The Angelman Syndrome Foundation (ASF) recently honored four individuals for their exceptional contributions to the Angelman syndrome community and to advancing research.

Awards were presented to a special education specialist, researcher, former executive director of the foundation, and geneticist, during the 2019 ASF Scientific Symposium and Family Conference, an event that brought together families, educators, care providers, physicians, scientists, and other stakeholders to learn and discuss the latest on Angelman syndrome (AS).

Erin Sheldon was given the Harry & Audrey Angelman Award for Meritorious Service, an honor bestowed to those who demonstrate a strong commitment to enhancing disease awareness and understanding in their respective community, the ASF announced.

The mother of a daughter with Angelman, Sheldon has long supported AS families, advocating for inclusive schools and communities. Angelman is a complex neurological disorder that causes intellectual disabilities and issues with speech, among other symptoms. For her masters degree in education, Sheldon focused on the learning needs of students with complex disabilities.

The Dr. Claudia Benton Award for Scientific Research was presented to Stormy Chamberlain, PhD, a widely published researcher in AS and UBE3A, the protein coding gene associated with Angelman. She is an ASF board member who has made many presentations on the topic.

Chamberlain established a lab at the University of Connecticut, where shes an assistant professor in the genetics and developmental biology department, and assistant director of the graduate program in genetics and developmental biology. In her research, sheused induced pluripotent stem cells (IPSCs) to model and study genetic imprinting implicated in Angelman and other disorders.

Of note, IPSCs are derived from either skin or blood cells that have been reprogrammed back into a stem cell-like state, which allows for the development of an unlimited source of any type of human cell thats needed for therapeutic purposes. Genetic imprinting is a phenomenon that occurs when only one of the two copies of a given gene (one copy is inherited from each parent) is turned on, depending on the parent it originated from.

Receiving the ASFs Lifetime Achievement Award was Eileen Braun, who had been the foundations executive director from 2004 until this past spring. This award has now been renamed in her honor. The graduate of the Mayo Clinic School of Health Sciences, Braun has worked as a registered respiratory therapist at several medical centers, including the Mayo Clinic. She has four children, one of whom has Angelman, and currently serves as the ASFs director of operations.

During her time as ASF executive director, Braun started the ASF Walk fundraiser and organized the foundations first research roadmap (a plan that prioritized research investment toward improved patient care), and boosted research investment from $275,000 to more than $10 million. Braun also oversaw development of 12 international AS clinics and the worlds largest AS registry, and hosted 19 conferences and symposiums.

The first Eileen Braun Lifetime Achievement Award was given to Arthur Beaudet, MD, for his decades-long contribution to the fields of mammalian genetics and Angelman. A Yale University graduate and chair of molecular and human genetics at the Baylor College of Medicine, Beaudet and other scientists in 1997 identified the Angelman gene UBE3A. In 2015, his lab collaboratively showed that oligonucleotides could be used to activate the paternal copy of Angelman in mice, a promising step toward AS treatment.

A former National Institutes of Health research associate, Beaudet is a prolific author who served as president of the American Society of Human Genetics, and was elected to the National Academy of Medicine and National Academy of Sciences.

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, the organization said.

The ASF works to advance the awareness and treatment of AS through education, research, and patient and family support. Angelman syndrome occurs in about 1 in 15,000 live births.

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours dElegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled Belle of the Concours.

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Angelman Foundation Honors 4 for Their Research, Advocacy Efforts - Angelman Syndrome News