“Of all the childhood genetic neurologic disorders of the brain, Angelman syndrome may be the single best candidate for developing a definitive treatment (aka a cure).”~Dr. Arthur Beaudet
The Foundation for Angelman Syndrome Therapeutics (FAST) US and FAST AU are excited to announce joint funding to Dr. Beaudet to generate mouse lines expressing human UBE3A Antisense (ATS). Dr. Art Beaudet is the Henry and Emma Meyer Chair and a Professor of Molecular and Human Genetics at Baylor College of Medicine, Dr. Beaudet has been involved in Angelman syndrome (AS) research for many years and was responsible for identifying the UBE3A gene in 1997. He was the first to develop an animal model for AS. He has focused much of his career on Angelman syndrome research, specifically the Ube3a-ATS transcript and animal model creation. Dr. Beaudet believes passionately in a definitive treatment for this disorder.
To further the potential therapeutic options for turning on the paternal allele, as with Antisense Oligonucleotides (ASOs) or Artificial Transcription factors (ATF’s or Zinc Fingers), knowing the exact genetic makeup of the human antisense transcript is very important. Choosing the best therapeutic candidate can be optimized by creating a “humanized mouse” that shows expression of the human antisense transcript in mouse neurons. This model would assist in finding the appropriate human protein (ATF), or small molecule (ASO), that could turn on the paternal copy of the UBE3A gene, narrowing down candidates that could be used in human clinical trials.
Dr. Art Beaudet was recently granted nearly $28 million by the National Institutes of Health to create knock-out mouse models for every gene in the human genome, a testament to his expertise in animal models. The additional funding by FAST will specifically focus on Angelman syndrome in order to expedite the development of human therapeutics for clinical trial evaluation.
FAST US and FAST AU are honored to fund this ground-breaking work by Dr. Beaudet.
To learn more about this work, please watch Dr. Beaudet’s presentation at the 2016 FAST Summit on December 2, 2016.