articles and announcements

ASF Invests $1.25 Million in Research

June 18, 2013

ASF Invests $1.25 Million in Research

Angelman Syndrome Foundation Invests $1.25 Million in Research

The Angelman Syndrome Foundation (ASF) announced today that because of the generosity of its supporters the organization has awarded $1.25 million to six research grants focused on finding treatments and defining the optimal window for treatment for individuals with Angelman syndrome, a neurodevelopmental disorder which can be similar to autism.  ASF leadership approved $250,000 more than the original $1 million call for research proposals earlier this year due to the nature of the research studies and their potential impact on all ongoing Angelman syndrome, autism and other developmental disorder-related research.

“Angelman syndrome research continues to edge closer and closer to potential life-changing treatments and opportunities for individuals with Angelman syndrome, and it is because of the tremendous support of our community that the ASF is able to invest in these important research endeavors that are quintessential to the success of all future AS preclinical and clinical trials,” said Tim McCarty, president of the ASF board of directors.  “The ASF’s Scientific Advisory Committee and leadership team have evaluated these research projects thoroughly and are confident in the direction they advance Angelman syndrome research, while also furthering the advancement of related neurodevelopmental disorders including autism.  Families, friends, loved ones and others close to individuals with Angelman syndrome who have supported the ASF during our National Walk and other times of the year have made this research investment possible.”

In evaluating this year’s research proposals, the ASF Board of Directors and Scientific Advisory Committee focused on proposals that sought to discover new therapeutics for Angelman syndrome or to better understand the scientific complexities of Angelman syndrome.  This year’s Angelman syndrome research grants are significant as they seek to further define the optimal age at which to administer treatment, or the treatment window, and they further test an already FDA-approved drug as being a viable overall treatment for Angelman syndrome.

The breadth and depth of ongoing Angelman syndrome research, which is leading closer towards a cure, makes available the opportunity for this year’s funded research projects to also further the understanding of varying UBE3A gene mutations and deletions, the causative gene in Angelman syndrome.  Additionally, this year’s funded research seeks to further understand learning and memory deficits in individuals with Angelman syndrome and how they impact individuals genetically and behaviorally.

“Not all individuals with Angelman syndrome have the same genetic blueprint that causes the symptoms of Angelman syndrome, which is also why our leadership team believed that each of these research projects is important,” said Eileen Braun, executive director of the ASF.  “We want to more fully understand and be able to treat what is causing the symptoms of Angelman syndrome in each individual and help improve his or her quality of life.  The strides that research in recent years has made sets an excellent stage to build upon and we are optimistic about the direction of this year’s funded research and the further building blocks it will create.”

Research grants were awarded to:

  • Ben Philpot, Ph.D. of University of North Carolina–Chapel Hill, and Ype Elgersma, Ph.D. of Erasmus Medical Center, Rotterdam, Netherlands
  • Arthur Beaudet, M.D. and Linyan Meng, Ph.D. of Baylor College of Medicine, Houston, Texas
  • John Lisman, Ph.D. of Brandeis University, Boston, Mass.
  • Jason Shepherd, Ph.D. of University of Utah, Salt Lake City, UT
  • Craig Erickson, M.D., of Cincinnati Children’s Hospital Medical Center
  • Mark Zylka, Ph.D. of University of North Carolina–Chapel Hill


The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties.  As the largest non-governmental funder of Angelman syndrome research, the ASF sponsors Angelman syndrome research through grants to researchers pursuing promising avenues of discovery.  Since 1996, the ASF has funded 72 research grants totaling more than $5.8 million.  The ASF has awarded a majority of these funds ($5.5 million) beginning in 2005.