical outcome centers in additional countries, including Brazil, are in the process of being established. The LCA-RPE65 clinical trial has also received substantial support from University of Pennsylvania’s Scheie Eye Institute and the Department of Ophthalmology and the F.M. Kirby Foundation. Several of the physicians and scientists, including Drs. Maguire, Pierce, and Bennett, have primary appointments in this Institute and their laboratories are in the F.M. Kirby Center for Molecular Ophthalmology at University of Pennsylvania.Dr. MaguireChildren’s Hospital of Philadelphia enrolling LCA patients for clinical trialsBy Atom and Sonja Biggs"Your boy weighs 7 lbs., 15 oz. He would have been 8 lbs. if he hadn't peed on the way out," said the nurse jokingly. In every way our firstborn son seemed perfectly healthy and happy as he ate and grew and learned how to crawl like any other baby. At age one Brandon learned how to walk. As he became more adept at locomotion he also encountered more frequent collisions, most often with tall, slender objects like table legs, or toys and furniture that had been moved from their usual spots. We also observed strange behavior at the dinner table. When food was placed in front of Brandon, instead of looking for it he would stare off into the distance, patting around with his hand until he found his food. Was he absorbed in thought? Clumsy? Or was there something wrong with his vision?We first brought Brandon to an optometrist who assured us that many young toddlers are bit farsighted and that as first-time parents we might be a bit oversensitive. The next 3 months were fraught with more and more accidents. Finally, after a couple of bloody collisions at Sonja's mother's home, we took him to see a pediatric ophthalmologist. Tests showed extensive retinal degeneration. "Your son is mostly blind in both eyes," we were informed, "and may lose all of his sight as he gets older."(Continued on page 5)In spite of his parents' worries and concerns, Brandon insisted upon growing up like any other little boy. He was throwing snowballs, hiking trails, and assembling his new baby brother's crib. When we informed Brandon that he would never be able to drive a car, he developed a determination to somehow obtain a car. At age 5 Brandon started raising baby hamsters and selling them to the pet store. With the money he raised from hamster sales and from watching over his new baby brother Brandon bought himself a kidsize electric jeep. He spent hours puttering around our spacious back yard, his little brother belted into the passenger seat.At age 6 dad tried unsuccessfully to teach Brandon how to stay up on a bicycle. But Brandon wasn't ready to give up. All winter long Brandon practiced in the basement of his house, and that spring he emerged outside riding like a champ!Brandon continued to grow up with a spirit of determination and tenacity. Joining 4H, he showed first hamsters, then chickens, lambs, and rabbits. Loving to receive awards Brandon quickly plastered his walls with ribbons, plaques, and trophies. He was competitive in track & field and cross country running. But when Brandon said he wanted to try out for 7th grade basketball Dad drew the line, because he could see neither the ball nor the basket. But Brandon was determined. He arranged a meeting of his parents, teacher, the principal, and coach, and pled his case for equality. He won. Brandon was the team's top guard and played every game.Brandon's voice had always been clear and distinct, frequently loud. Not surprisingly, he joined the regional speech contest and won. Then he performed in a school musical and enjoyed himself immensely. So he put all of his savings toward performing arts camp for the next summer, auditioned, and was in. That was just the beginning of his drama fever. Since then Brandon has performed in six musical productions including Oliver, Cinderella, and now Beauty and the Beast. His dream is to make acting his career.Brandon's path has rarely been a smooth one. From his numerous scrapes and scars he can outline his life's story. And perhaps the most difficult obstacle Brandon has had to face has not been his poor eyesight. It has been the limits placed on him by those of us who have sight. But Brandon meets all prejudice and obstacles head on with humor, a positive spirit, and a strong faith believing that God is with him. When one door is locked tight he finds another door that will open. Brandon continues to be a real inspiration to all of us.Brandon BiggsThis newsletter is sponsored by the SPECIAL KIDS NETWORKwww.SpecialKidsNetwork.orgBy Amber BobnarAs the holidays approach, some of us just dread the thought of writing out that long shopping list and racking up painful charges on our credit cards. But what if you could finish your holiday shopping weeks in advance, give meaningful gifts to all your loved ones, and help FRR make a difference all at the same time?In place of scented candles or 2008 calendars, consider giving tribute gifts to all your friends and family this year. Tribute giving, sometimes referred to as honor giving, is the donation of money to a charity in someone else's name. Instead of fighting your way through the malls this December, simply donate your holiday budget to FRR and do away with all the stress – and January returns, too!And what about what everyone is getting you this year? Why not turn this season into a sort of FRR Holiday Campaign? Get all of your friends and family in on the event by pledging to both give and receive as many tribute gifts to FRR as possible this year. You could even begin an annual tradition of giving and try to top your total donation amount each year.If organizing an entire holiday event sounds too daunting, you could always just throw a simple holiday party and ask that each guest donate a bit of holiday cheer to an FRR Holiday Donation Bowl set in the middle of the hors doeuvre table. This way there's less pressure to give, but you can still end up making a difference by the end of the evening.But you don't have to stop there. There are many ways to bring people together to help FRR, especially over the holiday season. Can you get your child's school to organize a giving event? Or maybe your local church? Remember, 'tis the season to spend time with your loved ones, help others in need, and give when you can. And if tribute giving can also help relieve your holiday stress, all the merrier! For more information about tribute giving or organizing a fundraising event, visit the FRR website at www.tfrr.org.This newsletter is sponsored by the SPECIAL KIDS NETWORKwww.SpecialKidsNetwork.orgSupport FRR this holiday seasonPROJECT 3000 and You!
By Heather Scherber, Project 3000Just over one year ago, Chicago Cubs’ Derrek Lee, received the news that many of you are all too familiar with: their child was visually impaired due to LCA.They met with Dr. Edwin Stone, director of the University of Iowa’s Carver Family Center for Macular Degeneration, partnered with Wyc Grousbeck (owner of the Boston Celtics, whose son has LCA) and formed Project 3000. Since that time, Project 3000 has been blessed with the support of the Cubs organization, the Foundation for Retinal Research, generous individuals, and numerous families affected by LCA.Today we are proud to say that together we ARE making a difference! The following are highlights from the past year. We’re Being Heard! There has been a tremendous increase in awareness of LCA. The combination of press conferences, news reports, pre-game and intra-game interviews, and numerous Project 3000 Days at Wrigley Field and many minor league baseball parks have reached millions of people with this message: “There is something you can do”. Website hits, emails and phone inquiries about genetic testing for LCA have increased ten-fold since Project 3000 began.Medical Support is Growing! The directors of every ophthalmology training program in the U.S. have been contacted and informed about Project 3000. Dr. Stone will present a talk about LCA to the opening session of the annual meeting of the American Academy of Ophthalmology in New Orleans this November.Testing is Faster! The molecular methods that underlie the genetic test for LCA have been extensively refined and improved so that the chance of finding the specific molecular cause for an individual patient with LCA is now nearly 70% (up from about 50% one year ago). Even though additional genes have been added to the assay, the full test can now be performed 43% faster than it could one year ago.We Can Test Every Sample! The infrastructure of the Carver Laboratory has been dramatically increased so that samples from all remaining LCA patients in the U.S. could be received in a single year if these individuals could be identified and were willing to submit samples.Funding is at an All Time High! More than $1M in philanthropic support for Project 3000 has been raised in the past year. A “no overhead” mechanism has been devised for handling these gifts through the University of Iowa Foundation. As a result, these funds are sufficient to provide state-of-the-art genetic testing for over 1000 families who lack insurance coverage or personal resources to pay for the testing themselves.More Samples are Coming in Than Ever Before! More than one sixth of the LCA patients in the US have already been tested for mutations in the known genes, and the results of this testing have been summarized and accepted for publication in a scientific journal. New samples from LCA patients are being received by the Carver Labs at 5 times the rate they were before Project 3000 began and in the past 12 months, LCA samples have been received from 22 different states.We’re Moving Forward! A large volunteer infrastructure has been built for contacting LCA patients on a state-by-state basis. In the first year, specific emphasis has been placed on developing this infrastructure in Iowa, Illinois, Massachusetts, California, New York, Florida, Texas, and Kentucky. These eight states represent more than 40% of the population in the U.S. In many states, the Lions Clubs have been engaged as partners. A full-time external relations director has been hired to oversee these efforts from Iowa City. We’re Getting the Word Out to 11 Million People!! On January 17 the hit show “ER” will feature an LCA awareness episode! Although the story line has not been completely developed, it will feature a child being tested and diagnosed with LCA. To close the episode, there will be an informational piece on Project 3000. *Air Date is Subject to ChangeIf you would like more information on Project 3000 or, to join our mailing list, please contact us in one of the following ways:Visit: www.project3000.org orwww.1sttouch.orgWrite: 1st Touch Foundation5921 Maleville AveCarmichael CA 95608Call: Heather Scherber, Development Associate(916) 212 -0312
