Researchers Discuss the Current Landscape of Angelman Syndrome Research

Quick Overview

Researchers Dr. Stormy Chamberlain and Dr. Ben Philpot gave a talk on the latest updates in Angelman Syndrome research at the 2017 ASF Family Conference. They discussed various research topics, including the role of UBE3A in the cell, the development of mouse models, therapeutic approaches such as gene therapy and UBE3A unsilencing, and the importance of developing good biomarkers for clinical trials. They emphasized the need to balance the search for a cure with addressing the immediate needs of individuals with Angelman Syndrome. While there are promising treatments being developed, it is important to carefully evaluate their efficacy and potential side effects. The researchers also highlighted the interest of pharmaceutical companies in Angelman Syndrome research, as it presents a unique opportunity for success and potential financial return.

Introduction

In a recent talk, Dr. Stormy Chamberlain from the University of Connecticut and Dr. Ben Philpott from the University of North Carolina discussed the current state of Angelman Syndrome research. They highlighted the importance of basic science studies, the development of therapeutic approaches, and the need for clinical trials and biomarkers. They also addressed the challenges and potential treatments for Angelman Syndrome.

Importance of Basic Science Studies

Dr. Chamberlain emphasized the importance of basic science studies in understanding Angelman Syndrome. She explained that researchers are studying the role of UBE3A, a gene that labels proteins in cells for disposal. Understanding which proteins are targeted by UBE3A can provide insights into potential therapeutic approaches. Additionally, researchers are investigating the different forms of UBE3A and their locations within cells to determine their roles in Angelman Syndrome.

Therapeutic Approaches

Dr. Philpott discussed various therapeutic approaches being explored for Angelman Syndrome. He mentioned gene therapy, which involves delivering the UBE3A gene to cells using viral-like particles. Another approach is unsilencing the dormant allele of UBE3A using small molecules or antisense oligonucleotides. These approaches aim to restore UBE3A expression and potentially improve symptoms associated with Angelman Syndrome.

Challenges and Clinical Trials

The researchers acknowledged the challenges in developing treatments for Angelman Syndrome. They discussed the need to balance slow and steady research strategies with high-risk, high-reward approaches. They also highlighted the importance of establishing optimal ages for intervention and determining the brain regions to target. Additionally, they emphasized the need for good biomarkers and outcome measurements for clinical trials to ensure their success.

Future Directions

Dr. Chamberlain and Dr. Philpott expressed their excitement about the potential treatments for Angelman Syndrome. They discussed ongoing clinical trials and the involvement of pharmaceutical companies in developing therapies. They also emphasized the importance of considering the individual needs of patients and the potential for personalized treatments. The researchers encouraged parents to stay informed and make decisions based on their comfort level and the available evidence.

Conclusion

In their talk, Dr. Chamberlain and Dr. Philpott provided an overview of the current state of Angelman Syndrome research. They highlighted the importance of basic science studies, discussed therapeutic approaches, and addressed the challenges and potential treatments for Angelman Syndrome. They emphasized the need for continued research and the involvement of pharmaceutical companies in developing therapies.