The RVCL Research Center
Retinal vasculopathy with cerebral leukoencephalopathy (RVCL, also known as RVCL-S or HERNS) is a rare disease that affects 100% of people with mutations in a specific region of the TREX1 gene. In families affected by RVCL, about half of all family members have the disease.
The University of Pennsylvania (Penn) was our nation's first university and medical school. Today, the University of Pennsylvania and its hospital are leading the way in gene therapy.
The RVCL Research Center at Penn is performing cutting-edge research. Our goal is to develop precision and personalized therapies for RVCL.
We have assembled a team of expert clinicians, researchers, and genetic counselors, who support patients and families with RVCL.
Click here for more in-depth information about RVCL, symptoms, diagnosis, genetic testing, and treatment.
Gene Therapy Update:
The Miner laboratory can now fully correct TREX1 mutations in cultured cells in the laboratory. Now the goal is to develop delivery systems, and to test the safety and efficacy of gene therapy in model systems of RVCL.
by Terri Akman, For the Inquirer