Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. Jim Wilson
In this episode of Angelman Updates with Dr. Terry Jo Bichell, Dr. Jim Wilson, a professor at the University of Pennsylvania, discusses the progress being made in treating Angelman Syndrome. Dr. Wilson explains that Angelman Syndrome presents unique opportunities for intervention at the molecular level due to the specific mutations in the UBE3A gene. He discusses two approaches being explored: gene therapy and genome editing. The gene therapy approach involves delivering a normal version of the UBE3A gene into cells using a viral vector, while the genome editing approach aims to modify the patient’s own gene to activate UBE3A production. Dr. Wilson emphasizes the importance of diversifying research efforts to find the most effective treatment options. He also mentions other disorders his lab is working on, such as Rett syndrome and CDKL5 deficiency disorder. Overall, Dr. Wilson’s research offers hope for the future treatment of Angelman Syndrome and other rare neurologic diseases.
In this edition of Angelman Updates, Dr. Terry Jo Bichell interviews Dr. Jim Wilson, a professor at the University of Pennsylvania and an expert in gene therapy. Dr. Wilson discusses his work on Angelman Syndrome and the potential for gene therapy, antisense oligonucleotides, and genome editing to treat the disorder. He also highlights the collaborative efforts of scientists and foundations in the pursuit of effective treatments for Angelman Syndrome.
Dr. Jim Wilson’s Background
Dr. Jim Wilson is a professor at the University of Pennsylvania with a focus on gene therapy. He runs the gene therapy program and the Orphan Disease Center, where Angelman Syndrome is an important component. Dr. Wilson has been working on gene therapy for almost 30 years and has extensive experience in the field.
The Promise of Angelman Syndrome Research
Dr. Wilson expresses his optimism about progress in Angelman Syndrome research. He highlights the unique opportunities for intervention at the molecular level due to the specific biology and regulation of the UBE3A gene. He also mentions the encouraging data from a pilot human study using antisense oligonucleotides (ASOs) to reactivate the gene, indicating the potential for improvement in patients with Angelman Syndrome.
Two Approaches: AAV UBE3A and AAV CRISPR-Cas9
Dr. Wilson explains that his team is pursuing two different approaches for treating Angelman Syndrome. The first approach is AAV gene therapy, where a normal version of the UBE3A gene is delivered to cells using a viral vector. The second approach is genome editing using CRISPR-Cas9 technology, which aims to modify the patient’s own gene to activate UBE3A expression. Both approaches have shown promise in animal models of Angelman Syndrome.
Delivery Challenges and Collaborations
One of the challenges in gene therapy and genome editing is delivering the therapeutic agents to enough cells in the brain. Dr. Wilson’s team is collaborating with Amicus Therapeutics to engineer a form of UBE3A that can be taken up by nearby cells, increasing the potential impact of the treatment. This collaboration was made possible by seed funding from the Foundation for Angelman Syndrome Therapeutics (FAST).
The Future of Angelman Syndrome Treatments
Dr. Wilson envisions a future where multiple treatment options are available for Angelman Syndrome. He believes that ASOs may progress into clinical development and become commercially available before gene therapy or genome editing approaches. However, he sees the potential for a one-time gene therapy or genome editing treatment to supplant ASOs in the long run. Dr. Wilson emphasizes the importance of diversifying research efforts to find the best treatment options for the Angelman Syndrome community.
Dr. Wilson’s Personal Interests
Outside of his work, Dr. Wilson enjoys fitness activities, particularly cycling. He participates in the Million Dollar Bike Ride, a fundraising event organized by the Orphan Disease Center, which supports research for rare diseases. Dr. Wilson believes in the power of fitness to improve the well-being of individuals with rare diseases.
Other Disorders and Collaborations
In addition to Angelman Syndrome, Dr. Wilson’s team is working on other rare disorders, such as Rett syndrome and CDKL5 deficiency disorder. They collaborate with other scientists and foundations in these areas to share knowledge and accelerate progress in rare disease research.
Dr. Jim Wilson’s work in gene therapy offers hope for the treatment of Angelman Syndrome. His research, collaborations, and dedication to rare disease research demonstrate the potential for advancements in understanding and treating this complex disorder. The collaborative efforts of scientists and foundations are crucial in driving progress and improving the lives of individuals with Angelman Syndrome.
- Title: Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. Jim Wilson
- Author(s): Jim Wilson
- Author(s)’ affiliation: Perelman School of Medicine at the University of Pennsylvania
- Publication date: 2021-08-20
- Collection: Angelman Updates with Dr. Terry Jo Bichell