SAVE THE DATE! Next FRR Family Conference will be in August 2008 in Cleveland!More information will follow. Please check www.TFRR.org!Ivan BobnarFrom: Walla Walla Union-Bulletin, WA, July 15, 2007By: Andy PorterofDIXIE - Brandon Biggs may be nearly blind, but that doesn't stop him from seeing himself as an actor.Among the cast for the summer musical ``Cinderella,'' Biggs sings and dances his way through several roles in the play. Although the audience can see him, only a few on the other side of the footlights may know he can't see them.Visually impaired since birth, the curly-haired 15-year-old has refused to consider his blindness a handicap, said his parents, Atom and Sonja Biggs.It hasn't dented his sense of humor either.``We do everything we can as parents to support him,'' Sonja said last week at the family's home in Dixie.``Except for driving,'' Brandon quipped from where he was sitting on a couch.``And when he wanted to make his own fireworks, we wouldn't let him,'' his mom added.Medically speaking, Brandon's condition is diagnosed as Lieber's congenital amaurosis. He can discern vague shapes and color, but not detail, although his peripheral vision is more acute than his frontal sight.But the condition has not stopped his son from pursuing interests that have run from raising lambs to earn tuition for acting camp to competing in multiple sports, Atom said.``He runs three miles a day and then does weight training,'' his father noted. Brandon also does his share of chores on the family's country home alongside his younger brother, Joshua.According to Atom and Sonja, the acting bug bit Brandon early.``Growing up, he's always been the one to be the storyteller,'' Sonja said.The urge to act led to roles in school plays in Dixie and Waitsburg and then, last August, a summer course with the Missoula Children's Theater performing arts camp in Missoula, Mont., followed by a role at Dayton Liberty Theater in the production of``Oliver.''Brandon will return to acting camp again this year and then will begin rehearsals for the part of the prince in Touchet Valley Arts Council's production of ``Beauty and the Beast.''In ``Cinderella,'' Brandon has to stay on his toes, given that his roles are listed as ``footman/ball attendant/assistant steward/guard.''Among challenges he has faced have been memorizing how and when to react to gestures by his fellow cast members to learning where props are placed so he doesn't collide with them.``Cinderella'' director Paul Wickline said that in working with Brandon, the safety issue was a concern ``but everything else was up to him.''``It's dangerous out there (on the stage).'' Wickline said. ``There's all kinds of sharp corners and potholes. So what we tried to do was have him in things we knew he could do successfully and safely'' during action on the stage.Wickline said another aid has been to have Brandon paired with other actors during scenes so he can physically relate to his surroundings and act accordingly.While the on-stage action is one thing, Brandon said, his fellow cast members ``all worry about when I'm walking around backstage,'' concerned that he may trip and fall over a wayward prop.``You should be carrying your cane when you're back there,'' Sonja said.``I've got a spear. It works the same,'' Brandon said with a smile.Brandon Biggs takes on several roles in the summer musical, `Cinderella’A Cinderella StorySummer musical ``Cinderella'' actor Brandon Keith Biggs, a sophomore this fall at Walla Walla High School, has several other roles under his belt and a strong interest in pursuing a career in theater. He is also nearly blind.our vision is clear(continued from page 1)In spite of his parents' worries and concerns, Brandon insisted upon growing up like any other little boy. He was throwing snowballs, hiking trails, and assembling his new baby brother's crib. When we informed Brandon that he would never be able to drive a car, he developed a determination to somehow obtain a car. At age 5 Brandon started raising baby hamsters and selling them to the pet store. With the money he raised from hamster sales and from watching over his new baby brother Brandon bought himself a kidsize electric jeep. He spent hours puttering around our spacious back yard, his little brother belted into the passenger seat.Atom tried unsuccessfully to teach Brandon, at age 6 how to stay up on a bicycle. But Brandon wasn't ready to give up. All winter long Brandon practiced in the basement of our house, and that spring he emerged outside riding like a champ! Brandon continued to grow up with a spirit of determination and tenacity. Joining 4H, he first showed hamsters, then chickens, lambs, and rabbits. Loving to receive awards Brandon quickly plastered his walls with ribbons, plaques, and trophies. He was competitive in track & field and cross country running. But when Brandon said he wanted to try out for 7th grade basketball Dad drew the line, because he could see neither the ball nor the basket. But Brandon was determined. He arranged a meeting of his parents, teacher, the principal, and coach, and pled his case for equality. He won. Brandon was the team's top guard and played every game.Brandon's voice had always been clear and distinct. Not surprisingly, he joined the regional speech contest and won. Then he performed in a school musical and enjoyed himself immensely. So after putting all his savings toward performing arts camp for the next summer, he auditioned, and was in. That was just the beginning of his drama fever. Since then Brandon has performed in six musical productions including Oliver, Cinderella, and now Beauty and the Beast. His dream is to make acting his career.Brandon's path has rarely been a smooth one. From his numerous scrapes and scars he can outline his life's story. And perhaps the most difficult obstacle Brandon has faced has not been his poor eyesight, but the limits placed on him by those of us who have sight. Brandon meets all prejudice and obstacles head on with humor, positive spirit, and believing that God is with him. When one door is locked tight he finds another door that will open. Brandon continues to be a real inspiration to all of us.the pediatric patient is unique and fundamentally different from the adult. For example, most institutions do not have the experience that CHOP has in obtaining assent of a child (and permission of the parents) for participating in a clinical trial. Methodology and instrumentation that has been widely used in the assessment and treatment of adults have not been validated in children, and in many cases, are irrelevant. Dr. Eric Pierce, a Sub-Investigator in the LCA-RPE65 clinical trial at CHOP, has established one of the first Center for Pediatric Hereditary Retinal Degenerations in the USA. He and Dr. Maguire also work closely with other physicians at CHOP who have vast clinical trial experience for diseases such as Retinopathy of Prematurity and amblyopia. In addition, Dr. Maguire has clinical trial experience for a number of other pediatric and adult eye conditions, including studies involving age-related macular degeneration, retinal holes, uveitis, and the ocular complications of AIDS. CHOP has a tradition of investing heavily in the development of new treatments which can save lives and improve the quality of life for children. Among the historical research breakthroughs that have made CHOP an international pioneer in pediatric medicine are the use of gamma globulin for prevention of hepatitis A and B, discovery of the association between infectious mononucleosis and Epstein-Barr virus infection, vaccines against measles, mumps, rubella, whooping cough and influenza, the development of a balloon catheter for use in cardiology, the invention of the isolate incubator for newborns, the first in-depth understanding of “shaken baby syndrome,” and the generation of methods for changing sickle-shaped red blood cells. The legacy of pediatric breakthroughs continues today, exemplified by the recent development and approval of the rotavirus vaccine. Recently, CHOP established the Center for Cellular and Molecular Therapeutics (CCMT), Dr. Katherine High, Director. The CCMT is a team of highly regarded scientists and physicians engaged in development of genetic therapies. The CCMT has been working closely with the scientific director of the trial, Dr. Jean Bennett, a professor of ophthalmology at University of Pennsylvania’s Scheie Eye Institute, and Dr. Jeannette Bennicelli, a senior scientist in the Bennett laboratory, to plan this trial. The CCMT includes a Clinical Grade Vector Core, which develops the pharmaceutical grade reagents that are used in clinical trials. The Director of that facility, Dr. Fraser Wright, has extensive industry experience in generating reagents used for clinical studies in Parkinson’s disease and hemophilia. Further, Jennifer McDonnell, Dr. Valder Arruda, and other members of the Center have extensive experience with regulatory and administrative issues related to clinical gene transfer, and issues of special importance in the pediatric research population. Finally, the Center is very familiar with the practical issues that are faced in carrying out clinical trials, including logistics of travel and accommodation of children and their parents. For the LCA-RPE65 study, CCMT has engaged a first rate clinical coordinator, Kathleen Marshall, who has over 25 years experience in diagnosis and treatment of ophthalmic disorders in children. Finally, CCMT has assisted in developing an additional outcome center for this trial in Naples, Italy, so that participants from Europe can be evaluated after injection closer to home. Clinical outcome centers in additional countries, including Brazil, are in the process of being established. The LCA-RPE65 clinical trial has also received substantial support from University of Pennsylvania’s Scheie Eye Institute and the Department of Ophthalmology and the F.M. Kirby Foundation. Several of the physicians and scientists, including Drs. Maguire, Pierce, and Bennett, have primary appointments in this Institute and their laboratories are in the F.M. Kirby Center for Molecular Ophthalmology at University of Pennsylvania.Children’s Hospital of Philadelphia enrolling LCA patients for clinical trialsBy Amber BobnarWe attended the Hawaii Association for Parents of the Visually Impaired's annual conference in 2006. HAPVI (along with the Hawaii Association for the Blind – HAB) had invited many state and federal representatives to attend the conference and explain to the members why so little was being done to help the blind, especially blind children, in Hawaii. Public transportation was a joke, the public schools were under funded and under staffed, and there was not a single TVI employed in the entire state to work with blind children aged zero to three. And nothing was being done to hire one!What was the response? Beside much evading, hollow promises, and empty apologies, we heard one phrase repeated over and over: "Blindness is a low incident disability."It may be a poor excuse, but nonetheless it is true that blindness is a low incident disability. 