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 Philly Inquirer StoryPhiladelphia Inquirer:

A Philly-area woman’s medical mystery leads to a diagnosis shared by only 43 families worldwide

by Terri Akman, For the Inquirer


RVCL-S / RVCL

Learn more by exploring these links:


Precision and Personalized Medicine at Penn

We partner with patients, physicians, and scientists from around the world in an effort to develop precision and personalized medicines for RVCL. 
Thanks to generous support from The Clayco Foundation, as well as from the families and friends of patients with RVCL, we are pushing forward faster than ever in this effort.
Our team consists of a group of rheumatologists, neurologists, ophthalmologists, genetic counselors, researchers, and research assistants, all with the singular goal of helping you and your family. 
Click here to learn more about RVCL, including about genetics, symptoms, and diagnosis.

What is CRISPR and will it work for RVCL?

We are using a specialized form of CRISPR (gene editing) that corrects the type of mutation found in RVCL.  We are also collaborating with experts on delivery systems, so that we can use CRISPR to treat RVCL. This is an exciting potential treatment option, but using CRISPR to treat RVCL is no small task. Nevertheless, CRISPR is one of the key personalized medicine pathways that we are actively pursuing.

The Pavilion

Penn Medicine recently completed construction of its new Pavilion. The Pavilion is designed to help bring innovative therapies from the research lab to the bedside.  Check it out in this drone tour, narrated by John Legend.

Perelman School of Medicine Events

  • International RVCL Symposium Stay tuned
    To be announced soon...
  • RVCL Support Group Tuesday, March 8, 2022 7 PM EST (6 PM Central)

    Email us for more information.

More Events