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Get To Know the Angelman Syndrome Foundation



About Angelman Syndrome (AS)

Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother. Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis occurs often. People with AS have developmental problems that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. An individual with AS will light up a room with their smile and laughter.


Angelman Syndrome Clinical Features

People with AS have developmental problems that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. An individual with AS will light up a room with their smile and laughter.


Get to Know the Angelman Syndrome Foundation

The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.


I am especially proud of ...

I am extremely proud of our partnership this year with Dup15q Alliance to expand our clinical research network from 8 clinics to 18.


Excited to REN because...

We are excited to work collaboratively with other REN advocates in order to leverage our collective voices in order to improve outcomes for rare epilepsy patients. We are especially interested in projects that work to improve preparation for and the quality of clinical trials for rare epilepsies through collaborations with diverse stakeholders. We are excited about REN’s ability to help the rare epilepsy world tackle complex problems that we cannot solve alone!



My journey and motivation...


One child brought me into this space, but all the incredible children and families I have met along the way and those still yet to come keep me here.


By Amanda Moore, CEO, Angelman Syndrome Foundation



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