This weekend is VisionWalk St. Louis, a fundraising event for the Foundation Fighting Blindness (FFB) that supports research of retinitis pigmentosa (RP), glaucoma, age-related macular degeneration (AMD), and other vision-stealing diseases.
Retinitis Pigmentosa
Retinitis pigmentosa is a degenerative eye disease affecting some 10,000 Americans that eventually leads to blindness. It manifests as early as childhood, when affected individuals often have “night blindness” – difficulty seeing in low light conditions. Peripheral and perceptive vision gradually decline with age, and by age 40, many people with RP are legally blind.
Mutations in as many as 60 genes may cause RP, at least 18 of which have been implicated in the autosomal dominant form of the disease (adRP). There is significant interest in pinpointing the causal mutations underlying this disease, particularly because clinical safety trials of gene therapy reported improved vision for several RP patients. We have an ongoing collaboration with Stephen Daiger and colleagues at the University of Texas (Houston), who have collected a large cohort of RP families with multiple affected individuals. If you read my VarScan paper, you might have noticed that our collaborative sequencing efforts were supported by Foundation Fighting Blindness.
Family Connections: Real Life Genetics Quiz
I admit that my interest in RP goes beyond research alone – my aunt, cousin, and several of their relatives are affected. My aunt is under driving restrictions due to her vision, and my cousin was told that he could go blind within a decade. Recently I sat down with them to discuss joining the family cohort and also to take down the pedigree. Here it is:
Family Pedigree of Retinitis Pigmentosa
While the pedigree is not complete enough to be certain, I have a guess as to the inheritance pattern that it suggests. But I’m not a classically trained geneticist, so here’s your chance to chime in. Let me know what kind of inheritance you think it is, and why. The correct answer, whatever it may be, has real life implications for some of my relatives. The family chair of VisionWalk St. Louis, Kelly (another cousin of mine), is the mother on the bottom-left of the pedigree. She and her her husband have two children; she was told – perhaps erroneously – that she was a carrier, so they’ve undergone rigorous tests. It would be helpful to know the genetic probabilities that either child inherited RP.
Support Team Koboldt at the VisionWalk
I’m happy to report that Team Koboldt will make a strong showing tomorrow at VisionWalk – with coordinating T-shirts to boot. We’re currently the 5th place team in terms of funds raised so far for St. Louis VisionWalk – and we’re gunning for the fourth place team. So if you’d like to join Team Koboldt and support vision-saving research, here’s the link: