ASF Honors Award Winners at the 2019 ASF Conference
At the 2019 ASF Scientific Symposium and Family Conference in Louisville, KY, the Angelman Syndrome Foundation recognized four people with special awards at the Family Conference Welcome Reception. The board and staff of the Angelman Syndrome Foundation, as well as the entire community of families, teachers and scientists are grateful to these four individuals for their dedication and hard work.
Harry & Audrey Angelman Award for Meritorious Service
Awarded to: Erin Sheldon
Erin Sheldon has dedicated her life to supporting families on their communication journey. She is first and foremost a mother to Maggie. She is an advocate for inclusive schools and communities. She earned her Masters in Education studying the learning needs of students with complex disabilities. Erin has spend many years helping the Angelman Syndrome Foundation support families in their communication journey. The Harry & Audrey Angelman Award for Meritorious Service is given to an individuals who has demonstrated a strong commitment to enhancing the awareness and understanding of Angelman Syndrome in their community. Erin lives this every day by working hard to be an advocate of children and adults with Angelman syndrome, as well as dedicating her life’s work to helping them find their voice!
The Dr. Claudia Benton Award for Scientific Research
Awarded to: Dr. Stormy Chamberlain
Dr. Claudia Benton was passionate about the Angelman syndrome community. She had completed her pediatric neurology fellowship with Dr. Zoghbi and was in the process of her genetics fellowship with Dr. Beaudet when she died in 1998. She was a wonderful, kind, and very dedicated person who loved the kids with Angelman syndrome that she worked with. The Claudia Benton award winner demonstrates a strong commitment to advancing the scientific knowledge as it pertains to Angelman Syndrome. As well as an ongoing commitment to research that improves the understanding or treatment of Angelman Syndrome. There is no one who is more deserving of this award than this year’s winner, Stormy Chamberlin. Stormy Chamberlain is a widely published, 10-year researcher in the field of Angelman syndrome and UBE3A, who has given more than 30 talks and lectures about a variety of related topics. Dr. Chamberlain established her own lab at UConn in 2009, using induced pluripotent stem cells (iPSC) to model and study human imprinting disorders, focusing on Angelman syndrome, Prader-Willi syndrome, and Duplication 15q syndrome. She serves on the ASF Board of Directors as well as the Chair for the Scientific Advisory Committee.
“We are so thankful to Stormy for the dedication she displays for our children on a daily basis. Knowing that they’re are individuals out there like Stormy working hard towards a cure for our kids is just the hope we need.” Quote from a parent.
Lifetime Achievement Award
Awarded to: Eileen Braun
Eileen Braun served as the Executive Director of the ASF from 2004 until April 2019. Prior to that, Eileen worked as the special event coordinator for ASF 2001-2003, following her volunteer involvement from 1999-2001.
Some highlights from Eileen’s tenure as Executive Director:
- Started the ASF Walk which, to date, has raised over $16M for research, family support, education and advocacy.
- Prior to her tenure as Executive Director, ASF had invested a total of $275,000 on research. Since that time ASF has funded over $10M in research comprising over 100 individual projects, 61 different researchers, 40 different scientific institutions, and 7 different countries. Additionally, ASF spent about $6,000 in family support the year she took the reins and now ASF spends over $500,000 annually in support of the Angelman community.
- In 2010 Eileen organized the first AS research road map designed to lay out the plan to organize research investment that would impact the clinical care of individuals with AS and, eventually, lead to a cure.
- ASF developed and maintains the single largest AS registry in the world, including over 4,000 individuals with AS from all 50 states and over 80 countries around the world.
- ASF developed a network of 8 US based clinics and 4 international clinics that specialize in the treatment for individuals with AS and are not serving as the hub for clinical research for AS related treatments.
- During Eileen’s tenure, the ASF developed the ASF Resource Team, Communication Training Series, and the AS Behavioral Training Series.
- ASF has hosted 8 family conferences and 11 scientific symposia.
Eileen dedicated her professional career to the cause of Angelman syndrome and there is nothing in the community without her fingerprints on it. Eileen was awarded the last ASF Lifetime Achievement Award and, the Board announced the creation of the Eileen Braun Lifetime Achievement Award.
Eileen Braun Lifetime Achievement Award
Awarded to: Dr. Art Beaudet
Dr. Beaudet received his M.D. from Yale, did pediatric residency at Johns Hopkins, and was a research associate at the National Institute of Health before joining Baylor College of Medicine (BCM) in 1971. He is a well-known editor of the Metabolic and Molecular Bases of Inherited Disease textbook for the 6th through 8th editions; has served on many editorial boards and national review panels. He was President of the American Society of Human Genetics in 1998 and was elected to the National Academy of Medicine in 1995 and to the National Academy of Sciences in 2011.
Dr. Beaudet has made diverse contributions in the field of mammalian genetics including discovery of uniparental disomy in humans, identifying the Angelman syndrome gene, and publishing over 300 original research articles. Additionally, related to Angelman syndrome, his lab and another group identified UBE3A as the Angelman gene in 1997, and in 2015, his lab in collaboration with Ionis showed that oligonucleotides could be used to activate the paternal copy of the Angelman gene in mice, possibly opening a path towards treatment of AS.
Dr. Beaudet is currently the Henry and Emma Meyer Distinguished Service Professor in the Department of Molecular and Human Genetics at BCM and Texas Children’s Hospital in Houston.