Mentee
Sneha Rangu, BS
Albert Einstein College of Medicine
Mentor
Leslie Castelo-Soccio, MD, PhD
National Institutes of Health
Overview
Mosaic RASopathies are a group of genetic diseases caused by problems in the RAS pathway, an important pathway for the cells in our body to communicate. Patients with these mutations can have changes in their skin at birth and have an increased risk of cancer, growth disturbances, and psychological/behavioral issues. Several doctors may be involved in the patient’s care such as pediatric dermatologists, oncologists, and neurologists. Despite these serious risks, there are no suggestions on how to counsel patients with RAS mutations and skin involvement. Our study aims to address this problem by creating a review of the existing knowledge on mosaic RASopathies that affect the skin. This study will also help build guidelines by experts on how to best manage patients with mosaic RASopathies. Ultimately, this review will help improve the patient’s experience when seeking care from a pediatric dermatologist, allowing them to be connected to the appropriate resources.
Status
This project was funded through a 2024 PeDRA Emerging Investigator Research Grant.
