Introduction and Therapeutics in Angelman Syndrome

Quick Overview

This summary discusses the introduction and therapeutics in Angelman Syndrome. It provides an overview of the genetics and how therapeutics are being developed. The summary also mentions the potential for reactivating the silent copy of the UBE3A gene and targeting proteins that UBE3A interacts with. It highlights the progress that has been made in the field and the importance of continued research and funding.


Good morning! Thank you for joining us at the 2015 FAST Science Summit. We have an exciting lineup of speakers today who will be sharing valuable information about Angelman Syndrome and the latest research and therapies. Before we dive into the presentations, I would like to provide a brief introduction to the genetics and therapeutics of Angelman Syndrome.

If you have any questions during the summit, please feel free to send them through our Facebook page or tweet them to us. We will do our best to address them during the event.

History of Angelman Syndrome

Angelman Syndrome was first described by Dr. Harry Angelman 50 years ago. He noticed three children with similar unique characteristics and named them “puppet children” after a drawing he saw. However, we now refer to the syndrome as Angelman Syndrome in honor of Dr. Angelman.

In 1987, it was discovered that children with Angelman Syndrome had small deletions on chromosome 15. This led to the identification of the UBE3A gene as the causative gene in Angelman Syndrome in 1997.

Genetics of Angelman Syndrome

To understand how Angelman Syndrome manifests, it is important to understand the genetics involved. We all have 23 pairs of chromosomes, and in Angelman Syndrome, we focus on chromosome 15. We inherit one set of chromosome 15 from our mother and one set from our father. The cells in our body can differentiate between the maternal and paternal copies of genes through a process called methylation.

In Angelman Syndrome, the maternal copy of the UBE3A gene is missing or inactive, while the paternal copy is silenced. This is due to differences in methylation patterns. In neurons affected by Angelman Syndrome, the maternal copy is absent, and the paternal copy is expressed as an antisense transcript, preventing UBE3A expression. It is important to note that all other cells in the body still have both copies of the UBE3A gene.

Function of UBE3A

UBE3A is part of a protein complex that functions as a machine in our cells. Its role is to attach a modification called ubiquitin to other proteins, marking them for recycling by the proteasome. Without UBE3A, proteins that should be labeled for recycling are not, leading to potential buildup and interference with optimal neuron functioning.

Therapeutic Approaches

There are several approaches to finding therapeutics for Angelman Syndrome. One approach is to reactivate the silent copy of UBE3A in neurons. This can be done through chemicals, antisense oligos, or engineered proteins. Another approach is to target proteins that UBE3A interacts with and modify their activities. This can involve finding existing drugs that can modify these proteins or stabilizing the small amount of UBE3A expressed in Angelman Syndrome neurons.

Current Therapeutics

While we continue to search for better therapeutics, it is important to note that there are already existing treatments for Angelman Syndrome. These include anti-epileptic medication, the ketogenic diet, low glycemic index treatment, behavioral therapies, and medications for sleep issues. Additionally, communication has improved with the use of devices like iPads.


The research and understanding of Angelman Syndrome have progressed rapidly in recent years. We have seen promising results in mouse models and have identified potential therapeutic targets. With continued support and funding, we can accelerate the development of effective treatments for Angelman Syndrome.

Thank you for joining us today, and we hope you find the presentations informative and inspiring.

Talk details

  • Title: Introduction and Therapeutics in Angelman Syndrome
  • Author(s): Becky Burdine
  • Author(s)’ affiliation: FAST
  • Publication date: 2015-12-04
  • Collection: 2015 FAST Science Summit