Collaborative efforts toward an AAV gene replacement therapy for the treatment of Angelman syndrome
Dr. Jim Wilson and Mr. John Crowley presented at the 2019 FAST Science Summit on their collaborative efforts towards developing an adeno-associated virus (AAV) gene replacement therapy for Angelman syndrome. Dr. Wilson discussed the challenges of delivering the therapeutic payload to the brain, including overcoming the blood-brain barrier and targeting specific cells. He shared promising results from animal studies, showing successful gene transfer and correction of the disease phenotype. However, he also highlighted the need to address potential toxicity in the dorsal root ganglion. Dr. Wilson expressed optimism that with continued research and funding, they will be able to develop a safe and effective gene therapy for Angelman syndrome.
In this talk, we will discuss the collaborative efforts of Dr. Jim Wilson and Mr. John Crowley in developing an adeno-associated virus (AAV) gene replacement therapy for the treatment of Angelman syndrome. Dr. Wilson, a professor of medicine at the University of Pennsylvania, is a pioneer in gene replacement therapy and has been working on the development of AAV gene delivery for decades. Mr. Crowley, a parent of children affected by rare diseases, has made significant contributions to the field and will share his personal story during the presentation.
Dr. Wilson has been leading the Angelman Syndrome program at the University of Pennsylvania Gene Therapy Program. The program aims to develop a gene therapy treatment for Angelman syndrome, a rare genetic disorder that affects the nervous system and causes developmental disabilities. The team has been working on delivering the normal version of the UBE3A gene, which is mutated in individuals with Angelman syndrome, to the cells of the brain using AAV vectors.
John Crowley’s Story
John Crowley, a parent of children affected by rare diseases, will share his personal journey and the impact it has had on his family. He has been a strong advocate for finding treatments and cures for rare diseases and has made significant contributions to the field. His story has been featured in books, movies, and major publications like the Wall Street Journal and New York Times bestsellers.
The Journey of the Crowley Family
John Crowley shares the story of his family’s diagnosis of Pompe disease, a rare form of muscular dystrophy, and the challenges they faced in finding treatments and improving the quality of life for their children. He describes the determination and resilience they exhibited in their quest for a cure and the founding of their company, Amicus Therapeutics, to address the unmet needs in the field of rare diseases.
The Mission of Amicus Therapeutics
John Crowley introduces Amicus Therapeutics, a company he founded to develop treatments for rare diseases. He emphasizes the patient-centered approach of the company and its commitment to making a difference in the lives of individuals and families affected by rare diseases. He highlights the importance of collaboration and the company’s partnerships with other organizations and researchers in the field.
Progress in Gene Therapy for Angelman Syndrome
Dr. Wilson provides an update on the progress of their research funded by FAST (Foundation for Angelman Syndrome Therapeutics). He explains the challenges they face in delivering the gene therapy to the brain and the strategies they have developed to overcome these barriers. He discusses the use of AAV vectors and the promising results they have achieved in animal models of Angelman syndrome.
The Route of Delivery
Dr. Wilson explains the importance of the route of delivery in gene therapy and the different approaches they have explored. He discusses the challenges of crossing the blood-brain barrier and the potential of injecting the vector directly into the cerebral spinal fluid to bypass this barrier. He presents the results of their experiments in animal models and the potential effectiveness of this approach in humans.
The Challenges and Solutions
Dr. Wilson acknowledges the challenges they face in delivering genes to the brain, especially in larger organs like the primate brain. He discusses the limitations of current methods and the need for improvement. He highlights the issue of dorsal root ganglion toxicity and the efforts they are making to address this problem. He expresses optimism about finding a solution and improving the safety and effectiveness of gene therapy for Angelman syndrome.
Dr. Wilson concludes by expressing his optimism about the future of gene therapy for Angelman syndrome. He believes that they are making progress and that gene therapy may be effective in treating the disorder. He emphasizes the need for further research and collaboration to determine the optimal approach and to ensure the safety and efficacy of the treatment. He looks forward to future discussions with stakeholders and the possibility of moving into clinical trials.
The collaborative efforts of Dr. Jim Wilson and Mr. John Crowley in developing a gene replacement therapy for Angelman syndrome show great promise. Their dedication and commitment to finding treatments and cures for rare diseases are inspiring. While challenges remain, their progress in overcoming barriers and improving the safety and effectiveness of gene therapy is encouraging. With continued research and collaboration, there is hope for a future where individuals with Angelman syndrome can lead happy and healthy lives.
- Title: Collaborative efforts toward an AAV gene replacement therapy for the treatment of Angelman syndrome
- Author(s): Jim Wilson, John F. Crowley
- Author(s)’ affiliation: University of Pennsylvania; Amicus Therapeutics
- Publication date: 2019-12-27
- Collection: 2019 FAST Science Summit