The History of Angelman Syndrome and the ASF
In Celebration of the Angelman Syndrome Foundation’s 25 Years of Providing Treatments,
Creating Family Support Services and Identifying New Avenues to a Cure
1987: 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.
1991: First Major Gift
Former Major League Baseball pitcher, Bryan Harvey, donated $20,000 to the ASF for AS research and family support.
1992: ASF Incorporated
The ASF was officially incorporated, which was the start of 25 years of commitment to research to discover AS treatments and a cure, and supporting families.
1996: First Clinical Trial
1997: First Scientific Symposium
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.
1999: Harry & Audrey Angelman Award
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.
2000: Website Launch
The ASF launched www.Angelman.org, the first-ever website dedicated completely to AS.
The site provides families with AS education and personal resources, ASF-funded research updates and accomplishments, community and national fundraising events, and more!
2000: Claudia Benton Research Award
The Dr. 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.
2002: Global Awarness
World Congress and Exposition on Disabilities
October 3 – 5, 2002
The ASF exhibited at the World Congress and Exposition on Disabilities, broadening awareness of AS to thousands of attendees.
2007: $1 Million Milestone
The ASF achieved a major milestone in AS research by hitting $1 million invested.
Since 1996, the ASF had been investing more than $10,000 a year in AS research with that amount increasing each year. In 2007, the ASF invested $80,000 in AS research putting the cumulative amount the organization had invested in AS research to over $1 million.
Find out more about ASF Funded research since 1996.
2008: Wagstaff Fellowship
Dr. Joseph E. Wagstaff Postdoctoral Fellowship was established by the ASF in honor of Dr. Wagstaff, who passed away at age 52.
Through this fellowship, the ASF seeks to honor Dr. Wagstaff’s legacy by supporting innovative research initiatives and cultivating brilliant, young researchers in the field of AS research.
2009: $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.
- Benjamin Philpot, PhD – University of North Carolina Chapel Hill
- John Marshall, PhD – Brown University, Providence, RI
- Eric Klann, PhD – New York University
- Peter Howley, MD – Harvard Medical School
- Yong-Jui Jiang, MD, PhD – Duke University, Durham, NC
- Scott Dindot, PhD – Texas A&M University, College Station, TX
2010: Clinical Trials Act
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.
2011: Paternal UBE3A Activated
2012: LGIT Study Published
The results of an ASF-funded clinical 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
2013: International Angelman Day
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.
2013: $5 Million Milestone
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!Read more
2014: ASO’s Activate Paternal UBE3A
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.
2017: 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!
2018: $10 Million Milestone
ASF funded research poised to reach $10 Million invested.
With so many advances being made in Angelman research by talented, dedicated professionals, the ASF is striving to have $10 million invested in AS research during the year 2018.