3% of the U.S. population is blind or visually impaired and only .4% of the general population is considered legally blind. If you look at the number of blind children in the U.S. (only .01% of the general population), you can begin to understand why many government officials just can't seem to find the time to staff or fund programs for visually impaired children.So what did we do? We tried our best to fight the system (and I like to think we made a few waves), then we moved.We now live in Watertown Massachusetts and the difference couldn't be greater. Watertown is home to the oldest School for the Blind in the country, Perkins. The great thing about living so close to Perkins is that the town is very accessible and blindness isn't a "low incident" anymore.Why is this important to us? On the surface, it means that signs around the school announce to motorists to slow down and be aware of white canes. It means that crosswalks talk to you (they say "please wait" after you press the button) and so do busses (by announcing every stop on a clear overhead speaker).But much, much deeper is the attitude of the community. Our son, Ivan, is no longer the only baby who is blind in town; in fact, white canes and seeing eye dogs are pretty common. People here aren't afraid of blindness like they often where in Hawaii. Most telling is the response we receive from people who have just learned that Ivan is blind. In Hawaii the attitude was dire, like we were suddenly at a funeral: "Oh, no. I'm so sorry. That's terrible." This always upset me because I knew that, even as an infant, Ivan was forming his identity and would begin to associate his blindness (and maybe even himself) with this grim reaction.But in Watertown it's been the exact opposite. When we meet someone new and mention Ivan's blindness, they light up: "Oh! Is he going to Perkins? That's wonderful! It's such a great school!" The people in Watertown are so proud of Perkins and it shows in their attitude. They smile, touch Ivan's hand, and begin the conversation on such a positive note. I know that this is just our experience, but living in such an open and understanding community has really helped us a lot. Moving so far away from home was a big decision (and don't worry, we do have lots of family in New England, too), but we wanted to do what was right for Ivan. I really believe community support will mean a world of difference for Ivan as he matures here at Perkins.(Oh, and the school really is great, too!)Moving to Perkins:
Why Community Support Means So Much To The BobnarsNote: Brooke Pernice is the daughter of PGA Tour golfer Tom Pernice Jr., and also has LCA. She recently put out her own CD of music. It is available at her website, www.BrookePernice.comI am Brooke Pernice, I am 12 years old and here's my story. I have always had a personal relationship with our Lord and Savior Jesus Christ. When I was seven years old, the good Lord spoke to me and said I would lead a worldwide ministry through music. I took this message seriously and started taking vocal lessons to work towards my future. Last September, the Lord sent some lyrics to my mother. My vocal coach and I reworked the lyrics slightly and the song "Standing on My Own " came to life. This song is a tribute to my sister Kristen. As the lyrics kept coming our way, my life was put to a song. I am blind and do see the world differently, as I like to say through song, I see the world, "From the Inside." The Lord spoke to me again in the fall and told me it was time to start doing concerts and public speaking. My debut CD tells my life through song. God Bless you all. Brooke PerniceBrooke Pernice releases music CD about LCA, blindnessAmber & Ivan Bobnar‘Special Kids Network’ golf outing raises $160,000 for childrenThe Special Kids Network, held its Annual Tennis and Golf event, August 6, 2007, at Twin Orchard Country Club in Long Grove. The 225 golfers, were not deterred by inclement course conditions from having an outstanding day. The golf outing was sponsored by Highland Park’s, Morris Silverman and Family, who also hosted the event at Twin Orchard. The evening before the event, Gibsons Restaurant at their Luxbar location hosted a dinner for Special Kids Network celebrity guests and sponsors. Joe Giardi, former Chicago Cub and 2006 Major League Baseball Manager of the Year, acted as the Golf-Outing Honorary Chairperson. The Women’s Tennis event was held in cooperation with the Midtown Athletic Club. The 35 women were treated to a fun-filled day with prizes handed out from Honorary Chairperson, Kathy Hart; from the Eric & Kathy Show - The Mix 101.9 FM. Billy Jaffe (Highland Park Native) and current Color Analyst for the New York Islanders on Fox Sports Network, New York acted as the Master of Ceremony. Among the other sports and media celebrities who played with various foursomes were, Trent Yawney, former Head Coach of the Chicago Black Hawks; Mark Giangreco of Channel 7 Sports; Eric Soderholm, former Chicago White Sox player; Jeremy Roenick, of the San Jose Sharks; Paul Popovich, former Chicago Cub player; Bob Murray, Senior Vice President of Hockey Operations for the Stanley Cup Champion Anaheim Ducks; Joe Corvo (Oak Park Native), and player for the 2007 Eastern Conference Champions, Ottawa Senators, and Emery Moorehead, from the Chicago Bears Super Bowl team. The event raised approximately $160,000.00, for the recreational programs of Keshet, which serves children and young adults with physical and developmental disabilities, as well as the Pediatric-Gastrointestinal Research Foundation at the University of Chicago Hospital, National Stuttering Association, Foundation For Retinal Research, and Glenkirk.The event was co-chaired by Garry Benjoya of Buffalo Grove; Trevor Brody of Chicago; Bonnie Brickman, Chad and Debbie Coe, and Scott Rudin of Deerfield; Steve Hara and Greg Solk of Highland Park; and Michael Rosen of Northbrook, and Steve Strumpf of Weston, Florida. The days festivities included, lunch and dinner, and a silent and live auction. Top premium items included, a trip to the Lexis Tournament of Champions at the Pebble Beach Golf Club. The Great Escape donated a spa, and a white gold diamond bracelet was donated by Shelle Jewelers of Northbrook. Guests also received a party favor from local Bannockburn Company, “Zizzle,” called “Lucky,” the Incredible Wonder Pup.Frank and Alisha Lieberman of Deerfield, and Bari and Marc Levin of Buffalo Grove, were inducted into the Special Kids Network Hall of Heroes for their commitment, hard work, and generosity to children’s charities. Next year’s event will be held Monday, August 4, 2008, at Twin Orchard Country Club in Long Grove. For information, visit www.specialkidsnetwork.org.The Special Kids Network is an official sponsor of the FRR newsletter. Visit their website at www.SpecialKidsNetwork.orgThe Foundation for Retinal Research sends out a big Thank You to all the families and organizations that have participated in recent events and making them so successful. Here is a list of 2007 fundraisers for the Foundation and the most recent accomplishments of the events. If you are interested in holding an event please look online at www.tfrr.org under fundraising events or contact me directly at amber@tfrr.org or 630-978-0547.Can you believe everything that is going on in our world these days? USA Today does a feature on Derrek Lee and LCA. There are three gene therapy trials proceeding that are getting the attention of Time and Newsweek. The television show ER will feature a character with LCA in a January episode. Over twenty families are doing events to raise money and awareness for LCA. The FRR Associate Board has formed and is meeting regularly to foster grass roots activities and that has all happened within the last six months. Imagine what tomorrow will bring. The message this quarter is simple. Everything all of us are doing is making a difference. We all live with the delicate balance of living in the present and imagining the future. It is hard for me to tell how you are dealing in the present but if it is anything like what is being done by all of you for the future you all better get some sunglasses because the future looks bright.   David BrintBetsy & David Brint Ronnie & Alan Schwartz
Aaron Brint Steven Brint, M.D. Claire & Richard Cortesi Sue & Paul Fishbein Arlene & Mark Frommer Sally & Tim Higginson Laurie Hochberg, M.D. Carolyn & Roger Horchow Audrey & Fred Horne Joyce & Dr. Sam KrainPam & Andy McGaan Andrew Schwartz Claudia & Steven Schwartz Susie & David Sherman Heidi & Gary Tyson Gerald J.Chader, Ph.D Irene Maumenee, M.D. Steven U.Brint, M.D. Constance Cepko, Ph.D. Eugene de Juan, M.D. Mark Humayun, M.D. Weng Tao, M.D., Ph.D. Josseline Kaplan, M.D. Stephan Daiger, Ph.D. Jean Bennett, M.D. Edwin Stone, M.D. Ph.D. FRR Board of DirectorsFRR Scientific Advisory BoardThank You to all families raising money for FRR!Dave BushlandChrissy & Mike CornellKaren IrvineLaura & Mark JohansenRachel MillerKimberly MoncmanKelly PlatteChris RockeyLee St. ArnaudFRR Associate Board our vision is clearPICTURESFREE MATTER FOR THE BLIND
The Foundation for Retinal Research666 Dundee Road, Suite 1104Northbrook, IL 60062This newsletter is sponsored by the SPECIAL KIDS NETWORKEli BomersGraham WalkerIsabelle NuttMary Rose BushlandWilliam RankineMelody & Elizabeth KorenGot a photo of your little champ or princess?Email Sally@TFRR.org and we’ll run it in a future issue!The Mission of the Foundation for Retinal Research is finding treatments and cures for Retinal Degenerative Diseases and supporting affected families.

