FAST is the largest non-governmental funderof Angelman syndrome research.
FAST Funded
Research
Current Trials
& Studies in AS
2020 Science
Summit
Roadmap
to a Cure
Research Grant
Application
Roadmap to a Cure
FAST’s Roadmap is focused on three elements supporting therapeutic approaches that have the potential to reverse the effects of the disorder in children, teens and adults.
Gene Therapy
FAST is funding research in gene or protein replacement therapy and gene activation therapy. Human clinical trials are underway today!
Gene or protein replacement therapy delivers healthy copies of the UBE3A gene or protein to compensate for the missing or underperforming gene. Treatment is delivered via AAV or Lentivirus (stem cell).
Gene activation therapy, in AS referred to as “stop the stop”, works to activate the normally silent paternal gene to compensate for the underperforming or missing maternally inherited gene. Treatment is delivered via ASO, ATO, or CRISPR.
Downstream Therapy
Downstream therapy uses drugs to treat the symptoms of Angelman syndrome like seizures, sleep, and communication. There are many drugs that are already approved by the FDA that might be useful for treating AS. Finding these drugs and showing that they can be repurposed brings new treatments for AS.
Therapeutics being targeted often improve synaptic function and communication between neurons in the brain thus increasing tonic inhibition and improving quality of life. Different strategies being pursued include: novel compounds or peptides, Ketone supplements, anti-inflammatory or regenerative medicines, and GABA replacement.
Prepare!
FAST supports the Global AS Registry and Natural History studies that collect key data from those living with AS such as: communication, sleep, gross/fine motor, and seizures. This data is used to inform research and trials.
Angelman Biomarker Outcome Measures (ABOM) consortium was established to collaborate across AS patient centered organizations, pharmaceuticals, and researchers to determine what biomarkers and measures would be most impactful to individuals for assessment in clinical trials.
FAST funded animal models with various genotypes to ensure that therapeutics can be tested against the various AS genotypes.
FAST is the driving force behind research for a cure.
Angelman SyndromeAntisense Oligonucleotide Therapy
Antisense oligonucleotides (ASOs) used in the treatment of Angelman syndrome focus on preventing the paternal UBE3A gene from being silenced – a condition caused by the UBE3A antisense transcript (UBE3A-AS). By “knocking down” the UBE3A-AS, the paternal gene becomes active, expressing functional UBE3A. ASOs are delivered intermittently through a lumbar puncture into the CSF and, while not a one-time treatment, can be repeatedly administered to a patient over a long-term.
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FAST’s Infrastructure Program
David Segal, Ph.D., Jill Silverman, Ph.D., and the team at the University of California, Davis received a grant from FAST to build a lab devoted to Angelman syndrome (AS) research, establishing a stable infrastructure in which this team can evaluate multiple therapeutics simultaneously through, at least 2025. The Infrastructure Grant will create a new generation of scientists focused on AS research with combined expertise in molecular and behavioral components of AS; provide lab equipment and supplies; maintain AS cell lines and rodent model colonies at the University and provide long-term stability for this dedicated team to keep their focus on identifying and evaluating potential therapeutics for the treatment of Angelman syndrome.
Multiple pharmaceutical companies have potentially promising therapeutics for the treatment of AS. However, they do not have expertise in AS, or the specific tools necessary to properly evaluate these drugs for this population. This Infrastructure Grant allows AS experts to provide those services and elucidate if a potential therapeutic warrants further development toward potential human clinical trials.
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David Segal
Ph.D.
UC Davis Genome Center, Department of Biochemistry and Molecular Medicine, Pharmacology,
MIND Institute,
UC Davis School of Medicine
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Specialty: Genomic therapeutics
David Segal
Ph.D.
Professor
Jill Silverman
Ph.D.
Department of Psychiatry and Behavioral Sciences; University of California Davis School of Medicine
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Speciality: preclinical translational evaluation of pharmacological treatments for autism spectrum disorders
Jill Silverman
Ph.D.
Assistant Adjunct Professor
The Impact
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, especially those with other neurodevelopmental disorders.
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FAST Funded Research
GIA2020-001: 2020-2021
Genetic Diagnosis Campaign in Argentina. Casa Angelman developed a National Genetic Campaign to provide testing for children across Argentina and with assistance from FAST, will be able to bridge that gap for many Argentinian families.
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FT2020-006: 2020-2023
Generation and characterization of a new AS mouse model that recapitulates the large deletion of human 15q11-q13 and a control line that carries a deletion of all genes in 15q11-q13 but UBE3A Primary Investigator: Y. Jiang Dr. Jiang will create a novel ~6MB full deletion Angelman syndrome mouse model. As we near a therapeutic aimed […]
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FT2020-005: 2020-2021
Use of the Actimyo device for evaluation of tolerability and characterization of Angelman syndrome specific gait patterns. Primary Investigator: J. Duis Dr. Duis used the ActiMyo device(s) in a clinical study to evaluate the tolerability and gait parameters in Angelman syndrome. This device was shown to be well tolerated and associated with various unique gait […]
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Helpful Resources
- FAST is Global
- Cure Angelman Now
- Genotypes
In an age where Angelman syndrome therapeutics are being developed on a global scale, FAST is working to make sure communities across the world are organized and prepared to participate in studies for potential therapeutics.
As diverse as our Angelman community is, we are all united in one goal: a better future for our children. FAST is committed to bringing life-changing treatments to all individuals with Angelman syndrome, but we need your help!