Rare Disease Report

Penn Orphan Disease Center Partners with FAST for Angelman Syndrome Research

FEBRUARY 14, 2017
RDR Staff
February 15th is international Angelman syndrome day, and what other better way is there to celebrate than establishing a partnership towards a cure?

The Perelman School of Medicine at the University of Pennsylvania’s Orphan Disease Center (ODC) is partnering with FAST, a nonprofit foundation for Angelman syndrome (AS), for AS gene therapy research.
FAST will provide funding towards establishing a gene therapy research program led by Penn’s ODC.
Over the years, Penn Medicine’s ODC has gained vast experience in novel therapeutics and has been ranked among the top five medical schools in the United States for the past 18 years.
Researcher and director of the ODC James M. Wilson, M.D., Ph.D was recognized as one of 12 leading pioneers in cell and gene research with the Pioneer Award given by Human Gene Therapy 2 years ago.
The ODC is currently developing novel gene therapy approaches for more than 20 rare diseases, and now will work on a treatment for AS.

About FAST

The Foundation for Angelman Syndrome Therapeutics (FAST) is a Section 501(c)(3) nonprofit organization singularly focused on funding research that holds the greatest promise of treating Angelman syndrome. Paula Evans, the mother of a young girl with Angelman syndrome, founded FAST in 2008. The foundation is based in Downers Grove, Ill.
FAST is the largest, non-governmental funder of Angelman-specific research. FAST has brought together more than two dozen scientists from multiple universities and pharmaceutical companies. The team is called the “FIRE” Consortium: FAST Integrative Research Environment. As FAST's FIRE team races toward a cure, their efforts are gaining significant attention. The Marnier-Lapostolle Foundation recently awarded a $5.8 million grant to FAST. The gift is the largest private grant ever made to Angelman research. Inspired by a family member who has a child with the disorder, the Marnier-Lapostolle Foundation conducted an intense and highly competitive process before investing their money in FAST. The family that created Grand Marnier founded the Marnier-Lapostolle Foundation.
FAST raised more than $1.2 million at their annual gala, up from $417,000 the previous year. FAST has challenged the Angelman community to raise an additional $2 million before June 30, 2017, to fund the next critical phase of research involving gene therapy. FAST’s goal is to finalize the scientific foundational work necessary to test therapies in human clinical trials within two years or less. Learn more at CureAngelman.org/CAN, and be sure to check out the amazing incentives for fundraisers, including dinner with actor Colin Farrell and researcher Dr. Edwin Weeber.
For more information, visit http://cureangelman.org/

About Angelman Syndrome

Angelman syndrome (AS) is a neuro-genetic disorder that occurs in approximately 1 in 15,000 live births. It is due to a mutation of a gene UBE3A found on chromosome 15. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with AS will require life-long care. Two striking features of these patients are their ‘happy’ demeanor and their susceptibility to seizures.
There is currently no specific treatment for AS. Most persons will require medication to control seizure activity and/or any other physical system associated with the disease. Various forms of physical, occupational, communication, and/or behavior therapies are also common.

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