Future of Rare Disease Research: Ethics, Treatments, and Access

PHILADELPHIA- In celebration of the 10th Anniversary of the Orphan Disease Center, pioneering gene therapy scientist James Wilson, MD, PhD, a professor and director of the Penn Gene Therapy Program and the Penn Orphan Disease Center at the Perelman School of Medicine (PSOM) at the University of Pennsylvania, will lead a two-day symposium, featuring former Prime Minister of the United Kingdom and rare disease parent David Cameron and National Institutes of Health Director Francis Collins, MD, PhD, among many others. The event will take place on Wednesday, February 24th and Thursday, February 25th.

The ODC marks this anniversary in a phase of unprecedented hope and opportunity for patients and families in the rare disease community. "We've gone from an entire area of medicine with no treatments and little science, to a situation where we're looking at lifesaving therapies - efforts like those of the ODC have transformed what it means to be living with a rare disease," Wilson said. "When I look at patients, the stunning difference from ten years ago when we started, and now, is hope."

The ODC is the first center of its kind, dedicated to identifying promising therapies for rare diseases and tackling obstacles to rare disease drug development. In particular, the ODC focuses on the study of diseases with few, or in many cases no, treatment options - and aims to provide access to patients of all populations. The center has awarded nearly $38 million to more than 120 institutions in 25 countries since its founding in 2011.

Wilson's lab has been pioneering gene therapies for decades. He discovered a new family of adeno-associated viruses and developed them into gene therapy treatments that deliver healthy DNA into the correct cells. Wilson developed this technology largely to treat rare and orphan diseases.

In the biopharma industry, there are 82 preclinical programs and 41 clinical programs that use Wilson's AAV vectors. Approximately 58% of classic gene therapy trials use Penn-developed technology coming from Wilson's lab. In 2019, the Wilson lab celebrated the FDA approval of Zolgensma, the first approved drug for the treatment of spinal muscular atrophy, and is now collaborating with Regeneron to study use of AAV vectors to deliver Regeneron's COVID-19 antibody cocktail for prevention and treatment of COVID-19.

Other prominent speakers at the event will include Janet Woodcock, MD, acting commissioner of the U.S. Food and Drug Administration and director of the FDA's Center for Drug Evaluation and Research, and Michael S. Brown, MD, PSOM alumnus and a professor at University of Texas Southwestern and recipient of the Nobel Prize in Physiology or Medicine. Topics of discussion will include the ethics of rare disease research, genomics in rare disease diagnostics, patient registries, industry perspectives, and global access.