The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome
Affiliation:
1. Jessica Duis, Children's Hospital Colorado
Abstract
Abstract
Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.
Publisher
American Association on Intellectual and Developmental Disabilities (AAIDD)
Subject
Psychiatry and Mental health,Neurology (clinical),Arts and Humanities (miscellaneous),Developmental and Educational Psychology,Neuropsychology and Physiological Psychology,General Medicine,Pediatrics, Perinatology and Child Health
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