A pioneer on the frontier of genetic medicine and his team at one of the nation’s top-five medical research schools have joined forces with FAST (Foundation for Angelman Syndrome Therapeutics) to develop a treatment for the rare disorder Angelman syndrome.

Researcher James M. Wilson, M.D., Ph.D., has been working for three decades to develop effective strategies to treat and cure genetic diseases. Wilson directs the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania, which focuses on making rare disease research a priority.

The partnership with FAST is a natural.

Angelman syndrome is a neuro-genetic disorder affecting one in every 15,000 individuals, totaling about 490,000 people worldwide. It is often misdiagnosed as autism or cerebral palsy. AS is generally diagnosed in children within their first two years of life and is characterized by debilitating seizures, balance and motor impairments, and a lack of speech. But Angelman syndrome is not a degenerative disease. Rather, it is caused by a lack of function of a single gene, and scientists like Wilson believe that symptoms of the disorder could be reversed using gene therapy.

FAST is a nonprofit organization founded by Paula Evans, an Illinois mother whose daughter was diagnosed with Angelman syndrome. FAST raises money to fuel cutting-edge research and takes an active role in drug development to treat, and ultimately cure, the disorder. Through Evans’ leadership, FAST has built relationships with researchers at multiple universities. Wilson and Penn’s Orphan Disease Center is the latest research laboratory to join the FAST team.

FAST will provide funding to Wilson and his team to develop an effective gene therapy strategy for the treatment of Angelman syndrome.

“By combining the Orphan Disease Center’s experience in novel therapeutics with the tremendous progress made by FAST and its families, caregivers and scientists,” Wilson said, “we have set the stage for a very aggressive and exciting research and development plan.”

FAST’s partnership with Wilson and his team is an important milestone for the Angelman community. Wilson has emerged as a leader in the field of gene therapy and continues to be at the forefront of genetic innovation. Two years ago, Wilson was recognized as one of 12 leading pioneers in cell and gene research with the Pioneer Award given by Human Gene Therapy, a peer-reviewed journal of the medical research community. George Dickson of the University of London, Surrey, recently heralded Wilson’s work, saying: “His unparalleled contributions to the adenoviral and AAV vector fields over more than 25 years have been profound and seminal.”

Wilson has focused his lab on the development of novel virus-like particles called vectors that can carry replacement genes into the body, one of which has been used to treat a rare form of pancreatitis and became the first gene therapy product approved in the Western hemisphere. The ODC is currently developing novel gene therapy approaches for more than 20 rare diseases.

Wilson’s decision to take on Angelman syndrome as his next project is significant news for the gene therapy community and families affected by Angelman syndrome.

“All of the board members of FAST are parents who are working toward breakthrough treatments for our children,” said FAST Chief Scientific Officer Dr. Allyson Berent. “To have an accomplished visionary researcher developing a potential gene therapy treatment for AS indicates we are closer than ever to our ultimate goal. Dr. Wilson and the team at Penn have such a successful track record in the field of gene therapy, and we are beyond enthusiastic that, for our children, the time is now.”

Wilson agrees that there are reasons to be hopeful. “We are entering a remarkable era of gene therapy research that will accelerate its development,” he said. “After 30 years of science, we have the technology and know-how to safely and efficiently transfer genes into human cells. Our goal is to develop a gene therapy for AS to replace the gene in children who are lacking a functional copy.”