How FAST’s Laser Focus Benefits Translational Efforts in Neurodevelopmental Disorders More Broadly: The View from a Large Private Research Funder
Dr. John Spiro, Senior Vice President and Senior Scientist at the Simons Foundation, gave a keynote speech at the FAST Science Summit. He discussed how the foundation’s laser focus benefits translational efforts in neurodevelopmental disorders, specifically in the context of Angelman Syndrome. Dr. Spiro highlighted the importance of understanding the genetic architecture of neurodevelopmental disorders and the potential for targeted therapies, such as antisense oligos (ASOs), to address the underlying genetic causes. He praised the work of the Angelman Syndrome community, particularly FAST, in driving progress and setting the stage for translational research. Dr. Spiro also emphasized the need for a shift in the field’s thinking towards human models and the importance of early intervention. He concluded by acknowledging the complexity of biology and the ongoing challenges in understanding the full extent of the genome.
Dr. John Spiro, Senior Vice President and Senior Scientist at the Simons Foundation, is the keynote speaker at the 2023 FAST Science Summit. In his talk, he discusses how FAST’s laser focus benefits translational efforts in neurodevelopmental disorders, providing insights from a large private research funder.
The Simons Foundation and its Mission
The Simons Foundation is a non-profit organization dedicated to advancing research in mathematics and basic sciences. It is highly regarded in the scientific community, with grants from the foundation being considered prestigious. Dr. Spiro highlights the foundation’s commitment to championing basic science research.
The Importance of the Simons Foundation’s Support
Dr. Spiro recalls his first meeting with the Simons Foundation and the impression it left on him. He emphasizes the foundation’s critical and rigorous approach to science, which has attracted top scientists and researchers. He expresses his pride in the foundation’s recognition of the work being done by FAST and the Angelman Syndrome community.
Tipping Points in Neurodevelopmental Disorders
Dr. Spiro discusses four tipping points in the history of neurodevelopmental disorders. He begins with the Simons Simplex Collection, a project that focused on the genetic component of autism spectrum disorders. The collection led to the discovery of numerous genes associated with autism, bringing new talent and funding into the field.
Next, he highlights a reversal experiment in a mouse model of Rett syndrome. The experiment demonstrated that turning on a gene that had been turned off could rescue behavioral deficits in the mice. This finding challenged the notion of neurodevelopmental diseases being irreversible and sparked new questions about the potential for late rescues.
Dr. Spiro then discusses ASO gene therapies for spinal muscular atrophy (SMA). He explains how antisense oligos (ASOs) and gene therapy have been used to target the genetic cause of SMA, leading to significant improvements in motor ability. This breakthrough introduced a new class of drugs and emphasized the importance of early intervention.
Finally, Dr. Spiro focuses on the Angelman community and FAST’s efforts in 2023. He highlights the unique genomic architecture of Angelman syndrome, which presents opportunities for targeted interventions. He praises FAST’s laser focus on building a robust ecosystem, collecting natural history data, and conducting preclinical work. He believes that the community’s progress with ASOs could change the field’s thinking about the most effective use of animal models and the importance of human studies.
Dr. Spiro concludes by acknowledging the complexity of biology and the vast amount of knowledge still to be gained. He expresses his gratitude for the opportunity to speak at the FAST Science Summit and commends the Angelman community for its leadership in the field. He emphasizes the importance of maintaining perspective and continuing to push the boundaries of scientific research in neurodevelopmental disorders.
- Title: How FAST’s Laser Focus Benefits Translational Efforts in Neurodevelopmental Disorders More Broadly: The View from a Large Private Research Funder
- Author(s): John Spiro
- Author(s)’ affiliation: Simons Foundation
- Publication date: 2023-11-12
- Collection: 2023 FAST Science Summit