Fellow
Jaron Nazaroff
University of California, Irvine
Mentor
Jean Tang, MD, PhD
Stanford University
Overview
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare skin disease caused by changes in patient’s DNA. These changes in DNA cause fragile skin that leads patients to develop painful blisters, eye problems, low blood counts, and scaring of their hands and feet. The severity of this disease can prevent RDEB patients from seeing a dermatologist specializing in RDEB. These specialists sometimes offer genetic testing to find specific changes in DNA. Even though RDEB patients suffer from the same disease, there is significant variability in the symptoms and severity of disease between RDEB patients. It is our goal to look at the specific DNA changes and see if there is an association with how severe their disease is and the symptoms RDEB patients present with. We will do this by offering at home genetic testing and an online survey so that RDEB patient around the country can participate.
Status
This project was funded through a 2022 PeDRA Research Fellowship Grant.