Treatment much closer for CEP290 and IQCB1 LCA!

Patients affected by Leber's Congenital Amaurosis caused by either CEP290 or IQCB1, which are both ciliopathies, retain intact, though malfunctioning cones regardless of the degree of vision loss, even in adulthood! This had been already shown for CEP290 and has now been confirmed also for IQCB1.
An animal model sufficiently similar to human disease is essential for preclinical testing of any therapy before it is tried on man. Naturally occurring animal models with CEP290 mutations exist, namely the RD16 mouse and the Abyssinian cat. Both are good models but their phenotypes are different from those of human patients. Now a new animal model has been created which closely mimics the human phenotype! It is called the

rd16;Nrl mouse, generated by crossing RD16 mice with Nrl ^{mice. This double-mutant mouse shows substantially retained cone photoreceptors, with}

^{disproportionate cone function loss, like the human disease.}

A new study by Dr. Arthur Cideciyan and colleagues, just published online in Human Molecular Genetics, highlights the astounding survival of cones in the retinas of patients with these 2 forms of LCA across a wide age spectrum, and presents the characteristics of this new animal model which will greatly contribute to expedite preclinical research towards gene therapy trials in man!

You can read the paper's abstract at

http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=21068128