The Max and Minnie Tomerlin Voelcker Fund recently gave a $100,000 gift to the Retina Foundation of the Southwest for the Texas 1000 Project, an ambitious project with an overall goal to genotype 1,000 patients with inherited retinal diseases. Determining the genetic mutations causing retinal degenerations such as retinitis pigmentosa, Usher syndrome and Stargardt disease is important for counseling patients about their visual future. However, the overriding goal of the project is to increase the number of well-characterized patients available for clinical trials. Enrollment in nearly all treatment trials for inherited retinal diseases requires that the mutation be known.
Currently, there are 8,170 total patients, ranging in age from infant to 96 years old, enrolled in our genetic testing registry. Nearly 5,000 of these patients have been diagnosed with genetic eye diseases, including retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, Leber Congential Amaurosis, Cone and Cone-Rod Dystrophy and various other inheritable retinal diseases. Currently on average, 250 new patients are added every year.
Genetic testing is by next-generation sequencing (NGS) of a panel of 163 genes known to cause retinal disease. For general questions or questions about how patients can be referred into the project, please contact Kaylie Jones, Research Associate, at 214-363-3911, ext. 121.