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Angelman Syndrome


By Amber Schappaugh MA, RMA (AMT), Director of Allied Health, Extern Program Coordinator

Angelman Syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbances, seizures, jerky movements, frequent laughter and smiling, as well as a usually happy demeanor. Our local communities are home to several children who have been diagnosed with Angelman syndrome. My own daughter was diagnosed with Angelman Syndrome at the age of 18 months after being misdiagnosed with SMA (Spinal Muscular Atrophy). Most individuals are misdiagnosed with other conditions as Angelman Syndrome is rare and has only been diagnosed more recently (since the 1980’s).

Angelman Syndrome was first identified in 1965 by Dr. Harry Angelman in the United Kingdom, but remained mostly unstudied until 1987 when it was discovered that deletions on the 15th chromosome were associated with Angelman Syndrome. It, along with Prader-Willi Syndrome, was the first identified imprinting disorder (FAST, 2015). In 1997 the UBE3a gene was identified as the critical gene in Angelman Syndrome. The next year, a mouse model was designed, displaying the dysfunctions of Angelman Syndrome and missing the UBE3a gene (FAST, 2015).

It wasn’t until 2007 that Dr. Edwin Weeber of University of South Florida rescued a mouse model. A newly diagnosed family read the research and founded FAST (Foundation for Angelman Syndrome Therapeutics) in 2008. Paula Evans, Chairperson, of Darien IL has dedicated herself and her foundation to curing Angelman Syndrome for her daughter and all individuals diagnosed with Angelman Syndrome. Since FAST was founded, research has been tremendous: in eight short years, huge strides have been made toward a cure. Three clinical trials, the establishment of the FIRE (FAST Integrative Research Environment), and multiple partnerships with nutrition and pharmaceutical companies have been made. In medical research, this is amazing progress in short time.

Curing Angelman Syndrome has the potential to beneficial for many other diseases and genetic disorders. The gene causing Angelman Syndrome has been correlated to Rhett Syndrome, Fragile X, Autism, and Alzheimer’s disease as well as being one of the few known genetic causes of epilepsy. Research has shown exactly what causes Angelman Syndrome, and it has been cured in a laboratory (FAST, 2015). A cure is absolutely possible in our lifetime, we just need to fund the research. The Foundation for Angelman Syndrome Therapeutics has been doing just that since 2008.

For more information or to donate, visit the website at

Foundation for Angelman Syndrome Therapeutics. (n.d.). Retrieved March 10, 2016, from

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