The history of
angelman Syndrome & ASF
Angelman syndrome was first identified by Dr. Harry Angelman, an English physician at Warrington General Hospital, in 1965. Since that time, we have built a strong community, invested in research and have enhanced therapeutics.
Discovery of AS
In December of 1965, Dr. Harry Angelman, an English physician at Warrington General Hospital, published a research paper that first described children with characteristics of Angelman syndrome.
AS Diagnoses
Dr. Charles Williams and Dr. Jaime Frias of the University of Florida College of Medicine saw their first patients whom they believed had “Happy Puppet Syndrome” (now known as Angelman syndrome) based on Dr. Angelman’s past observations.
Genetic Marker Identified
Ellen Magenis, physician at the Oregon Health Science Center, discovered a genetic “marker” for AS – a missing genetic code on a tiny portion of chromosome 15.
First Major Gift
Former Major League Baseball pitcher, Bryan Harvey, donated $20,000 to the ASF for AS research and family support. Bryan’s donation and news of his daughter’s Angelman syndrome diagnosis helped spread awareness and in turn, other families were able to receive diagnoses.
ASF Incorporated
On January 6, 1992 the ASF was officially incorporated. This marks the start of our commitment to research to discover AS treatments and a cure, while supporting those impacted by Angelman syndrome.
First ASF Conference
On August 5, 1993 the ASF hosts its first official Family Conference as an incorporated organization, with hundreds of families attending.
The Bradleys and the Angelmans at the 1993 ASF Conference in Orlando, FL.
First Research Grant
The ASF formed its Scientific Advisory Committee, awarding ASF’s first-ever research grant to Dr. Joseph E. Wagstaff to investigate disturbed sleep patterns. This was the first clinical trial in Angelman syndrome research, using melatonin for sleep disturbances.
Dr. Joseph Wagstaff
Mutations Discovered
Dr. Arthur Beaudet discovered mutations in the UBE3A gene as the cause of AS. This discovery quickly led to the development of animal models and active neuroscience research aimed at discovering how abnormalities of UBE3A cause impairment in neural development.
First Scientific Symposium
On July 22, 1997, the ASF holds the first Scientific Symposium in conjunction with the 1997 Family Conference in Seattle, Washington. This two-day symposium is a chance for leading researchers, scientists and doctors to discuss the latest research activities in the world of AS.
In 2008, the Scientific Symposium became an annual event.
In 2008, the Scientific Symposium became an annual event.
Inaugural Walk
On May 22, 1999 the Inaugural “Walkathon” was held in Naperville, IL and raised $25, $26,000. The ASF Walk grew quickly to 10 locations and in 2024 had close to 50 locations.
In 2025, the event was renamed to Angelman Strong.
In 2025, the event was renamed to Angelman Strong.
From the 1999 event
Harry & Audrey Angelman Award
October 2, 1999: The first Harry and Audrey Angelman Award for Outreach and Education was announced by the ASF, honoring the Angelmans for their immense contributions to our community.
Claudia Benton Research Award
The Claudia Benton Award for Research was announced by the ASF to honor of Claudia Benton, who passed away in 1998. The award recognizes those with a strong commitment to advancing the scientific knowledge and understanding of AS or makes a significant impact on the lives of individuals with AS through research.
$1 Million in Research
The ASF funded more than $1 million in research in one year for the first time. More than $1 million in grants were awarded to six principle investigators focusing on AS research.
Ben Philpot, PhD – University of North Carolina Chapel Hill
John Marshall, PhD – Brown University
Eric Klann, PhD – New York University
Peter Howley, MD – Harvard Medical School
Yong-Jui Jiang, MD, PhD – Duke University
Scott Dindot, PhD – Texas A&M University
Ben Philpot, PhD – University of North Carolina Chapel Hill
John Marshall, PhD – Brown University
Eric Klann, PhD – New York University
Peter Howley, MD – Harvard Medical School
Yong-Jui Jiang, MD, PhD – Duke University
Scott Dindot, PhD – Texas A&M University
Clinical Trials Act
September 9, 2010: Due in part to the ASF’s advocacy, the U.S. House of Representatives passed the Improving Clinical Trials Act, which enables individuals with rare diseases to participate in clinical trials while remaining eligible for healthcare benefits.
