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.
RVCL Nurse Navigator: 267-600-6525
Welcome to Martyna Dziemian, our new RVCL Nurse Navigator at Penn. She joined us from the Neuroscience Inpatient Unit at the Hospital of the University of Pennsylvania. Born and raised in Philadelphia, she graduated from the University of the Sciences with her B.S. and then furthered her education at Widener University by obtaining a BSN. She is committed to facilitating the support of families and patients with RVCL. Please call our dedicated RVCL phone line anytime (24/7) to reach our team: 267-600-6525 We are grateful to Clayco Foundation for supporting our recruitment of Martyna.
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