Crossing the finish line towards a disease-modifying treatment for Angelman syndrome
Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.
Authors
- Mark Nespeca (ORCID: https://orcid.org/0000-0002-8602-7700)
- Benjamin E. Deverman (ORCID: https://orcid.org/0000-0002-6223-9303)
- Martin Scheffner (ORCID: https://orcid.org/0000-0003-2229-0128)
- Steven A. Kushner (ORCID: https://orcid.org/0000-0002-9777-3338)
- Rebecca D. Burdine (ORCID: https://orcid.org/0000-0001-6620-5015)
- Ype Elgersma
- Luis Pereira de Almeida
- Ben Distel
- Jason J. Yi
- Elizabeth Jalazo
- Michael D. Ehlers
- Stephan J. Sanders
- Stormy J. Chamberlain
- Benjamin D. Philpot
- Matthew C. Judson
Institutions
- Broad Institute (US)
- University of North Carolina at Chapel Hill (US)
- Roche (Switzerland) (CH)
- University of California, San Francisco (US)
- University of Konstanz (DE)
- Princeton University (US)
- Washington University in St. Louis (US)
- Columbia University Irving Medical Center (US)
- Erasmus MC (NL)
- University of Oxford (GB)
- Rady Children's Hospital-San Diego (US)
- Baim Institute for Clinical Research (US)
- University of Coimbra (PT)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2026-03-07
- DOI
- https://doi.org/10.1186/s11689-026-09681-5
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00