ER will raise awareness on LCA

2007-09-25T22:00:00.000+02:00

Maybe I’m a little late with this, I’m sorry it has taken me a while, but the news is nonetheless terrific and needs to be posted.
On January 17th 2008, the TV series “ER” will air an episode featuring the story of a little child with Leber’s Congenital Amaurosis! The goal is to raise LCA awareness. We need to thank Chicago Cubs’ Derrek Lee for this. In return for this incredible opportunity, he’s making a cameo appearance in another ER episode which will air on October 18th.
“ER” writers have had extensive conversations with LCA researchers, as well as Derrek’ lee and the people at his 1st Touch Foundation, asking for insight and suggestions. This is wonderful and will ensure that we make the most out of this unexpected, powerful opportunity.

The air date and the story are subject to change; I'll post more if I learn anything useful.

Fran

Big step forward in gene therapy technique for photoreceptors

2007-08-24T15:48:00.000+02:00

We all know of the huge success obtained with gene therapy for RPE65 Leber’s Congenital Amaurosis, at least in dogs, which is paving the way for similar experiments with different LCA genes. There is however an important difference between RPE65 and most other genes that cause LCA. While the former is expressed in the retinal epithelium (RP), other LCA genes are expressed primarily in photoreceptors. Since photoreceptors are much more difficult to access than the RP, the methods used for the RPE65 trials may not work for photoreceptor-specific gene replacement. But this obstacle is being overcome.
Researchers led by Dr. Alberto Auricchio, of the Telethon Institute for Genetics and Medicine (TIGEM), based in Naples, Italy, has identified viral vectors that can access rods and cones of mice more efficiently than those previously studied. These are extremely encouraging and important findings. Hopefully these techniques will work just as well on humans!

The paper has just been published in the August issue of the Journal of Virology. It is highly technical, but obviously worth reading.

I feel like an astronaut

2007-07-06T19:34:00.000+02:00

These days I really feel like someone who might become an astronaut, at least, someone who is working hard toward that goal. OK I know I was intending this blog to be strictly scientific, but given the recent medical advances, can you allow a personal touch?

One of my childhood dream was to become an astronaut. Unlike many childhood dreams, this stuck with me. Of course I always knew that I would not become one when I grew up.
I always considered my blindness to be the real big obstacle in my way. I know, we tend to focus our attention on those things that make us feel weakest...In blaming my lack of sight so much I was overlooking, for instance, that in order to be an astronaut you usually need to be a scientist of some sort, and...I can hardly go beyond algebra without my brain going on fire! I was also overlooking the fact that astronauts have to be in perfect shape; though I am very fit, well I admit it, I can get kind of sick when I go on my swing sometimes...LOL. And last but not least, well, not all scientifically-oriented, highly motivated, healthy athletes end up in space!
Anyway, apart from these wise considerations, my blindness still did have a role in spoiling some of my life’s plans, and not just the “plan” of going on a space ship.
Now though, blindness may be bringing something exciting my way, and I’m realizing it only now that retinal research has reached the human trial stage.

