The University of Chicago Genetic Services provides comprehensive testing for Angelman syndrome.  The Angelman Syndrome Foundation (ASF), celebrating its 20th anniversary this year, is a national 501(c)(3) non-profit organization dedicated to advancing awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. 

Angelman syndrome is one of nearly 7,000 rare disorders. A rare disorder is defined as a disorder that affects less than 200,000 people in the United States. Together, rare disorders affect nearly 30 million people in the United States alone. Angelman syndrome is caused by a disruption in the function of the UBE3A gene on the maternal chromosome 15.

 

 

 

 

 

 

 

 

 

Individuals with Angelman syndrome exhibit:

  • Lack of speech
  • Developmental delay
  • Movement and balance disorder
  • Seizures (80-90%)
  • Typically happy demeanor

 The ASF supports the Angelman syndrome community through:

  • Research grants provided to researchers and institutions dedicated to finding possible treatments and an eventual cure for individuals with Angelman syndrome.
  • Direct support by being the “voice on the other end of the phone”, providing families and other concerned individuals with first-hand information and connecting them with the resources they need.
  • Hosting conferences that allow families and other concerned individuals the opportunity to network with other families, access information first-hand, and learn about the latest developments in Angelman syndrome research.
  • Hosting scientific symposia that allow researchers to connect and share findings on the latest advances in the field of Angelman Syndrome research as they work to find curative therapies for individuals with Angelman syndrome. 

During the past 20 years, the ASF has raised nearly $11 million in support of the Angelman syndrome community.  Half of these funds raised have gone directly into funding research grants, and nearly 35 percent have provided direct support to those affected by Angelman syndrome.  During the past 20 years, the ASF has:

  • Provided information, support and resource connections to more than 250,000 individuals
  • Held more than 157 walks that have been attended by more than 41,000 individuals
  • Amassed an army of more than 7,000 volunteers – averaging to one new volunteer per day during the past 20 years – to help with various events and fundraising efforts

The ASF has a full-time staff of seven individuals that are focused on advancing awareness and fundraising in support of the Angelman syndrome community. Through the help of its volunteers, the ASF hosts walks on the third Saturday in May of every year in cities around the country. For our 20th anniversary year, there will be 30 walk sites around the country for individuals to come out and support the ASF and individuals with Angelman syndrome. 

Find out more and become involved!

To find out more information about Angelman syndrome, the Angelman Syndrome Foundation and how you can become involved and help, visit www.angelman.org or contact us directly at 800-432-6435. We want to hear from you and we are here to help!