Gene therapy research for childhood blindness gets a boost from Genzyme

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.
Related Posts

Eye Conditions and Syndromes, Visual Impairment
Congenital Glaucoma: Early Signs, Diagnosis, and Treatment Options for Young Children
Congenital glaucoma is a disease where the pressure inside your baby’s eye is too high. This can damage the optic nerve and can even make your child go blind.

Eye Conditions and Syndromes, Visual Impairment
Albinism and Vision: Unraveling the Myths and Understanding the Facts
Albinism is a genetic condition that reduces melanin. There are many myths about albinism and vision, so educating yourself with the facts is important.

Eye Conditions and Syndromes, Visual Impairment
Retinopathy of Prematurity (ROP): What Parents Need to Know
Retinopathy of prematurity is common in babies born before 33 weeks. Early intervention can help prevent blindness in babies with this condition.