Before this enactment, people with rare diseases such as AS had to choose between healthcare coverage and clinical trial participation.
Before this enactment, people with rare diseases such as AS had to choose between healthcare coverage and clinical trial participation.
Paternal UBE3A Activated
April 29, 2011: Dr. Ben Philpot proved the paternal copy of Ube3a can be activated, a huge breakthrough in AS research.
As discovered by Dr. Art Beaudet in 1996, AS is caused by a deficiency of UBE3A, so Dr. Philpot’s finding was a very significant and promising step towards better treatments and a cure.
As discovered by Dr. Art Beaudet in 1996, AS is caused by a deficiency of UBE3A, so Dr. Philpot’s finding was a very significant and promising step towards better treatments and a cure.
AS Clinics Established
April 2, 2012: The first two AS clinics opened in 2012. At the clinics, all of the unique needs of individuals with AS can be addressed under one roof, something that the AS community has never had before.
LGIT Study Published
The results of a 2007 ASF-funded research study lead by Dr. Ron Thibert at Massachusetts General Hospital were published in Epilepsia on July 10, 2012. The clinical study concluded that the Low-Glycemic Index Treatment (LGIT) decreased seizures by 80% in Individuals with AS.
Dr. Ron Thibert
International Angelman Day
January 15, 2013: International Angelman Day was celebrated for the first time to help raise awareness for AS across the world. That year alone, ASF Facebook posts were shared more than 1,000 times, introducing AS to thousands of people for the very first time.
ASF funded research reached $5 million invested
In 2013, the ASF committed over $200,000 to fund Angelman Syndrome research putting the cumulative amount invested to over $5 million!
ASO’s Activate Paternal UBE3A
November 2, 2014: Dr. Art Beaudet builds on Dr. Philpot’s paternal Ube3a activation discovery, using antisense oligonucleotides (ASO) to activate paternal Ube3a. This successful research moved us even closer to a therapeutic.
Biomarker Identified for Clinical Trials
ASF-funded research, published in the Journal of Neurodevelopmental Disorders, identified that delta—a frequency of brain rhythms identifiable by EEG scans—can serve as a reliable biomarker for pre-clinical and clinical trials in Angelman syndrome, one of the first biomarkers to be established in AS research.
Biomarkers play a critical role in determining whether a potential therapeutic is effective, and this study gave the AS research community a viable tool to measure success of many trials!
Biomarkers play a critical role in determining whether a potential therapeutic is effective, and this study gave the AS research community a viable tool to measure success of many trials!
ASF Family Fund
July 16, 2019: The ASF Family Fund was created. This allows families to apply for funds to gain access to resources needed to improve the quality of life for an individual with Angelman Syndrome. Applications for funding are open twice a year in October and April.
ASF and Dup15q Alliance combine networks
The Angelman Syndrome Foundation and Dup15q Alliance combined their respective clinical networks to form, what is now called the LADDER Learning Network in efforts to help those living with 15q syndromes and make clinics accessible to more people.
Linking Angelman and Dup15q Data for Expanded Research (LADDER)
A collaborative project funded by the ASF and the Dup15q Alliance was announced. RTI International (RTI), a nonprofit research institute created and hosts a network platform, that will offer caregivers access to information about a larger population of patients living with Angelman or Dup15 syndromes to better inform their decisions regarding treatments and interventions. Data analysis and discovery will also help researchers target therapies and advance clinical trials more quickly and efficiently.
ASF Canada
April 2023: The Canadian Angelman Syndrome Society became ASF Canada. The two organizations have operated independently with similar missions. This collaboration will strengthen family support throughout North America.
Inaugural AS Congressional Advocacy Day
Members of the Angelman community met in Washington DC for two days of training and meeting with members of congress. Hosted by ASF and FAST, this inaugural event was very successful.