FAST is the largest non-governmental funder of Angelman syndrome research.
invested since 2011
forecast for 2018-19
total over eight years
Brightest minds partner in race for cure
FAST brought together a multidisciplinary team of more than two-dozen scientists from top research universities and pharmaceutical companies. These men and women are the world’s leading experts on Angelman syndrome (AS), and they have joined forces on a focused path to a cure.
The “FIRE” Consortium: FAST Integrative Research Environment includes five expert laboratories from four universities. The team works collaboratively to find treatments for Angelman syndrome and, ultimately, a cure. Led by Edwin Weeber, Ph.D., University of South Florida, the FIRE Team has already cured the symptoms of the disorder in mice using several strategies.
Renowned gene therapy pioneer James M. Wilson, M.D., Ph.D., and his team from Penn Medicine’s Orphan Disease Center, recently joined forces with FAST to develop a treatment for AS. 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.
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FAST is finalizing the scientific foundational work necessary to test therapies in human clinical trials. Please take a moment to read on and learn how our Roadmap to a Cure will change the lives of people with Angelman syndrome and, potentially, millions more who have related disorders like autism and Alzheimer’s disease.
FAST’s Roadmap is focused on three strategies to treat Angelman syndrome. AS is not a degenerative disorder, and these approaches, which have already been tested in animal models, are believed to have the potential to reverse the effects of the disorder in children, teens and adults.
People with AS have a mutation, deletion or other defect in their UBE3A gene. Gene replacement therapy uses safe viruses to deliver healthy copies of the UBE3A gene into cells to replace the missing or underperforming gene. The goal is for the body to start making the UBE3A protein that is deficient or absent. A few gene therapy treatments have already been approved in Europe for rare disorders (e.g., Strimvelis), and many gene therapy trials are underway in the United States for a variety of disorders (e.g., Batten disease, San Filippo syndrome).
People have two sets of chromosomes – one inherited from the mother and one from the father. In a typical person, the maternally inherited UBE3A is active, while the copy of the gene inherited from the father is silenced in the neurons in our brains – a phenomenon known as imprinting. For individuals with Angelman syndrome, the maternal gene does not function properly. The goal of gene activation therapy is to turn on the normally silent paternal gene so there is an active copy producing the necessary UBE3A protein.
Downstream therapy uses drugs to treat the symptoms of Angelman syndrome and improve the quality of life for individuals with the disorder. There are many drugs that are already approved by the FDA that might be useful for treating Angleman syndrome. Finding these drugs and showing that they can be repurposed would be the fastest way to bring new treatments to the Angelman community. The U.S. Food and Drug Administration (FDA) established a Rare Disease Repurposing Database containing drugs found promising or already approved for treating rare diseases.
[larger]To learn more about FAST’s Roadmap to a Cure, click here.[/larger]
A cure for Angelman syndrome will have a tremendous impact on society at large. The gene that causes Angelman syndrome has been linked to several other diseases and genetic disorders involving learning and memory. The work FAST researchers are doing may be the gateway to therapies for other disorders that affect the lives of millions.
Because we know exactly what causes AS and it has already been cured in the laboratory, an investment in FAST is an investment of global proportion.
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FAST is committed to bringing practical treatments for Angelman syndrome (AS) into current medical practice as quickly as possible. While our priority is on funding translational and clinical research, we also support high-risk/high-reward discovery projects. FAST’s research program awards grants to the world’s best scientists who are focused on discovering and developing treatments, technologies and ultimately a cure benefiting those with AS.
The current focus of FAST-funded research is in supporting projects that have the potential for an immediate high impact on the Angelman community; therefore, priority will be given to research-based translational grants or those showing high promise for translating basic biomedical knowledge into clinical application.
FAST’s research program funds are raised exclusively through donations and grassroots fundraising activities initiated by FAST, our supporters and families of children with Angelman syndrome.
FAST offers the following grant programs:
FAST Targeted Research to Advance a Cure (FAST TRAC) Awards