The Journey to Better Therapeutics

Quick Overview

Dr. Becky Burdine from Princeton shared her personal journey with Angelman Syndrome (AS) and the significant strides in research funded by the Angelman Syndrome Foundation (ASF). Her daughter, Sophie, diagnosed with AS, has shown progress in communication, highlighting the importance of ongoing research. Dr. Burdine discussed the history of AS research, from its identification by Harry Angelman to the discovery of the UBE3A gene’s role. The ASF has funded over $15 million in research, supporting projects like melatonin trials for sleep issues and exploring gene therapy and antisense oligonucleotides (ASOs) to reactivate the paternal UBE3A gene. The foundation’s Scientific Advisory Council rigorously evaluates research proposals to ensure impactful use of funds. Recent advancements include potential new drugs, improved clinical trials, and innovative therapeutic strategies. Dr. Burdine emphasised the importance of fundamental research and community involvement in trials to advance treatment options for AS.

At the 2024 ASF Family Conference, Dr. Rebecca Burdine from Princeton University shared her personal and professional journey in the realm of Angelman Syndrome (AS) research. As both a scientist and a mother of a child with AS, Dr. Burdine provided a unique perspective on the progress and future of therapeutic developments for this condition.

A Personal Journey

Dr. Burdine began by sharing her personal story, introducing her daughter Sophie, who was diagnosed with Angelman Syndrome at 11 months old. Sophie, now 18, has grown into a vibrant young woman, and her journey has been a source of inspiration for Dr. Burdine’s work. She humorously recounted Sophie’s recent development of a pig snort as a form of communication, highlighting the challenges and joys of raising a child with AS.

The Historical Context

Dr. Burdine traced the history of Angelman Syndrome back to its discovery by Dr. Harry Angelman in 1969. She shared a touching anecdote about Dr. Angelman’s niece, who was unaware of her uncle’s impact on the AS community. This historical perspective set the stage for understanding the scientific advancements that have been made since then.

Scientific Breakthroughs

The talk delved into the genetic discoveries that have shaped our understanding of AS. Key milestones included the identification of deletions on chromosome 15 and the role of the UBE3A gene. Dr. Burdine highlighted the development of mouse models, which have been instrumental in studying the syndrome and testing potential therapies.

Funding and Research

A significant portion of the talk was dedicated to the Angelman Syndrome Foundation’s (ASF) role in funding research. Since its inception, ASF has provided over $15 million in research funding, a testament to the dedication of families and supporters. Dr. Burdine emphasised the importance of this funding, which has supported both fundamental research and clinical trials.

Therapeutic Developments

Dr. Burdine discussed various therapeutic approaches being explored, including antisense oligonucleotides (ASOs) and viral gene therapies. She highlighted the work of researchers like Art Beaudet, who have been pivotal in advancing these therapies. The potential of small molecules to activate the paternal UBE3A gene was also discussed, offering hope for less invasive treatment options.

Clinical and Fundamental Research

The conference also featured updates on clinical research, including studies on anxiety behaviours in AS and innovative methods for assessing language comprehension. Dr. Burdine underscored the importance of fundamental research in understanding the mechanisms of AS and identifying potential therapeutic targets.

Looking Ahead

Dr. Burdine concluded by expressing gratitude to the ASF community for their support and participation in research efforts. She encouraged continued engagement and emphasised the importance of ongoing research to improve the lives of individuals with Angelman Syndrome.

In summary, Dr. Burdine’s talk was a compelling blend of personal narrative and scientific insight, highlighting the progress made in AS research and the promising future of therapeutic developments. Her passion and dedication to the cause were evident, inspiring hope and optimism within the AS community.