Angelman syndrome due to paternal uniparental disomy of chromosome 15

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Synonyms: UPD(15)pat

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Angelman syndrome due to paternal uniparental disomy of chromosome 15?

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Advocacy Organizations

Foundation for Angelman Syndrome Therapeutics (FAST)

FAST is the leading patient advocacy organization working to cure Angelman syndrome. As the largest non-governmental funder of Angelman syndrome research in the world, our goal is to drive forward transformative research and development programs as quickly as possible for those living with Angelman syndrome — regardless of age or genotype.

Foundation for Angelman Syndrome Therapeutics Australia

Ddedicated to assisting individuals living with Angelman syndrome to realise their full potential and quality of life through funding research, education, and advocacy. Our focus is treatments that will improve the symptoms of Angelman syndrome and ultimately research that will provide a cure.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.