New gene official: it's recessive

The new LCA gene is official! The researcher who has discovered it has given me permission to talk about it freely now, so I can mention his name. It is Dr. Robert Koenekoop from Montreal Children's Hospital in Canada. The name and function of the gene are going to be revealed in Cleveland at the LCA conference next July. However, we already know that it is recessive! This is great news for those with LCA caused by this gene who wish to have children, as with recessive patterns the affected person would have to have a partner with the same mutated gene, which is extremely rare. Also, as far as I know recessive mutations may be better targets for gene therapy, though it's probably a bit too soon to talk of therapy.

This is all very exciting!

Fran