Quick Overview

Researchers are collaborating and making significant progress in the field of gene therapy for Angelman syndrome. They are using various approaches, such as viral vectors and biologicals, to target the UBE3A gene and reactivate it in the brain. The researchers are also working on developing outcome measures and biomarkers to assess the effectiveness of these therapies. While gene therapy is still a relatively new field, there have been successful clinical trials using viral vectors, and the safety record of gene therapy is improving. The researchers are optimistic about the future of gene therapy for Angelman syndrome, but acknowledge that it will take time to develop and refine these therapies.

The FAST FIRE team recently held a Q&A session at the 2015 FAST Science Summit. The team, consisting of David Segal, Anne Anderson, Scott Dindot, Ed Weeber, and Kevin Nash, answered questions from the audience and online viewers. Here are some highlights from the session:

UBE3A Protein Delivery

One online viewer asked Kevin Nash about the delivery of UBE3A protein to the brain. Kevin explained that they are using tags on the protein to trick the system into producing and taking up the protein. This method is similar to what David Segal is doing with his approach. The team is engineering the protein to be taken up by other cells in the brain.

Antisense Approach

Another question was directed at Dave Segal, asking him to explain how his approach is different from the antisense approach being taken by Isis. Dave explained that the antisense method is an anti-RNA approach, while their transcription factor approach aims to reduce the transcription of the antisense RNA. Both methods have pros and cons, but their approach is further along in development.

Funding Angelman Research

The team was also asked how they would spend $10 million on Angelman research if they had a child with the syndrome. Scott Dindot mentioned the FLY project, which aims to identify new therapies for Angelman. Ed Weeber said he would fund his own research on gene therapy, while Kevin Nash emphasized the importance of funding multiple avenues of research to target different aspects of the syndrome.

Baseline Testing and Outcome Measures

The team discussed the need for baseline testing and outcome measures in Angelman research. They mentioned the importance of establishing a registry and collecting data from patients to inform future clinical trials. They also emphasized the need for outcome measures that are specific to Angelman syndrome and can accurately assess the effectiveness of potential therapies.

Collaboration and Timeframe

The team highlighted the importance of collaboration in advancing Angelman research. They mentioned that working together allows them to combine their expertise and move the science forward more quickly. However, they also acknowledged that science is a slow process and it is difficult to predict how long it will take to develop effective therapies.

Gene Therapy and Safety

The team discussed the safety of gene therapy and viral vectors. They mentioned that gene therapy has a good safety record and there have been no major adverse events reported. They also mentioned that there are ongoing clinical trials using viral vectors, but there is still a lot of research to be done in this area.

Blood-Brain Barrier and Drug Delivery

The team discussed the challenges of delivering drugs across the blood-brain barrier. They mentioned that disrupting the blood-brain barrier can have both positive and negative effects, and it is important to consider the specific disease and the potential risks before attempting to disrupt the barrier. They also mentioned that there are safer methods, such as stereotactic neurosurgery, for delivering drugs to the brain.

Overall, the Q&A session provided valuable insights into the current state of Angelman research and the challenges that researchers face. The team emphasized the importance of collaboration, funding, and developing specific outcome measures for the future of Angelman research.

Talk details

  • Title: FAST FIRE Team Q&A
  • Author(s): David Segal, Anne Anderson, Scott Dindot, Ed Weeber, Kevin Nash
  • Author(s)’ affiliation: University of California, Davis; Baylor College of Medicine; University of South Florida; Texas A&M University
  • Publication date: 2015-12-04
  • Collection: 2015 FAST Science Summit