Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. Yong-Hui Jiang

Quick Overview

In this episode of Angelman Updates with Dr. Terry Jo Bichell, Dr. Yong-Hui Jiang discusses his work on Angelman Syndrome. Dr. Jiang is a professor at Yale University School of Medicine and has been working on Angelman Syndrome since 1995. He has made significant contributions to the field, including identifying the Angelman UBE3A gene and creating the first Angelman mouse model. Currently, Dr. Jiang is working on two projects: testing new treatments for Angelman Syndrome using animal models and creating a biorepository for human patient-derived cells. The biorepository will allow researchers to study the Angelman brain in a Petri dish and test new treatments. Dr. Jiang explains that the brain organoids mimic the structure and activity of the human brain, making them a valuable tool for studying Angelman Syndrome. He also discusses the challenges and limitations of working with brain organoids. Overall, Dr. Jiang’s work holds promise for advancing our understanding and treatment of Angelman Syndrome.

Introduction

In this joint production by the Foundation for Angelman Syndrome Therapeutics and the Angelman Syndrome Foundation, Dr. Terry Jo Bichell interviews Dr. Yong-Hui Jiang about his work on Angelman Syndrome. Dr. Jiang is a professor in genetics, neuroscience, and pediatrics at Yale University School of Medicine.

Dr. Jiang’s Background

Dr. Jiang has been working on Angelman Syndrome since 1995 when he was a student at Baylor. He played a key role in identifying the Angelman UBE3A gene and creating the first Angelman mouse model. He has continued his work on Angelman Syndrome throughout his career.

Current Projects

Dr. Jiang’s lab at Yale is currently focused on two major projects related to Angelman Syndrome. The first project involves studying Angelman mouse models and testing new treatments in collaboration with Sage Therapeutics, a company based in Boston. The second project, in collaboration with FAST (Foundation for Angelman Syndrome Therapeutics), aims to create a biorepository for human patient-derived Angelman cells. These cells will be used to create brain organoids, or mini brains, for studying the disease and testing new treatments.

The Biorepository Project

The biorepository project aims to collect blood samples from Angelman patients to create induced pluripotent stem cells (iPSCs) and eventually brain organoids. The goal is to have a diverse range of samples representing different types of Angelman Syndrome. The project is currently accepting blood samples from patients aged 2 to 18 who meet certain eligibility criteria. The samples will be converted into iPSCs and distributed to researchers worldwide for further study.

Studying Angelman Brain in the Petri Dish

The brain organoids created from the patient-derived iPSCs allow researchers to study the Angelman brain in a Petri dish. These organoids mimic the structure and cell types found in the human cortex. While they are not a perfect replica of the human brain, they provide a valuable tool for studying the disease and testing potential treatments. The organoids can be used to study gene expression, electrical activity, and connectivity between neurons.

Future Possibilities

The brain organoids offer exciting possibilities for studying Angelman Syndrome and testing new treatments. Researchers can observe changes in gene expression, electrical activity, and connectivity in the organoids, which may provide insights into the disease and potential therapeutic targets. The organoids can also be used to test the effectiveness of different treatments, including medications and genetic therapies.

Conclusion

Dr. Jiang’s work on Angelman Syndrome, funded by the FAST organization, is focused on studying Angelman mouse models and creating a biorepository for patient-derived cells. The brain organoids created from these cells provide a unique opportunity to study the disease and test potential treatments. The ongoing research offers hope for future advancements in understanding and treating Angelman Syndrome.