What if it really happens? What if a trial for my type of LCA gets planned, approved and patients are recruited. And what if I make a good candidate for such a trial?? It now seems feasible. What will happen next?

Learning how to see, no matter how little I will be able to see, will be like embarking on a thrilling, defying exploration of a new, unknown place. I’ve never seen anything beyond light and shadows. Even if I only get to see some shapes, how will it feel? Will there be sensory overload for a while? How long will it take before I begin to figure out what my eyes are sending to my brain? How will it feel?? The fact is, nobody can answer these questions right now, because it has never been done before.

Learning how to see. Stepping out into the unknown. Experiencing new sensations. Taking a daring step toward something of which nobody knows the outcome. Doesn’t it all sound a bit like what the astronauts do?

Astronauts get to experience 0G. They get to experience incredible accelerations, then float in their space ship where up and down loses most of its meaning, as they watch the earth spin below them, in a sky full of stars. All brand new, unimaginable sensation. Well, won’t seeing a shape feel almost as strange and thrilling to me as riding a space ship might feel to them?
Astronauts bring crucial knowledge to mankind. I won’t go so far to claim that my newly acquired sight will be half as useful to the world, however it certainly will be very interesting to researchers, physicians, and psychologists (hopefully not psychiatrists!) to witness how someone blind from birth can adjust to the new sensory input.
Astronauts must have a powerful spirit of adventure. Space is the new frontier, Their adventure is exciting, fulfilling, scary. If I’m given the chance, I too will undertake a big adventure. Like all adventures, it may be dangerous, but I’m eager to take the risk. If the heroes in the Challenger and Columbia missions were prepared to sacrifice their lives, I must be at least prepared to face unplanned consequences for my health or whatever happens. Like all adventures it may fail...I must be prepared for it. Many great candidate astronauts never actually made it to lift off.

I’ve always felt I was born for great things. But as I realized that I had no special talents and was just an ordinary girl, I simply began to ignore that thought. Now there may be a defying enterprise planned for me after all. And my blindness, which I always saw as my bitter enemy, may be the one thing that will allow me to come closer to space flight...

OK I know, it’s not the same! Being an astronaut is much better than being an eye patient... OK, I would still so much prefer to be born sighted and spare myself all the trouble. But unless I was born with a more developed scientific brain :-) along with good sight, I still would not become an astronaut...Therefore, as is wise, I try to ignore the bad and only keep the good.

Hopefully I’ll be “in space” in a couple of years....! And then, at least, I might be able to watch the stars. Being an astronomer is another of my childhood dreams that stuck, but....OK, now back to strictly scientific matters...

Thanks for reading me blabber.

Fran – Italy, 36, LCA CEP290 gene

The Foundation for Retinal Research Newsletter, June 2007

2007-06-28T19:30:00.000+02:00

FAMILY TO FAMILY
May 5 was a dream come true.
When we walked into Wrigley Field that day and saw people wearing the “Play for LCA” shirts, I began to cry. For 10 years now, we’ve been trying to make people aware of, and educate people about, LCA.
On May 5, for the first time, acceptance and awareness were everywhere. LCA moved up to the ‘majors’ in terms of being talked about. It is not just an issue now for the few - it is an issue in the hearts of everyone who loves the Cubs and Derrek Lee, whose daughter has LCA.
Project 3000’s mission is not only doable, but it is happening. The timing is perfect. Human trials for gene therapy are beginning and making international news. All the efforts of The Carver Lab, First Touch, FFB and FRR are making a difference.
Dr. Ed Stone did a wonderful job on both TV and Radio. They were smart enough not to allow us to talk (I think I would have cried my eyes out).
Alan got to sit in the radio booth and he was in heaven! Alan has fallen in love with baseball this year - he listens to every game on the radio - so to be there as the announcers were talking was surreal for him. They were all so nice to him and spent time talking to him during commercials.
We are grateful that we were able to participate. I only wish all the FRR families could have been there. Not only did the Cubs win - but we all did!
To read more about ‘Play For LCA” day at Wrigley Field, please turn to pages 4-5.

Drs. start LCA gene therapy
LONDON (Reuters) - A team of British doctors in May carried out the world’s first eye operations using gene therapy to try to cure a serious sight disorder.
The group from Moorfields Eye Hospital and University College London (UCL) has operated on a small number of young adults with Leber’s congenital amaurosis, a type of inherited childhood blindness caused by a single abnormal gene.
The condition prevents the retina from detecting light properly, resulting in progressive deterioration and severely impaired eyesight. There is no effective treatment.
The new experimental procedure involves inserting normal copies of the faulty RPE65 gene into cells of the retina -- the light-sensitive layer of cells at the back of the eye -- using a harmless virus or vector.
The British doctors are working alongside Seattle, Washington-based biotech firm Targeted Genetics Corp., which made the vector being used in the Phase I/II trial.
It will be several months before the success of the procedure can be properly assessed but medics said there had been no complications so far.
The move into human testing follows 15 years of laboratory and animal experimentation, including tests on dogs whose vision was restored to the extent they could navigate a maze with ease.
“Testing it for the first time in patients is very important and exciting and represents a huge step towards establishing gene therapy for the treatment of many different eye conditions,” Robin Ali, professor of human molecular genetics at UCL, said in a statement.
The clinical trial was given 1 million pounds ($2 million) of funding by Britain’s Department of Health, which said the pioneering research underlined the country’s leading position in gene therapy in Europe.
The idea of using gene therapy to fix diseases caused by genetic faults has long appealed to scientists, although getting the idea to work in practice has proved tricky.
Some gene therapy approaches have helped patients. But one 18-year-old volunteer died in a gene therapy experiment in 1999 and two French boys cured of a rare immune disease later developed leukemia.
Over 70 percent of gene therapy trials to date have been for cancer, where the process is complicated by the need to reach multiple sites in the body.
The eye, by contrast, is relatively straightforward, said Andrew George of London’s Imperial College.
“The eye is good for gene therapy because it is a simple organ and it is easy to see what is going on. There is hope that once gene therapy is developed in the eye, scientists could move on to more complex organs,” he said.

