Angelman Syndrome Research

Research

Research is key to improving the lives of individuals with Angelman syndrome and to finding a cure. In recent years, there have been critical discoveries that have greatly improved our understanding of Angelman syndrome and lead to critical discoveries, clinical trials and increased funding by the NIH.

Dr. Ben Philpot’ study on toposiomerese inhibitors

Dr. Art Beaudet’s studies on antisense oligonucleotide or ASOs

Dr. Stormy Chamberlain’s study of ASO’s on human stem cells

Dr. Mark Zylka’s CRISPR/Cas9 lead to $2.8 million invested by the NIH.

How Close is a Cure for Angelman Syndrome?

Angelman syndrome is caused by an issue with the maternal copy of the UBE3A gene. It just so happens, humans have a second copy of the UBE3A gene from their father, that is able to be activated.  There are still unanswered questions, but continued research on the gene helps to answer those questions.  Watch Dr. Art Beaudet discuss the potential for a cure for Angelman syndrome.

Funded Research

The ASF is and has always been committed to funding research that has the most potential to impact the lives of those with AS. Visit ASF Funded Research for more information about research projects funded by the ASF and the Research Funding Philosophy to find out how our Scientific Advisory Committee prioritizes studies to fund.

Published Research on Angelman Syndrome

The United States National Library of Medicine at the National Institutes of Health maintains a database of completed research on life sciences and biomedical topics. Here you can find links to full text articles of all published research that has been completed on Angelman syndrome.