Creating new opportunities, insight & understanding.
Parents and caregivers are driving the collection of data by contributing to the largest dataset on Angelman syndrome by entering details of their loved one/s diagnosis, medical history, development and more in a series of online modules. The Global Angelman Syndrome Registry is a tool for understanding developmental progress, medication and seizure management, but more importantly, it provides an invaluable resource to advance the search for therapeutics.
Accelerating precision therapies through digital infrastructure for adaptive trials and trial-ready cohort studies
The Benefits of an Open-Source Registry for Rare Diseases
Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
Caregivers Report on the Pathway to a Formal Diagnosis of Angelman Syndrome: A Comparison Across Genetic Etiologies within the Global Angelman Syndrome Registry