Here comes trouble - Hurray!
Last week, my charming and perfect son got suspended from school. Yep – you read it right – David and I found ourselves sitting in the principal’s office with Alan, his fourth grade teacher, his Braille teacher and the school social worker. It seems that our adorable little child has been experimenting with naughty words. Now Alan is smart enough to know that he can’t get away with using bad language at home or at school, but, he is a ten year old boy who is intrigued by swear words (yes, he has an older sister and brother) and the thought of four-letter words makes him giggle.
Alan used unacceptable language in a way that he thought no one would ever find out, and let me tell you, it was pretty clever. Alan uses a Braille Note at school to do most of his homework assignments. Other than Alan’s Braille teacher, Alan is the only one who really knows how to use it. Knowing that his Braille teacher never looked through Alan’s files in the Braille Note, Alan began to name all of his homework files very naughty names. He figured no one would know because when he prints out his homework, the file name does not show up. Unfortunately for my little juvenile delinquent, his Braille teacher happened to find the files while looking for something else. Oops.
This little stunt resulted in a one-day suspension from school and the loss of unsupervised use of his Braille Note for the rest of the year. Guess what? I am thrilled this happened. Sure, I feigned shock and disappointment, but in reality, I liked it that Alan was getting into trouble like most ten-year-old boys. He also learned a life-lesson about appropriate behavior and it opened the door for us to discuss other social dos and don’ts and the consequences for his actions.
As parents of children with visual impairments, we are often overly concerned that our kids have “perfect” behavior so we structure their lives until they become little robots unable to think for themselves. But how will they learn to live in the real world and react to everyday situations if they are not getting into a little trouble when they’re young? So take a moment to savor the rough days. Secretly try to enjoy their independent acts of mischief. And make those socially inappropriate actions into learning opportunities for life.
Have any idea or tip that can help other parents? Please drop me a line at Betsy@tfrr.org and we’ll try to get it in our next edition.

Is this the year you make a difference?
By Amber Purpura
amber@tfrr.org
I am going to let everyone in on a little secret. The first time I decided to participate in WALK With a VISION walk-a-thon I was scared to death. I thought I was going to be the only person to show up at my walk. I was so surprised when I ended up raising over $15,000 and having over 200 people come. I want you to ask yourself to think about if you are ready to make a difference. We need to come together as a whole and raise funds for the foundation that is committed to funding medical research, public awareness, and family education.
I know that all of you have had a friend, family member, or neighbor ask you what they can do to help. Yes, I know what you are thinking, “I don’t know how to set up a fundraiser, I have never done anything like that, how much could I possibly raise?”
We have new software that will allow each family to customize your personal web page and invite family and friends to visit it and support your efforts with donations. And my job is to help you!
Here is a list of families that have committed to joining us in fulfilling our mission. Thank you for all your hard work and stepping up to make a change. If your name is not on the list and you want to hold a Walk – please email amber@tfrr.org or call me at 630-978-0547. Together we will see a difference!
Amber Purpura is Communications Director of FRR. You can contact her at 1-630-978-0547 to receive information on fundraising activities for FRR.

2007 FRR Fundraisers
Adams Yearly Membership Drive - State College, PA
Amodeo Yearly Membership Drive - Dunellen, NJ
Best Walk-a-thon - Portland, ME
Bruggemann Dinner Event - West Babylon, NY
Cornell 5th Annual LCA Triathlon - Lake Geneva, WI
Drury Golf Outing - Glastonbury, CT
Frommer Purse Party - Highland Park, IL
Gruszka Golf Outing - Grand Island, NY
Johansen 3rd Annual Walk-a-thon - Tualatin, OR
Kocheran Social Party - South River, NJ
Koren Walk-a-thon - Colorado Springs, CO
Miller Walk-a-thon - Medina, OH
Moncman Golf Outing - Center Valley, PA
Moncman Walk-a-thon - Center Valley, PA
Moncman Lift-a-thon - Center Valley, PA
Nutt Beef and Beer Social - Turnersville, NJ
Nutt “Old Cell Phone” Donations - Turnersville, NJ
Pennington “Strut Your Mutt” Dog Walk - Cincinnati, OH
Purpura Walk-a-thon - Naperville, IL
Rankine Walk-a-thon - Warner Robins, GA
Rockey Walk-a-thon - West Milford, NJ
St. Arnaud Various Local Events - LaGrange, IL
La Grange Highland Women’s Club, LaGrange Highland, IL
Apex Oil Charitable Foundation - Clayton, MO
Seed Walk-a-thon - Alberta, Canada
Special Kids Network Tennis & Golf Outing - Deerfield, IL
Super Bowl Fundraiser - Chicago, IL
Swenson Fundraiser - St. Paul, MN
Walker Fundraiser - Heber City, UT
Arcilia/Villigran Walk-a-thon - Scotch Plains, NJ

GRANDMOTHERLY COMMENTS: By Ronnie Schwartz
Editor’s note: Sharing grandparenting experiences can be enlightening and helpful as we all continue to find ways to bond with our children and grandchildren who are blind. We invite you to participate in this space in forthcoming newsletters by contacting Sally Lewinksi at sally@tfrr.org
My husband Alan and I were fortunate to participate in a meeting with 25 fellow- grandparents attending the Cleveland FRR conference in July, 2006, where we shared many common feelings and experiences. We realized that for most of us, the reaction to the news of a grandchild’s blindness was initially shock, disbelief and often denial, coupled with a natural concern for our children’s adjustment to this major turn of events enveloping their marriage, impacting other children in the family, and forcing them to forge a new path in child-rearing that was unexpected, unbargained for and intimidating.
I thought it might be helpful to recount some of the many positive experiences my husband and I have enjoyed with our blind and handsome grandson Alan Brint, who is now ten years old.
For those of you who are new to the experience of grandparenting a baby who is blind, I encourage you to attend and watch some of his/her therapy sessions. It became fascinating ten years ago to watch Alan, go from being frightened, crying and uncooperative to cooing with pleasure as he learned to master the feats of clapping his hands, touching his toes, rolling over, and later doing a somersault. I remember him being fascinated with pulling big plastic alphabet letters out of a bag, feeling them, identifying them, and then throwing them across the room (which gave him even more pleasure when he learned that was a big no-no). We were not just fascinated but also took great pride in each accomplishment that in a sighted child we would have taken for granted.
Alan is now in the fourth grade of his neighborhood school, and continues to delight and amaze us with his development, albeit with some extra coaching along the way. His brother Zack walked him to school until Zack moved on to middle school; now Alan hooks up with four other kids at the corner and they all walk the five blocks together as friends.
Spending time alone with Alan is special and made easier now that his older sister Karly has taught Alan to enjoy many card games. With Braille cards we can engage him in a game of cribbage, Uno or war. We enjoy listening to him play the piano. Sometimes these activities often require some negotiating, as Alan likes to control the situation by setting down specific ground rules such as “I don’t practice piano on Sunday”, or “I’ll only play one game, but not now.” We come back with some ground rules of our own. For instance, when playing monopoly (in Braille form) I insist on rolling the dice when it’s my turn, and on making my own moves (he would prefer to take both of our turns). Another game we all enjoy is to take turns scrambling letters in a word for the other to guess. (He does it in his head, I do it on paper.) Or, using Scrabble letters, we used to take turns picking seven letters and making a word that would give the most points.
Exploring the mall is usually a successful outing. We drive to the mall of Alan’s choice and while heading for the food court we figure out what each store sells (shoes, perfume, books) by feeling or smelling, and ride the escalator several times. One time Alan’s brother Zack, a very responsible 13-year-old, rode (3 miles) with Alan to the mall on their tandem bicycle (with parental permission), with Alan doing his share of the pedaling. I was glad I found this out after the fact, but on second thought I realized how liberating this must have been for Alan.
My husband and I appreciate the importance of minimizing Alan’s blindness and maximizing his great potential by doing normal activities in and out of the house, but we are still working on his being considerate of the needs of others both in play and in ordinary activities. His grandfather encourages Alan to explore his feelings, which will help him develop social skills and not just live in his own world of facts.
Ronnie and Alan Schwartz are the parents of Betsy Brint, and one of the main reasons that the Foundation for Retinal Research exists today to help in LCA research and activities for parents and their children.

