Published on in CHOP News
March 16, 2014 — For the past 16 years, Penn Medicine, Children’s Hospital of Philadelphia (CHOP), and t he Friedreich’s Ataxia Research Alliance (FARA), a nonprofit organization dedicated to curing Friedreich's ataxia, have collaborated to provide and push forward the care needed by FA patients.
(Left to right): Grace Haupt, CHOP Friedreich's ataxia patient; Dr. David Lynch, Friedreich Ataxia program director at CHOP; Dr. Robert B. Wilson, professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania; Ronald Bartek, President of FARA; Jennifer Farmer, Executive Director of FARA; Dr. Philip R. Johnson, executive vice president & chief scientific officer at CHOP; Dr. Glen N. Gaulton, executive vice dean & chief scientific officer, Perelman School of Medicine at the University of Pennsylvania; Liam Dougherty, Penn graduate student and CHOP Friedreich’s ataxia patient
Friedreich’s ataxia (FA) is a rare, progressive neurogenetic condition found in approximately 1 in 50,000 people worldwide. While it is 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. Onset of symptoms usually occurs in childhood, and most patients are confined to a wheelchair by their mid-to-late 20s. Myocardial failure and/or arrhythmias are the most common cause of premature death. Currently there are no approved drugs to treat FA.
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.
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.
“Nothing is more rewarding than seeing science at work in the service of the patients and families who suffer from rare diseases such as Friedreich’s ataxia,” says Glen N. Gaulton, PhD, executive vice dean and chief scientific officer at the Perelman School of Medicine at the University of Pennsylvania. “Penn and CHOP are fortunate to support many faculty who dedicate their careers to the care of patients with and research on such rare diseases as FA. Funding for rare disease research is a constant challenge. We are thankful to the donors for this generous gift that significantly enhances our ability to make progress toward new biomarkers, drugs and hopefully, in time, therapies for FA.”
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.
“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.”
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. Lynch and Wilson both serve on FARA’s Scientific Advisory Board, and Wilson was a founding member of FARA’s board of directors and first chairman of its Scientific Review Committee. Wilson has completed a high-throughput drug screen of more than 340,000 compounds for FA drug discovery and is now working with medicinal chemists to narrow in on candidates for clinical trials. Lynch is the principal investigator on several FA clinical studies on disease progression, FA cell biology, and visual dysfunction, among other aspects of FA.
“Achieving a more holistic approach to both research and care is one main intent of our gift,” adds donor and FARA board member Tom Hamilton. “The Center will allow scientists and physicians to exchange insights regularly, not just as projects allow.
“It is very meaningful to me personally to be able to support these core research and care activities at a higher capacity,” says Jennifer Farmer, FARA executive director. “We know these families have needs that can be met, and that now will be met, while treatments are developed.”
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. Lin is also an assistant professor in the division of Cardiology and the department of Pediatrics at the Perelman School of Medicine.
- 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, A. N. Richards Professor of Pharmacology, Perelman School of Medicine.
Ronald Bartek, FARA president and co-founder, and his wife Rachel, enrolled their son Keith in the first Penn/CHOP FA clinical trial before FARA was established.
Bartek closed the inaugural Center of Excellence meeting last month by noting, “It is not by accident that the FA Center of Excellence is being established here at Penn and CHOP and that more FA patients and families come here than anywhere else in the world. It is because we have always known we will get the best clinical care available, participate in promising clinical trials, and learn about the exciting FA research going on here and around the world. Because the FA team here has always led the way for us, we have long dreamed of providing this team greater capacity to do even more. We are deeply grateful to the Hamilton and Finneran families whose generosity now enables that dream to come true. You know we are all depending on you and we know you will not let us down.”
About Penn Medicine
Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise.
The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 16 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $398 million awarded in the 2012 fiscal year.
The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania — recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; Chester County Hospital; Penn Wissahickon Hospice; and Pennsylvania Hospital — the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.
Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2012, Penn Medicine provided $827 million to benefit our community.
About Children’s Hospital of Philadelphia
Children’s Hospital of Philadelphia was founded in 1855 as the nation’s first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program receives the highest amount of National Institutes of Health funding among all U.S. children’s hospitals. In addition, its unique family-centered care and public service programs have brought the 535-bed hospital recognition as a leading advocate for children and adolescents.
About Friedreich’s Ataxia Research Alliance
The Friedreich’s Ataxia Research Alliance (FARA) is a national, public, 501(c)(3), non-profit, tax-exempt organization dedicated to curing Friedreich’s ataxia (FA) through research. FARA grants and activities provide support for basic and translational FA research, pharmaceutical/ biotech drug development, clinical trials, and scientific conferences. FARA also serves as a catalyst, between the public and scientific community, to create worldwide exchanges of information that drive medical advances. For more information about FARA, visit them online at www.curefa.org.
Karen Kreeger, Hospital of the University of Pennsylvania, 215-349-5658, or Karen.email@example.com.