Rare diseases like RDH12 affect people around the globe. It flips our world upside down and forever changes us.
Twenty-seven genes have been found to cause Leber's Congenital Amaurosis (LCA) when mutated. One of these genes is RDH12, which normally works by recycling molecules known as retinols that are important in the eyes ability to detect light and detoxify damaging chemicals. When RDH12 is not functioning the cells of the retina die.
LCA effects 1 in 100,000 people, and about 2.7% of these cases are caused by a mutation in the RDH12 gene. This means, that in the research community, RDH12 has received little to no attention. With numbers of affected so small, pharmaceutical companies see no profit and will not fund the research of RDH12.
The RDH12 Foundation — USA
In July, 2010 the first fundraising group for RDH12 was established in the U.S. when four families met at a LCA conference in Philadelphia, PA. They immediately bonded over the one thing they all had in common—a young child with LCA caused by a mutation in the same gene, RDH12.
The conference was both an exhilarating and frustrating experience for all of them. What had looked like an assured future of blindness for their children suddenly didn’t look so certain. They saw reports of new therapies being made available to some LCA patients that were changing their lives and giving them their vision back. Although this work showed what could be done for LCA, none of these treatments focused on the RDH12 gene which was so rare that no work was being done, nor was there any future plans to do so.
It was at this time that they decided that they were not going to patiently wait in line for the research to turn it’s attention and funding to RDH12. They were going to try to make sure that a cure would come before their sight was gone. This is when the RDH12 Fund for Sight was born.
Candle in The Dark – Europe
This story begins in Belgium, when the parents of three year old Raphaël were told their son had LCA. Devastated to learn what was going to happen to his eyesight, they decided to take action. After researching more about the disease, it became clear to them that gene therapy offered a future not just for their son, but potentially for all of those who face the prospect of blindness due to LCA. They learned that despite the initial success of gene therapy, current research into inherited retinal diseases is receiving little financial and commercial interest, so they started A Candle in the Dark—Child Vision Research Fund. The Fund aims to support research efforts to increase the understanding and treatment of early-onset retinal diseases leading to blindness and raise public awareness of the condition.