Panel Discussion with Researchers: Insights from the 2021 FAST Science Summit

Quick Overview

During a panel discussion at the 2021 FAST Science Summit, researchers addressed questions from the community regarding gene therapy and potential treatments for Angelman Syndrome. The panelists discussed concerns about overexpression of paternally expressed genes, the potential benefits of gene replacement therapy, and the use of different viral vectors for delivery. They also emphasized the importance of continued research and collaboration in order to develop personalized therapies for individuals with Angelman Syndrome. The researchers expressed their gratitude to the Angelman Syndrome community for their support and inspiration, and highlighted the progress that has been made in understanding and treating the condition. They encouraged families to remain hopeful and optimistic about the future of Angelman Syndrome research.

The 2021 FAST Science Summit brought together researchers, scientists, and experts in the field of Angelman syndrome to discuss the latest advancements and potential treatments for this rare genetic disorder. In a panel discussion, several researchers addressed questions from the community and shared their insights on various topics related to Angelman syndrome. Here are some highlights from the discussion:

Concerns about Overexpression of Paternally Expressed Genes for UPD

Dr. Wilson and Dr. Dindot discussed concerns about overexpression of paternally expressed genes in individuals with UPD (uniparental disomy). They explained that while there may be some regulation of gene expression when it becomes excessive, there is no evidence to suggest that a twofold increase in protein expression would be detrimental. In animal models, they observed that overexpression of UBE3A (a paternally expressed gene) did not result in any adverse symptoms. They also mentioned ongoing research on paternal activation approaches for overexpression in UPD.

Maternal and Paternal Activation Approaches

Dr. Wilson and Dr. Dindot further discussed the potential benefits of maternal and paternal activation approaches for Angelman syndrome. They highlighted studies that showed no phenotypic concerns in mouse models or cells when both maternal and paternal activation were achieved. They emphasized the need for further research to understand the effects of activation in different cell types and brain regions.

Gene Therapy as a Promising Approach

Dr. Wilson expressed his confidence in gene replacement therapy as a promising approach for Angelman syndrome. He explained that gene therapy has a long history of success and safety in other diseases, making it a viable option for Angelman syndrome. However, he acknowledged the need to address concerns about the durability of the therapy and the level of gene expression achieved.

Potential of Stem Cell Therapies

Dr. Nolta discussed the potential of stem cell therapies for Angelman syndrome. She explained that while cord blood or tissue banking may not be directly beneficial for stem cell therapies in the near future, it could be useful for other purposes or for potential future advancements in the field. She encouraged families to consider donating to research or public banks to support ongoing studies and help others in need.

Advancements in Animal Models

Dr. Dindot addressed questions about the development of animal models for Angelman syndrome. He explained that while there are plans to establish an Angelman syndrome pig model at UC Davis, the logistics and collaborations are still being worked out. He also mentioned the potential for sharing tissues and samples with other partners and research consortia.

FDA Support for Hematopoietic Stem Cell Gene Therapy

Dr. Nolta reassured the audience that the FDA is supportive of hematopoietic stem cell gene therapy for rare diseases. She explained that the FDA works closely with researchers throughout the process, providing guidance and support. She emphasized the importance of early engagement with the FDA and the collaborative efforts between researchers and regulatory agencies.

Messages of Hope for Families

In closing, each researcher shared a message of hope and encouragement for families living with Angelman syndrome. They expressed their gratitude for the support and inspiration provided by the community. They highlighted the progress being made in research and the promising future for potential treatments. They encouraged families to stay optimistic and continue their fight, assuring them that they are not alone in this journey.

The panel discussion at the 2021 FAST Science Summit provided valuable insights into the latest research and advancements in Angelman syndrome. The researchers’ dedication and commitment to finding effective treatments for this rare genetic disorder offer hope for a brighter future for individuals and families affected by Angelman syndrome.