The Angelman Biomarkers and Outcome Measures Alliance (A-BOM)

Quick Overview

The speaker, Terry Jo Bichell, discusses the importance of biomarkers and outcome measures in Angelman Syndrome research. She emphasizes the need for individuals with Angelman Syndrome to participate in studies and clinical trials to gather data and measure progress. Bichell also introduces a new app called Backpack Health that can help individuals with Angelman Syndrome manage their medical information. She encourages audience members to provide feedback on the app and get involved in biomarker and outcome measure studies.

By Terry Jo Bichell

Introduction

The Angelman Biomarkers and Outcome Measures Alliance (A-BOM) is a consortium between the Angelman Syndrome Foundation (ASF), FAST, and various players in the pharmaceutical, biotech, and technology industries. The alliance aims to develop meaningful outcome measures and biomarkers for Angelman syndrome.

Importance of Biomarkers and Outcome Measures

Biomarkers and outcome measures are crucial in understanding the effects of Angelman syndrome and evaluating the effectiveness of potential treatments. They provide objective data that can help researchers and clinicians make informed decisions.

Personal Connection

Terry Jo Bichell, the director of A-BOM, has a personal connection to Angelman syndrome as her son, Louis, was diagnosed with the disorder. Inspired by her son, Bichell pursued a Ph.D. in neuroscience and has been working in the field for the past 18 years.

The Need for Clinical Trials

Bichell emphasizes the importance of clinical trials in developing new treatments for Angelman syndrome. She encourages parents to actively participate in these trials and ask questions to better understand the potential benefits for their children.

Biomarkers and Outcome Measures Studies

A-BOM is currently conducting biomarkers and outcome measures studies to identify the most important areas to concentrate on. These studies involve measuring various factors such as sleep patterns, communication abilities, gait, and brain activity. The goal is to find reliable ways to measure progress and evaluate the effectiveness of treatments.

How to Get Involved

Bichell encourages parents to enroll their children in the Natural History Trial, register them in the Global Registry, and participate in other studies and trials. She also introduces a new app called Backpack Health, which allows users to store and share medical information easily.

Conclusion

Biomarkers and outcome measures are essential in advancing our understanding of Angelman syndrome and developing effective treatments. A-BOM is dedicated to conducting research and clinical trials to improve the lives of individuals with Angelman syndrome. Parents are encouraged to get involved and contribute to the ongoing efforts in finding a cure.