Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. David Segal

Quick Overview

In this episode of Angelman Updates with Dr. Terry Jo Bichell, Dr. David Segal discusses his research on Angelman Syndrome. He explains his work on developing molecular therapies that can turn on the UBE3A gene, which is missing or mutated in individuals with Angelman Syndrome. Dr. Segal discusses the use of CRISPR-Cas13, a gene-editing tool, to target the antisense transcript that interferes with UBE3A expression. He shares that his team has been testing this approach in mouse models of Angelman Syndrome and has seen promising results in turning on UBE3A in the brain. Dr. Segal also discusses the infrastructure project funded by FAST, which aims to evaluate potential drugs for Angelman Syndrome and provide a consistent and cost-effective approach to drug development. He emphasizes the collaborative nature of the project and the importance of working with pharmaceutical companies and other researchers to advance treatments for Angelman Syndrome. Dr. Segal concludes by expressing his commitment to the Angelman community and his hope to continue serving them until effective therapies are developed.

Introduction

In this episode of Angelman Updates, Dr. Terry Jo Bichell interviews Dr. David Segal, a renowned scientist in the field of Angelman Syndrome research. Dr. Segal shares his journey in the field and discusses his current research on developing therapeutics for Angelman Syndrome.

Background and Early Research

Dr. Segal recounts how he first became involved in Angelman Syndrome research after being contacted by a group of scientists and concerned parents. He joined the FIRE team, a group of scientists dedicated to working on Angelman Syndrome research. The team fostered collaboration and open discussion, leading to exciting advancements in the field. Dr. Segal’s research focused on developing therapeutics to turn on the UBE3A gene, which is crucial in Angelman Syndrome.

Collaborative Efforts and Impact

Dr. Segal highlights the importance of collaboration and the impact of working closely with families affected by Angelman Syndrome. He describes the profound impact of interacting with parents and individuals living with the condition, emphasizing the personal connection and motivation it brings to his work. Dr. Segal’s lab has welcomed Angelman families, providing them with tours and fostering a deeper understanding of the research.

Current Research: CRISPR-Cas13 Approach

Dr. Segal explains his current research on using the CRISPR-Cas13 approach to target the antisense transcript that interferes with UBE3A expression. By selectively cutting off the interfering portion, UBE3A can be turned back on. The research has shown promising results in mice models of Angelman Syndrome.

Comparing Therapeutic Approaches

Dr. Segal acknowledges that various therapeutic approaches, such as ASOs and shRNAs, are being explored in the field. He emphasizes the need to back multiple approaches and evaluate their effectiveness in treating Angelman Syndrome. The CRISPR-Cas13 approach offers unique advantages, but further research is needed to determine the most effective treatment options.

The Infrastructure Project

Dr. Segal discusses the FAST-funded infrastructure project, which aims to streamline the evaluation of potential drugs for Angelman Syndrome. The project brings together a team of experts to analyze and test drugs from pharmaceutical companies. This collaborative effort ensures consistent evaluation and facilitates the development of effective treatments.

Conclusion

Dr. Segal expresses his commitment to continue working towards developing therapeutics for Angelman Syndrome. He shares his enthusiasm for participating in marathons and fundraising events to support the cause. Dr. Segal acknowledges the collaborative efforts of his team and expresses gratitude for the opportunity to serve the Angelman community.