MSF Grant & Research Update
February 29, 2020

One of the greatest challenges faced by those living with a rare is the lack of evidence-based information. Thanks to the generosity of our donors, MSF has granted $17,000 in research funding to Dr. Angela E. Lin and Dr. Mark Lindsey of Massachusetts General Hospital - Harvard Medical School for the development of a Myhre Syndrome mouse model.

A mouse model is a colony of mice engineered in a laboratory to mimic the genetic mutation that causes a specific disease or syndrome. By studying these mice, scientists can learn about how these diseases might be treated in patients. The Myhre mouse model is already in process and is a vital step toward building the knowledge base needed to one day identify a drug that would ameliorate current symptoms and prevent worsening.

An additional $5000 was given to help fund a Clinical Research Assistant whose role is to coordinate clinical activities within the Myhre Syndrome Clinic of the MGH, monitor IRB protocols, expand and maintaining the REDcap patient database and assist in the coordination of patient visits.