Research

FAST is the largest non-governmental funderof Angelman syndrome research.

FAST Funded Research

FAST Funded
Research

Current Trials

Current Trials
& Studies in AS

Hear from Researchers

2022 Science
Summit

Grant App

Research Grant
Application

Roadmap to a Cure

FAST’s Strategic Roadmap to a Cure is an aggressive research agenda focused around the Four Pillars below.

230213 FourPillarsGraphic

Pillar 1: Fix Mom’s Gene

Replacing the missing or non-functional UBE3A gene in neurons of individuals living with AS.

Pillar 2: Turn on Dad's Gene

Activating the silent paternal copy of the UBE3A gene in neurons.

Pillar 3: Downstream Targets to Treat Symptoms

Focus on different molecular pathways and effector proteins impacted by the missing UBE3A protein. These drugs generally aim to improve the communication of neurons at the synapse (junction between the two neurons).

Pillar 4: Accelerating and Preparing for Clinical Trials

Often overlooked but wildly important! These are the actions that allow all of the work from Pillars 1 through 3 to reach individuals living with Angelman syndrome to ensure transformative therapeutics are advanced.

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.
ASO
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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.
UC Davis
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Segal David

David Segal Ph.D.

Position: Professor
 

UC Davis Genome Center, Department of Biochemistry and Molecular Medicine, Pharmacology,
MIND Institute,
UC Davis School of Medicine
Visit Website
Specialty: Genomic therapeutics

David Segal Ph.D.

Professor
 
j silverman

Jill L Silverman Ph.D.

Position: Professor
MIND Institute and Department of Psychiatry and Behavioral Sciences
Director, MIND Institute IDDRC Mouse Behavior Core
University of California Davis School of Medicine
4625 2nd Avenue, Suite 1001 B
Sacramento, CA 95817
Phone: 916-734-8531

Jill L Silverman Ph.D.

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.
Impact
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FAST Funded Research

Emergency Care Consortium | $383,163
Description:

The Emergency Care Consortium will provide a global emergency and urgent care hotline. The hotline will be free of charge, available 24-hours a day and seven days a week, and will enable provider-to-provider consultations to manage urgent issues with the appropriate standards directly related to Angelman syndrome, especially seizures. More than 90% of individuals with Angelman syndrome experience seizures which are often difficult to control with traditional seizure medications. The Emergency Care Consortium will be available for provider-to-provider use in July 2021, with clinical experts that truly understand the nuances unique to Angelman syndrome.

Year:
2021-2023
Principal Investigator:
Dr. Jessica Duis, Dr. Srishti Nanjia, Dr. Elizabeth Berry-Kravis
Grant #:
FT2021-003
Isogenically Controlled Human Cell Lines Targeting Aberrant Imprinting Genotypes | $173,139
Description:

Dr. Keung and his team at North Carolina State University will provide the Angelman syndrome research community a set of cell lines that can be used to efficiently model the biology of ICD and UPD, as well as organoids that model the mosaic genotype. This will aim to help understand any potential impact of gene overexpression in these different genotypes.

Year:
2021-2023
Principal Investigator:
Dr. Albert J. Keung
Grant #:
FT2021-002
Development of microRNA AAV Vectors to Improve Angelman Syndrome | $573,992
Description:

This grant focuses on the development of a microRNA approach as a potential therapeutic for the treatment of Angelman syndrome.  In collaboration with the Gene Therapy Program at the University of Pennsylvania, the latest research plan will build on the milestones already achieved with CRISPR-Cas9/sgRNA interference of the UBE3A-antisense transcript (UBE3A-AS) to develop a novel strategy to suppress UBE3A-AS extension utilizing microRNAs as a potential one-and-done treatment option. 

Year:
2021-2022
Principal Investigator:
Dr. Jim Wilson
Grant #:
FT2021-001
FAST Pipeline Graphic Update 0517200 Complete 02
FAST Pipeline Graphic Update 0517200 Complete 02

Helpful Resources

can3.1.21
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!
can3.1.21
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!
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.
All conditions of Angelman syndrome involve a disruption to the UBE3A gene on the maternal 15th chromosome. FAST is aggressively pursuing therapeutic strategies for all genotypes.