$3.25 Million Gift Creates Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence

Three longtime allies have joined forces to create the new Penn Medicine/CHOP Friedreich’s Ataxia Center of Excellence. The establishment of the center was catalyzed by a $3.25 million gift from the Friedreich’s Ataxia Research Alliance (FARA), in partnership with the Hamilton and Finneran families.

Friedreich’s ataxia (FA) is a progressive neurogenetic condition found in approximately 1 in 50,000 people worldwide. While relatively rare, it is the most common form of inherited ataxia, a condition characterized by progressive lack of coordinated movement and loss of balance. FA also involves degeneration of heart muscle and nerve cells. Symptoms usually begin in childhood, and most patients are confined to a wheelchair by their mid-to-late twenties. Myocardial failure and/or arrhythmias are the most common cause of premature death. Currently there are no approved drugs to treat FA.

For the past 16 years Penn Medicine, The Children’s Hospital of Philadelphia (CHOP), and FARA, a nonprofit organization dedicated to curing FA, have collaborated to provide and push forward the care needed by FA patients.

FARA, CHOP, and Penn Medicine have also shared in research and clinical trials that have elucidated the metabolic dysfunction underlying FA. Their work has created a database of well-documented patients and a pipeline of more than 20 drug candidates ready to be mined for new therapies. Today the FA clinical program at CHOP is the largest in the world.

The new Center’s team is working with pharmaceutical industry partners to develop drug candidates as well as biomarkers for FA, and this effort fits alongside a broader initiative at Penn Medicine: a gift from an anonymous donor recently founded the Center for Orphan Disease Research and Therapy to support the pursuit of novel therapies for rare diseases of all kinds.

The Friedreich’s Ataxia Center of Excellence is co-directed by David Lynch, MD, PhD, FA program director at CHOP, and Robert B. Wilson, MD, PhD, professor of Pathology and Laboratory Medicine at the Perelman School of Medicine. Drs. Lynch and Wilson both serve on FARA’s Scientific Advisory Board, and Dr. Wilson was a founding member of FARA’s board of directors and first chairman of its Scientific Review Committee.

The early goals and objectives of the Center include:

• Adding cardiac expertise in FA research and clinical care under the leadership of Kimberly Y. Lin, MD, a cardiologist at CHOP with board certification in pediatrics, internal medicine, and pediatric cardiology.
• Increasing capacity for and opening more clinical trials.
• Creating a dedicated drug discovery unit.
• Exploring new basic research avenues using micro RNA and epigenetics approaches.
• Establishing a biomarker development program with the expertise of Ian Blair, PhD, of the Perelman School of Medicine.

“Integrating cardiac expertise into the care of patients is one major step forward this gift allows us to pursue,” says Philip R. Johnson, MD, executive vice president and chief scientific officer at CHOP. “Rare diseases are often an area where philanthropy can make a difference, and the generosity of these donors will make a significant impact.”