Innovations in Vision Restoration - Finding Genes and Mutations Causing Retinitis Pigmentosa Leading to Promising Treatments

May 28, 2014 -
12:00pm to 1:00pm

Stephen P. Daiger, PhD
TS Matney Professor of Environmental and Genetic Sciences
Human Genetics Center, School of Public Health and
Department of Ophthalmology and Visual Science
The Univ. of Texas Health Science Center at Houston

Retinitis pigmentosa (RP) and related diseases are inherited, degenerative retinal diseases affecting more than 200,000 Americans.   RP is inherited in a “simple” Mendelian fashion in affected individuals and families but is exceptionally heterogeneous as a broad class of disease.  RP can be autosomal dominant, autosomal recessive or X-linked; mutations in more than 60 genes are known to cause RP; thousands of distinct mutations have been reported; and there is striking clinical variation, even among individuals with the same mutation.  Currently, disease-causing mutations can be detected in roughly half of cases.

Our research focuses on the autosomal dominant form of RP (adRP).  Applying a series of techniques including linkage mapping, next-generation sequencing and deletion detection, we have identified the disease-causing mutation in 71% of probands in a large adRP cohort.  Our goal is to help identify the remaining RP genes.  Three of the cohort families have been mapped to loci which are distinct from each other and exclude all known RP genes.  One family has a unique, rare variant in a novel gene segregating with disease in three independently-ascertained families, i.e., this is probably a new adRP gene.

Among other benefits, identification of RP genes has contributed to a better understanding of the basic biology of vision.  Of more importance, though, finding genes and mutations causing RP has contributed to clinical trials of gene-specific and mutation-specific treatments to slow progression of disease and restore vision in some patients.

Location and Address

Wednesday, May 28, 2014
12:00am – 1:00 pm
BST S 120

 
Lunch will be served at 11:45 am 
Please RSVP to snyderlb@upmc.edu