Patrick St. Arnaud debuts at Wrigley Field!
By Lori St. Arnaud
On May 5 we decided to go to Wrigley Field to lend some support to the LCA booth outside Wrigley Field. We had Mirielle while Patrick stayed at home with his Great Aunt Kathy & Uncle John.
Right when we got there the people manning the booth literally had everything all packed up in boxes and walking a way. We stopped them and said we wanted to buy a few bracelets and that our two children have LCA. They were very nice and said they would see if they could get us into the stadium to see the booth inside.
Next thing you know we were inside Wrigley at the booth. We met several volunteers from Sacramento who know Derrek Lee and do work for his foundation.
Everyone was very kind and compassionate about the cause.
We were there for about five minutes when I looked over at this 7-foot banner that says ‘Play for LCA’ and lo and behold their was Patrick’s picture!
We were surprised and excited. All the volunteers were, too. It was great to point him out, as well as Nicki, Alan and Fran from Italy. It was a great moment for us.

Lee and Cub teammates spread word about LCA
CHICAGO -- Michael Barrett and Ryan Dempster have joined Cubs teammate Derrek Lee in the fight against Lebers Congenital Amaurosis, a rare genetic eye disease, and on May 5, fans joined in the battle.
Lee’s 1st Touch Foundation, along with Chicago Cubs Charities, challenged fans to pledge money for every home run Barrett hits or every save Dempster picks up, or by simply making a contribution in the fight to cure LCA. Lee’s 4-year-old daughter Jada was diagnosed with the disease last year and is partially blind in one eye.
Fans could buy red “Believe the Unseen” bracelets to support Project 3000, a program launched by Lee and Boston Celtics CEO and co-owner Wyc Grousbeck to find a cure for LCA. The group is trying to locate the 3,000 people believed to suffer from the disease and get them tested.
“We’re just trying to get the word out and the awareness,” Lee said. “Anything we can do is good.”
Entering Saturday night’s action, Lee was leading the National League in hitting, has reached base safely in all 28 games this season and has a 13-game hitting streak. His efforts in the fight against LCA are making an even bigger impact.
Char Schwabero, who came to Saturday’s game from Naperville, Ill., heard about Lee’s daughter last year, and said she was more than happy to support the cause.
“Anytime they can get more money for research and help find a cure so [Jada] doesn’t go blind is great,” Schwabero said. “I know it’s a good cause.”
Two tables were set up at Wrigley Field on Saturday -- one at the corner of Addison and Sheffield Streets, and the other inside the main entrance -- so fans could receive information about LCA and donate to Project 3000.
“This is the first time LCA has ever been exposed like this,” said Heather Scherber, development associate for the 1st Touch Foundation. “It’s never been put in front of an audience this big. It’s the first time that it’s ever getting national exposure, and so it is an absolutely groundbreaking [experience].”
Project 3000’s goals are to identify everyone with LCA, offer affordable genetic testing, provide information about LCA and other rare eye diseases, and raise funds for LCA research. Lee and Grousbeck, who also has a child that suffers from LCA, teamed up with Dr. Edwin Stone and the University of Iowa to work toward an eventual cure.
Supporting Lee and Project 3000 was an easy decision for Margaret Davison of Kankakee, Ill.
“If my daughter were ill, I’d want some help,” Davison said.
Before Lee and his teammates took the field May 5, Alan Brint, a 10-year-old from Highland Park, Ill., who has LCA, was honored with his family on the field.
“What Derrek Lee has done, and Dr. Stone, too, is bring [LCA] to the forefront and make it something that the nation is now aware of,” said Alan’s mom, Betsy Brint.

Clara Johansens’ parents raise $15,000 for FRR, LCA
By Mark and Laura Johansen
The Johansen family put together their 3rd Annual “Walking with a Vision” walk-a-thon on May 20 in Tualatin, Oregon.
Three years ago we talked with Amber Purpura about her efforts to fundraise by putting on her own “Walk-a-thon” and we thought what a great way to get our family and friends together and to raise money and awareness for our daughter Clara’s condition.
The activism gave us a strong sense of involvement toward finding a cure for Clara’s Leber’s Congenital Amaurosis. It also helped us show David and Betsy just a small token of our huge appreciation of their efforts in providing the families affected by Lebers a place to feel comfort, strength, and knowledge about this condition.
We could not have been more touched by the response we got from friends and family our first year.
They all came together to raise over $15,000 and encouraged us to continue putting this event on year after year. We were equally successful our second year. We have included a silent auction and after-walk reception with refreshments, music, face-painting and Clara’s Vision Specialist is planning to teach kids how to type their names on the Perkins Brailler again this year.
To find out more information check our own page on the website under the “Walk with a Vision” tab, then click on “Portland” for “Choose your city”. You can see pictures of Clara and our family and friends at previous walks, and make a donation in her honor. Thanks for your continued support.

Start collecting old phones, and help raise funds for LCA research through FRR!
By Sue Nutt
Do you want to help raise money for The Foundation for Retinal Research and help the environment without costing you anything?
That’s right, it will cost you nothing! Start an “Old Cell Phone” collection program in your area! We have the wonderful opportunity to collect used, unwanted, old, even non-functioning cell phones and get money for them through a company called Eco-Cell.
You don’t need the manual, the box or the charger. You don’t need to clear out your contact information. It can even be one of those really big, old phones that seem so funny compared to the new small ones we all walk around with now. We get money for all of them, up to $15 per phone!
Your phone will be recycled in accordance with EPA regulations or refurbished & sold. Your donation may be tax deductible. 100% of the proceeds will benefit The Foundation for Retinal Research!
Some suggestions for starting a collection in your area:
• You could start a collection box at your job, your child’s school, your local church, gym or any other group or business that will allow you to do so!
• You could have a contest with family and friends to see who can collect the most phones in a specific time frame. You could give the winner a little prize or a certificate for their efforts.
• Go to your local cell phone stores and ask them what they do with their old phones. Some of the independent stores may just be throwing them away. You could help the environment and the foundation all at once!
• Another great place to talk to is a local real estate office. I am personally a REALTOR and I know myself and my co-workers typically go through at least 3 phones per year. The local office may be able to start a collection box for you.
So many people have old cell phones lying around that they don’t know what to do with it’s amazing! Just ask and you’ll see! When you have some collected, you can e-mail or call me and I’ll send you a pre-paid shipping label and all you’ll need to do is box them up and send them on their way! If you have questions you can e-mail me or call me.
SusanSchulerNutt@comcast.net/856-256-9321

Triathletes gear up for 5th annual Cornell event
By Chrissy Cornell
Although we’re still brushing off the cobwebs from a lengthy Midwestern winter hibernation, make no mistake about it, the excitement is building.
The 5th Annual LCA Triathlon Fundraiser is right around the corner. On June 24, 2007, our family will participate in the Bigfoot Triathlon in Lake Geneva, WI, as part of an effort to generate fundraising dollars for LCA research and awareness.
From brainstorming session to inception, this event has truly helped our family connect with each other and many others touched by LCA.
We’re so ready to swim, ride and run our way to THE finish line! for more information visit us on the web at www.tfrr.org

FRR BOARD UPDATE • David Brint
At this point, with all the talk of clinical trials , genes, stem cells and Lancelot everyone is wondering what is or can be done for each form of LCA. With the help of Dr. Jerry Chader, below is a summary of the current advances in various areas of the science. Each treatment is most likely predicated on whether an individual has living photoreceptors nuclei. For every form of LCA this differs by the individual. Fortunately, there are ways to determine cell existence through OCT and other adaptive optics techniques. Talk to your doctors for direction.
Remember that five years ago this article would consist of very preliminary retinal chip technology only. The promise of these and other treatments give us a great cause for hope.
Gene Replacement Therapy is the replacement of a defective, mutated gene with a normal copy of that gene. For example, if the RPE65 gene is mutated in RPE cells in some LCA patients, Gene Therapy techniques can be used to supply a normal copy of the gene that will make a normal, functional RPE65 protein. Studies in this regard on LCA animal models have been very successful. A Clinical trial with two LCA patients is now underway in London England under the auspices of Dr. Robin Ali. Two similar clinical Trials are set to start in the USA at the University of Pennsylvania in the near future. This form of treatment will be applicable to all types of LCA if the gene mutation is known and if viable photoreceptor cells remain.
Pharmaceutical therapy is the use of an agent (natural or synthetic) that will slow down the course of photoreceptor degeneration. Many such agents have been uncovered, some like the agent CNTF have been found to be effective in animal models of RP. A Clinical Trial using CNTF is in progress (phase 2) sponsored by the company Neurotech. So far, results have been good. This form of treatment is applicable to all forms of LCA (and RP) but the presence of viable photoreceptor cells is essential.
Nutritional Therapy: Vitamin A therapy is yet theoretically useful to LCA patients since LCA is a form of RP. Patients should consult their Ophthalmologist before starting a vitamin A regimen. Antioxidant supplements have recently been shown to slow photoreceptor degeneration in a number of animal models of RP. Both safety and efficacy appear to be good. A Clinical trial is being planned in Spain to test a specific formulation (called RetinaComplex) for safety and efficacy in the human. Although the testing will be on RP patients, the treatment should be applicable to all LCA patients with viable photoreceptor cells. RetinaComplex is available for purchase over the internet since the ingredients are classified as “nutrients by the USFDA and are generally deemed safe for use. Patients should consult their Ophthalmologist though before use. Remember always that the heart health and eye health go hand in hand.
Stem Cell Transplantation: This is replacement therapy for those who have lost their photoreceptors. Stem cells are primitive, undifferentiated cells that have the capacity to develop (differentiate) into any cell of the body. Each of us developed as an embryo from a few such cells. Theoretically, if cells such as photoreceptor cells degenerate and need to be replaced, stem cells can be transplanted into the appropriate area in the retina and could, with proper signals, develop into mature, functioning photoreceptor cells. Importantly, stem cells have even been found in to periphery of the adult mammalian retina, giving hope that these could be harvested, multiply and be used to replace the dead photoreceptors. In this way, the problem of the use of fetal cells would be overcome. Recent work in this area of research has been encouraging. For example, the use of early progenitor cells of rod photoreceptor cells has been quite successful in transplantation studies in not only normal animals but in animals with retinal degeneration. Photoreceptor replacement in this way, however, needs more work as to the ages of the progenitor cells that are to be transplanted as there appears to be a narrow “window of opportunity” for their use. Stem cells could afford the best possible chance for sight restoration in what otherwise might be considered terminal cases of LCA, in just the last two years.
Electronic Prosthetic Devices: When all or most photoreceptor cells are dead, they can be theoretically replaced by an electronic device that brings a visual image to the remaining cells of the retina. Essentially in this technique, a small video camera placed behind the patient’s glasses will send a visual signal to a device with multiple electrodes that is implanted on the retina. This “chip” will electronically signal the remaining retinal cells which pass the signal down the optic nerve for final processing as a visual image in the brain. Multiple clinical testing has been done on different versions of the prosthetic device in research centers around the world. In Germany, for example, acute human clinical testing has begun. In the USA, an FDA-approved Clinical Trial sponsored by the company Second Sight is just about to begin. Patients in the Second Sight trial will all be RP patients but the results should be applicable to all LCA patient with advanced disease.

A Group of ‘True Visionaries’
By Abby Imrem
Walter Payton College Prep High School in Chicago, Illinois is a magnet school, drawing the best and brightest of the inner-city students to its classrooms. Every Thursday morning of first semester, 20 of these talented students met in room 118 for a special seminar course entitled “Visionaries.” Half of the students are visually impaired or blind, and the other half are sighted. While many of their classmates were studying swing dance, relaxing in yoga class or watching Latin American films, these exceptional young people chose to spend their time together, teaching each other about what life is like in their world.
“It was an opportunity to make new friends who see the world in a different way,” said Jasmine Armand, a 14-year-old freshman at Payton.
The course is a collaboration between French Teacher Abby Imrem and Teacher of the Visually Impaired Doug Anzlovar. Imrem thinks the course fills a need that has long gone ignored at Payton and in the world. “I’ve seen sighted students jumping over the canes of visually-impaired students to get around them in the hallways, and noticed that they rarely make conversations with each other in class or at lunch. I thought getting the kids together in one room would give them the opportunity to socialize and just be together, and, with some luck, begin to learn about each other.”
Some of the activities the students did together included brushing their teeth while blind-folded, playing beep baseball, and a community service project in which they worked together to Braille menus of their favorite local restaurants. One morning, Payton’s halls were dotted with visually-impaired kids guiding blindfolded sighted students around staircases and ping-pong tables. “This activity brought the phrase ‘the blind leading the blind’ to a whole new level,” said Imrem.
“I think that people who took the seminar learned a lot about what it’s like to be blind, and I hope that they will share it with someone else and they will show someone else and so on,” said Chaquita Vinson.
Classmate Lily Diego said, “It’s definitely easier and less awkward to speak about my disability now. I feel more prepared as far as letting people know about my visual impairment and my needs in the future.”
Imrem and Anzlovar plan to continue the seminar for many years, with hope that as many young people and adults as possible can become true “Visionaries.”

Rebecca DeGeorge is offering a new class called “Braille-By-Phone” a uniquely formatted distance-learning class for relatives, teachers and friends of blind children and adult Braille readers.
Rebecca has taught Braille to adults at the Lighthouse for the Blind in San Francisco and for the Earle Baum Center of the Blind in Santa Rosa California. She is also a life-long user of Braille.
DeGeorge is the Founder & CEO of Write Spirit Coaching and her business specializes in coaching people undergoing life and career transitions. Visit www.write-spirit.com for more information on the class.

--end--

CEP290 patients retain healthy retinas and visual brain!!!

2007-06-09T00:09:00.000+02:00

Hum Mutat. 2007 Jun 6; [Epub ahead of print]

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis.

Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A.

Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania.

Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA). An in-frame deletion in Cep290 shows rapid degeneration in the rod-rich mouse retina. To explore the mechanisms of the human retinal disease, we studied CEP290-LCA in patients of different ages (7-48 years) and compared results to Cep290-mutant mice. Unexpectedly, blind CEP290-mutant human retinas retained photoreceptor and inner laminar architecture in the cone-rich central retina, independent of severity of visual loss. Surrounding the cone-rich island was photoreceptor loss and distorted retina, suggesting neural-glial remodeling. The mutant mouse retina at 4-6 weeks of age showed similar features of retinal remodeling, with altered neural and synaptic laminae and Muller glial activation. The visual brain pathways in CEP290-LCA were anatomically intact. Our findings of preserved foveal cones and visual brain anatomy in LCA with CEP290 mutations, despite severe blindness and rapid rod cell death, suggest an opportunity for visual restoration of central vision in this common form of inherited blindness.