It’s apropos that Rare Disease Day 2016 will be held on the rarest day on the calendar—Leap Day, February 29.
However, collectively, rare diseases are not uncommon. About 30 million Americans, nearly 10 percent of our population, are affected by one of 7,000 rare diseases. They’re an important public health issue, making it incumbent upon us to work hard to eradicate them.
For those of you with a connection to the Foundation Fighting Blindness, you likely know the myriad challenges of progressive vision loss from a rare, blinding retinal disease and why it’s so important to find a treatment or cure for the condition.
In the quest for therapies for rare diseases, including those that affect the retina, we are at an exciting scientific juncture. That’s largely because of our greatly expanded knowledge of genetics. We are getting very good at finding disease-causing genes, understanding their functions and developing methods for replacing and correcting them when defective.
Genetic research is important for rare diseases because approximately 80 percent are genetic, and nearly all rare, inherited retinal conditions are caused by mutations in a single gene. Once the mutated gene associated with a disease is identified, researchers have a clear target for a therapy.
Thanks, in large part, to the Foundation’s commitment to genetic research, we now have gene therapies in human studies for choroideremia, Usher syndrome type 1B, Stargardt disease, retinoschisis and Leber congenital amaurosis (LCA). There’s even a clinical trial of an optogenetic therapy that holds promise for restoring vision in people who are completely blind, regardless of their gene mutation.
Most exciting, Spark Therapeutics is seeking approval from the U.S. Food and Drug Administration (FDA) for its vision-restoring, RPE65 gene therapy for certain forms of LCA and RP. It could become the first gene therapy ever approved by the FDA for the eye or an inherited condition, providing affirmation to companies and researchers around the world that gene therapy is a viable way to overcome inherited diseases.
The Foundation’s commitment to genetic research is stronger than ever. We currently fund about 30 gene-therapy projects, including those for Best disease, X-linked RP, autosomal dominant retinitis pigmentosa and several forms of Usher syndrome and LCA. In addition, we support several gene-discovery efforts to find the remaining genes associated with retinal diseases.
If you have a rare, inherited retinal disease, now is the time to stand up and be counted. Sign up on My Retina Tracker®, the Foundation’s free, secure and confidential patient registry. Researchers and companies worldwide are using the registry to study and analyze patients’ disease information and identify candidates for clinical trials.