Overview of the FAST research agenda for gene therapy and genetic editing in Angelman syndrome

Quick Overview

In this presentation from the 2017 FAST Science Summit, Allyson Berent provides an overview of the current research agenda for gene therapy and genetic editing in Angelman syndrome. She explains the different approaches being explored, such as gene replacement therapy and activating the paternal copy of the gene, and highlights the progress that has been made in the past year. Berent emphasizes the importance of raising funds, participating in studies, and registering in the global registry to support the development of potential therapies. She concludes by expressing gratitude to the FAST FIRE team and the Marnier-Lapostolle Foundation for their contributions to the research.

Introduction

The author, Allyson Berent, Chief Science Officer of the Foundation for Angelman Syndrome Therapeutics, welcomes attendees to the session on gene therapy and gene editing at the 2017 FAST Science Summit. She emphasizes the importance of understanding these therapeutic approaches and the progress made in the field.

Understanding Angelman Syndrome

Berent explains that Angelman syndrome is caused by a reduction in the UBE3A gene, which is found on chromosome 15. She describes how abnormalities in this gene can affect brain function and lead to symptoms such as poor motor coordination, speech difficulties, seizures, and learning disabilities.

Therapeutic Approaches

Berent discusses different therapeutic approaches for Angelman syndrome, including gene replacement therapy, gene editing, and downstream therapeutics. She explains that gene replacement therapy involves delivering a functional UBE3A gene or protein into the brain cells using a virus as a delivery vehicle. Gene editing, on the other hand, focuses on activating the paternal copy of the gene that is normally silenced. Downstream therapeutics aim to address specific symptoms by targeting proteins affected by the UBE3A gene.

Current Progress and Future Agenda

Berent highlights the progress made in the past year, with several approaches moving closer to human clinical trials. She emphasizes the importance of funding research, participating in studies, and registering in the global registry to support the development of effective treatments. Berent concludes by expressing gratitude to the FAST FIRE team and the Marnier-Lapostolle Foundation for their contributions to the research agenda.

Q&A Session

During the Q&A session, Berent answers questions about the silencing of paternal genes in mice with Angelman syndrome.

Overall, Berent’s article provides an overview of the FAST research agenda for gene therapy and genetic editing in Angelman syndrome, explaining the different therapeutic approaches and highlighting the progress made in the field. She encourages parents and caregivers to stay informed and actively participate in supporting research efforts.