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Career Development Awards Expand the Next Wave of Angelman Syndrome Research

FAST is partnering with the American Society of Gene & Cell Therapy (ASGCT), a global leader in cell and gene therapy, to support early-career scientists working on Angelman syndrome through ASGCT’s Career Development Awards.

This year, three Career Development Awards were selected for Angelman syndrome projects: two supported by FAST and one funded directly by ASGCT.

Why these awards matter for Angelman syndrome

Effective therapies for Angelman syndrome need to reach the central nervous system, which creates distinct scientific and delivery challenges. Career Development Awards bring new investigators into this work and fund early-stage studies that can test novel approaches and generate the evidence needed to move the most promising strategies forward.

These awards support work that can:

  • generate data that de-risks future development,

  • test targeted approaches with clear translational intent, and

  • build methods or tools that make next steps more achievable.

These three Angelman syndrome-focused projects align with FAST’s Pillar 2 strategy: approaches designed to restore UBE3A activity in the brain by activating the normally silent paternal copy. Together, they span a precision gene-editing approach, a next-generation oligonucleotide approach, and a delivery strategy aimed at making administration more practical over time.

2026 Angelman syndrome-focused Career Development Awards

Marco Carpenter, PhD | Children’s Hospital of Philadelphia

Project: Development of an mRNA-LNP base editing strategy to activate UBE3A expression in neurons (FAST-supported)

Base editing is a precision gene-editing approach to make targeted, lasting changes to DNA. This project explores using base editing to disrupt Ube3a-ATS, a mechanism that keeps UBE3A turned off in neurons, with the goal of increasing Ube3a expression in the brain. To deliver the editing instructions to the cells, the system would be packaged as temporary mRNA inside lipid nanoparticles (LNPs). LNPs have been used successfully in the delivery of mRNA and can be targeted to different organs in the body by modifying their chemical composition.

Why this approach is promising

Dr. Carpenter has successfully performed base-editing and LNP screens for other rare diseases, including muscular atrophy (SMA) and alpha-Thalassemia.

If successful, this work could generate early evidence on whether an mRNA-LNP editing approach could be a viable path for Ube3a restoration in the brain as a one-time treatment.

Mark Deehan, PhD | Massachusetts General Hospital

Project: Neonatal Silencing of Ube3a-ATS to Restore Paternal UBE3A Expression Using a Novel Divalent siRNA in Human Induced Pluripotent Stem Cell Derived Neurons and a Mouse Model of Angelman Syndrome (FAST-supported)

This project will test an innovative approach using a technology called divalent small interfering RNA (di-siRNA), small chemically modified pieces of RNA that could bind to and degrade Ube3a-ATS, increasing paternal Ube3a expression in the brain. Candidate di-siRNAs will be designed and evaluated first in human neurons derived from induced pluripotent stem cells from Angelman syndrome patients and, if promising, testing in an Angelman Syndrome mouse model to identify a lead for further development.

Why this approach is promising

Dr. Deehan brings experience using di-siRNA for gene silencing and has a long-standing collaboration with Dr. Neal Aronin and Dr. Anastasia Khvorova, who originally developed the di-siRNA technology at the UMass Medical School RNA Therapeutics Institute.

Di-siRNAs have the potential to outperform antisense oligonucleotides (ASOs) by silencing Ube3a-ATS more effectively and for longer periods of time, potentially reducing the frequency of dosing and reaching more of the brain.

Xiaona Lu, MD, PhD | Yale University School of Medicine

Project: Systemic Delivery of Antisense Oligonucleotides to the Brain via Antibody-mediated Blood-Brain Barrier Modulation for Angelman Syndrome (ASGCT-supported)

This project explores a potential technique for antisense oligonucleotides (ASOs) to be delivered to the brain through standard intravenous (IV) injection instead of intrathecal injection, by temporarily relaxing the blood-brain barrier using an antibody-based approach. This work will evaluate whether this strategy is an effective mechanism for ASO exposure in the brain in preclinical testing in a mouse model.

Why this approach is promising

Dr. Lu has significant experience with Angelman syndrome, working with her mentor Dr. Yong-Hui Jiang on Angelman syndrome mouse models and a separate NIH grant on CRISPR.

This could make dosing for ASOs for individuals living with Angelman syndrome and their families much easier, reducing the need for anesthesia and potentially enabling people to someday receive the treatment outside of a hospital.

How these projects build momentum

Momentum in Angelman syndrome research is built through evidence: results that clarify what works, what does not, and what should come next. This year’s Angelman syndrome-focused Career Development Awards are a practical investment in that foundation, and FAST is committed to supporting this work through our partnership with ASGCT.

If you would like to bring more top scientific talent into Angelman syndrome research and support the work that follows, consider making a donation to FAST. Your support helps fund early-stage projects that can shape what becomes possible next.

Disclaimer

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