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PENN MEDICINE
 

Current Issue: Fall 2011

A New Center Will Tackle "Orphan" Diseases

$10 Million Gift Will Help Fill a Significant Gap in Research and Treatment

By John Shea

Earlier this year, Rachel Gill, who has Friedreich’s ataxia, decided to donate funds she had received from the Make a Wish Foundation to the Friedreich’s Ataxia Research Alliance (FARA). Combined with a matching gift from her father’s employer, DST Systems, the total amounted to $10,000. The check presentation was made at Penn Medicine – where Robert B. Wilson, M.D. ’89, Ph.D., and David R. Lynch, M.D., Ph.D., G.M.E. ’95, program director of the Friedreich’s Ataxia Program at The Children’s Hospital of Philadelphia, gratefully received it on behalf of the nonprofit advocacy organization.

Friedreich’s ataxia is a debilitating, life-shortening degenerative neuromuscular disorder that leads to loss of coordination in the arms and legs, fatigue and muscle loss, aggressive curvature of the spine, diabetes mellitus, and a dangerous enlargement of the heart. According to FARA, it affects about one in 50,000 people in the United States. In other words, it is what is commonly known as an “orphan disease,” defined as one that affects fewer than 200,000 people. At the FARA site, under “Treatments,” there is no equivocation: “There are currently no treatments for FA.”

Wilson, professor of pathology and laboratory medicine at the Perelman School of Medicine, is a founding member of FARA’s board of directors and the organization’s founding scientific director. In a description of one of his scientific projects, he is equally blunt: there are “no approved treatments” for Friedreich’s ataxia. Along with colleagues from Penn’s Department of Chemistry, Amos Smith, Ph.D., and Donna Huryn, Ph.D., Wilson was one of the recipients of an award from Penn’s Institute for Translational Medicine and Therapeutics two years ago. The goal was to optimize certain compounds for potential use in treating FA. But in general orphan diseases receive little funding, which means fewer advances in research and treatments. That situation makes the support from Rachel Gill and ITMAT all the more important.

Other researchers at Penn Medicine have not shied away from the challenge of orphan diseases, and sometimes they have achieved noteworthy advances. For example, in 2008, Jean Bennett, M.D., Ph.D., and Albert M. Maguire, in the Department of Ophthalmology, announced that their team had been able to return partial sight to children with Leber’s congenital amaurosis. A rare disease, LCA leads to total blindness because of retinal degeneration. A few years earlier, Frederick Kaplan, M.D., and Eileen M. Shore, Ph.D., of the Department of Orthopaedic Surgery, discovered the gene that causes fibrodysplasia ossificans progressiva. FOP is a genetic condition that causes the body’s skeletal muscles and soft connective tissue to turn into bone, rendering it impossible for the patient to move. Penn’s Center for Research in FOP and Related Diseases is the only center in the world dedicated to the disease.

According to Glen Gaulton, the new center will build strong collaborative relationships at Penn and elsewhere, "all designed to translate innovative research into the clinic. There's simply nothing else like it."

But the situation for orphan diseases on the whole is grim. According to a report by the Institute of Medicine, Rare Diseases and Orphan Products: Accelerating Research and Development (2010): “Most of these conditions are serious and life-altering. Many are life-threatening or fatal. . . . Because the number of people affected with any particular rare disease is relatively small and the number of rare diseases is so large, a host of challenges complicates the development of safe and effective drugs, biologics, and medical devices to prevent, diagnose, treat, or cure these conditions.” Among the main challenges the report cites are difficulties in attracting public and private funding for research and development and recruiting sufficient numbers of research participants for clinical studies.

That’s why a new center at Penn Medicine can make a substantial impact in the field. Thanks to a $10 million gift from a donor who prefers to remain anonymous, the Perelman School of Medicine has launched a first-of-its kind Penn Center for Orphan Disease Research and Therapy. The interdisciplinary center will bring together approaches to attacking and treating orphan diseases by establishing facilities dedicated to research, translating scientific findings into therapies, fostering targeted grant awards, and educating physicians and researchers interested in the field. The center’s goal is to lead an international, coordinated effort to eradicate orphan diseases. One of the most important features of the new center will be a state-of-the-art drug-screening laboratory, robotically controlled, that will allow researchers from around the world to rapidly probe libraries of compounds that already exist for possible use as effective treatments.

Image
In the continuing research into the rare disease fibrodysplasia ossificans progressive (FOP), a team led by Frederick S. Kaplan, M.D., pinpointed the source of immature cells that spur misplaced bone growth. The image, courtesy of the Journal of Bone and Joint Surgery, shows the stages of metamorphosis of muscle tissue into bone tissue in a mouse model. A: Inflammation in muscle tissue (M = muscle cells). B: Destruction of muscle cells (FP = fibroproliferation). C: Formation of cartilage scaffold before bone formation (C = cartilage). D: Formation of mature bone (B = bone).

As Glen N. Gaulton, Ph.D., executive vice dean and chief scientific officer, put it, the center “will build not only strong collaborative relationships throughout Penn but also with other leading academic medical centers, as well as public and private institutions – all designed to translate innovative research into the clinic. There’s simply nothing else like it.”

By investing in the necessary research that large pharmaceutical companies avoid, the center aims to spur progress in finding cures. A crucial first step is helping to increase awareness of orphan diseases, their causes and potential treatments. The IOM report offers some hope: “Because many rare conditions stem from defects in a single gene, they offer opportunities for faster progress, especially given scientific and technological advances that identify the genetic basis of rare diseases and find molecular targets for the development of new treatments for these diseases.” The report also notes that, as previous research has shown, “some of these advances will undoubtedly illuminate disease mechanisms and treatment avenues for more common conditions.”

“This is a wonderful example of philanthropy in action,” said J. Larry Jameson, M.D., Ph.D., executive vice president of the University of Pennsylvania for the Health System and dean of the Perelman School of Medicine. “I am proud that Penn Medicine is taking a clear leadership position in transforming the health of millions.”

Jameson’s predecessor, Arthur H. Rubenstein, M.B,B.Ch., will serve as special advisor to the center and oversee a search for a director.

In a publication of the National Ataxia Foundation four years ago, Robert Wilson reported on the “long, complex, and very expensive process to take a drug from the laboratory all the way to approval in the clinics.” One of the last steps, he wrote, is to establish efficacy, which typically involves hundreds of thousands of patients. But that is a difficult hurdle for any particular orphan disease and “puts up even further hurdles for drug companies who are willing to develop drugs for rare diseases.” Those are some of the very challenges the Penn Center for Orphan Disease Research and Therapy expects to solve.

 

 

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