Gene therapy research for childhood blindness gets a boost from Genzyme

Genzyme supporting gene therapy research for childhood blindness

Rare Disease Report (RDR) website reports that Genzyme is funding Dr. Shannon Boye’s research into gene therapy for Leber’s Congenital Amaurosis type 1 (LCA-1).

The $900,000 grant will help Boye, a University of Florida assistant professor of ophthalmology, to continue her work in restoring the function of the retina. The treatment calls for injecting a healthy copy of the gene directly into the retina for a one-time treatment.

Boye’s lab has already been successful in treating the retinal dysfunction associated with LCA-1 in animals.

LCA-1 has about 14 different genetic mutations; it affects the shape of the retina and occurs in children under the age of one, causing severe visual impairment. At this point, there is no treatment or cure. It is one of the most common causes of blindness in children.

Boye’s research is focusing primarily on the guanylate cyclase gene (GUCY2D). This is the gene that affects the ability of the retina to take electrical signals and convert them into the light that the brain can then turn into vision.

Genzyme, a biotech company in Cambridge, Massachusetts, which focuses exclusively on rare diseases and multiple sclerosis, will have the opportunity to license the treatment before it goes to clinical trials.

Additionally, the Foundation Fighting Blindness is also supporting Boye’s research. Given Boye’s success in this area, it would seem that this will be money well spent.

The article on RDR can be found here.


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