EP 121: Breakthroughs and insights in ALS research with Dr. Michael Benatar
February 8, 2024
Welcome to this episode of The Genetics Podcast as we host Dr. Michael Benatar, a preeminent figure in the fight against Amyotrophic Lateral Sclerosis (ALS). Michael is a Professor of Neurology, the Chief of the Neuromuscular Division, and the Executive Director of the ALS Center at the University of Miami's Miller School of Medicine. Tune in as he and Patrick discuss research and treatment for presymptomatic gene carriers and other people at risk for ALS, as well as the future of ALS research.
Summary:
0:00 Introduction
0:50 Reflections from the 34th International Symposium on ALS/MND in Basel
1:50 Michael’s professional journey, initial challenges he encountered, and how the field of neurology has evolved over the years
3:10 An introduction to the ALS landscape, including its presentation, the genes involved, and potential treatment options
4:50 A framework for the stages of ALS, from being at risk to phenotypic conversion, and ultimately to the manifestation of disease symptoms.
8:00 The ALS-FTD axis and a broader perspective on the spectrum of neurodegenerative diseases
10:50 Potential genetic modifiers of ALS, including C9orf72 and SOD1, and future research
11:55 A refined approach to identifying precise biomarkers for ALS
15:15 The potential of phenotypic reversal in adult ALS patients undergoing ASO therapy
17:50 An introduction to the global ATLAS trial and applying therapies to pre-symptomatic populations
21:30 The broadening the ATLAS trial to include other genetic forms of ALS
23:20 The identification of additional biomarkers for ALS that may allow for earlier diagnosis or provide more insights into ALS
25:50 Holistic care for the ALS community, including patients and their loved ones
30:40 The evolving picture of genetics and ALS, beyond known monogenic risk factors
36:00 Michael’s 2016 publication in Neurology: Presymptomatic ALS genetic counseling and testing: Experience and recommendations
37:45 The need for legal protection from insurance policy changes given predictive biomarker results
38:30 Looking ahead 10-20 years: What will prove transformative in the next decade for ALS research and treatment?
41:30 Exploration of a generalized treatment for neurodegenerative diseases and the potential to leverage a universally-protective genetic mechanism
42:10 Closing remarks and gratitude for the those working to improve the lives of ALS community