Time of Transition: A Fond Farewell and a Warm Welcome

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Trisomy 21 Update

It is with a heavy heart that we bid farewell to David Lynch, MD, PhD, as he departs from the world of trisomy 21 (Down syndrome) to pursue his passion in Friedreich’s ataxia (FA), a rare, progressive neurogenetic condition found in approximately one in 50,000 people worldwide. While it is relatively rare, FA is the most common form of inherited ataxia, a condition characterized by a progressive lack of coordinated movement and loss of balance. There is currently no cure or approved drugs to treat FA.

On March 6, CHOP, Penn Medicine and the Friedreich’s Ataxia Research Alliance (FARA) joined forces to launch  the Friedreich Ataxia Center of Excellence, a world-class  program aimed at improving research and care for this degenerative disease. The new center is co-directed by Dr. Lynch, the program director at CHOP, and Robert B. Wilson, MD, PhD, professor of Pathology and Laboratory Medicine at the Perelman School of Medicine at the University of Pennsylvania.

Dr. Lynch’s tenure as director of the Trisomy 21 Program began in 2003. While his accomplishments during this time have been innumerable, it is his compassion, insight and kindness that will be missed most. We wish him well in all of his future endeavors and thank him for all that he's done for this program!

Mary Pipan, MD, will now serve as Trisomy 21 program director. The Trisomy 21 team also welcomed neurologists Michael Rubenstein, MD, and Nicole Ryan, MD, as the newest additions to our team.

Dr. Rubenstein is an assistant professor of clinical neurology at the Perelman School of Medicine and an attending neurologist at the Hospital of the University Pennsylvania. He received his medical degree from West Virginia University School of Medicine and neurology training at the University of Virginia Health System and West Virginia University Hospital. Dr. Rubenstein has been in practice for more than 25 years and will be working with our existing adult trisomy 21 team to care for adult patients with neurologic concerns.

Dr. Ryan is an assistant professor of clinical neurology at the Perelman School of Medicine and an attending neurologist here at CHOP. She received her medical degree from Albert Einstein College of Medicine and neurology training at the University of Pennsylvania. Dr. Ryan has been in practice for 10 years and specializes in pediatric epilepsy.