ASF Research Updates

Quick Overview

ASF Research Updates: Dr. Stormy Chamberlain discusses the latest research funded by the Angelman Syndrome Foundation (ASF). The research aims to improve the lives of individuals with Angelman Syndrome (AS) by understanding the UBE3A gene, developing therapeutic treatments, and improving quality of life. The research includes studies on gene therapy, activation strategies, clinical trials, neuron dysfunction, and communication. The goal is to find effective treatments and potentially a cure for AS. The research is ongoing, and while there is no magic age for treatment, early intervention is believed to have the most benefit. The ASF also supports the 15q Clinic Network and the LADDER database to provide expert care and collect valuable research data.

Good evening, everyone. We are so happy to have you back for the fourth night of the Angelman Syndrome Foundation Virtualpalooza. You are in for a treat tonight.

Angelman Syndrome Virtual Walk

Before we get into the updates, I want to thank everyone who has already signed up for our Angelman Syndrome Virtual Walk. It’s not too late to sign up and support the Foundation.

Upcoming Sessions

Tomorrow night, we will continue our Virtualpalooza with Dr. Becky Burdine who will be talking about genetics and other topics related to Angelman Syndrome. We will also have a session on puberty in Angelman Syndrome individuals next week.

Introduction to Dr. Stormy Chamberlain

Now, let’s jump into the research updates. I am honored to introduce you to Dr. Stormy Chamberlain, a pioneer and champion for individuals with Angelman Syndrome. She has been working in the field for many years and has dedicated her research to finding therapeutic treatments for Angelman Syndrome. Dr. Chamberlain has also served as the scientific advisory chair for our foundation and as a board member.

Research Goals

The research goal at ASF is to improve the lives of individuals with Angelman Syndrome. We fund studies to better understand UBE3A, the gene associated with Angelman Syndrome. We also fund high-risk, high-reward studies to find therapeutics and clinical studies to improve the quality of life for individuals with Angelman Syndrome. Our ultimate aim is to find treatments and a cure for Angelman Syndrome.

Funding Research

ASF funds research by granting seed funding to generate preliminary data. Promising studies that generate good data can then be further funded by larger organizations with deeper pockets. We require peer review of our grants and have a Scientific Advisory Committee comprised of scientists, clinicians, and parents who review and recommend funding for research proposals.

Specific Research Topics

ASF has funded various research topics over the past few years. Some of these include:

1. Development of a newborn screen for Angelman Syndrome, Prader-Willi Syndrome, and Dup15q Syndrome.
2. Understanding how different mutations in UBE3A cause Angelman Syndrome.
3. Determining the three-dimensional structure of UBE3A and its interaction with other proteins.
4. Studying the location of UBE3A in cells and brain regions.
5. Investigating the effects of too much UBE3A in individuals with Dup15q Syndrome.
6. Exploring gene therapy, activation strategies, and symptomatic treatments for Angelman Syndrome.

Clinical Studies

ASF also funds clinical studies to understand the disorder and improve the quality of life for individuals with Angelman Syndrome. These studies focus on areas such as communication, vision impairment, neuron dysfunction, and language development.

Benefits of Angelman Syndrome Clinics

Attending an Angelman Syndrome clinic can provide expert clinical care and connect families with physicians experienced in treating Angelman Syndrome. It also allows families to participate in research studies and contribute to the understanding of the disorder. The clinics are at the forefront of clinical trials and provide valuable resources for families.

Future Directions

As research progresses and potential therapeutics are developed, there will be a need for further studies to understand the long-term effects and optimize treatment strategies. The natural history of Angelman Syndrome will change, and researchers will need to adapt their focus accordingly. The involvement of families in research and clinical trials is crucial for advancing our understanding and improving the lives of individuals with Angelman Syndrome.

In conclusion, the research being conducted by ASF aims to improve the lives of individuals with Angelman Syndrome. The foundation funds a wide range of studies, from basic research to clinical trials, with the ultimate goal of finding treatments and a cure for Angelman Syndrome. The dedication and collaboration of researchers, clinicians, and families are key to achieving this goal.