The project is a feasibility study for the development of a national digital infrastructure to support adaptive clinical trials and ‘trial-ready’ natural history cohort studies
The Foundation for Angelman Syndrome Therapeutics Australia says it has created a Global Angelman Syndrome Registry that gives parents and caregivers the power to drive
M Tones 1, M Cross 2, C Simons 2, K R Napier 3, A Hunter 3, M I Bellgard 4, H Heussler 5 Affiliations 1
M Tones 1, M Cross 2, C Simons 2, K R Napier 3, A Hunter 3, M I Bellgard 4, H Heussler 5 Affiliations 1
Angelman syndrome (AS) and is typically diagnosed in children under the age of three based upon early behavioural concerns identified by parents, or genetic links with other family members. For some families however, the pathway to diagnosis is not so clear, particularly when children demonstrate differential characteristics, commonly seen for those with UBE3A pathogenic variants (ubiquitin protein ligase EA3), imprinting defects or uniparental disomy (patUPD) etiology. The aim of this paper is to explore parent’s experiences of the pathway to diagnosis involving 394 children with formal diagnoses of AS.
For Professionals & Researchers
For Caregivers
The Global Angelman Syndrome Registry is a project designed for individuals diagnosed with Angelman syndrome and those working towards research and treatments.
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