EP 121: Breakthroughs and insights in ALS research with Dr. Michael Benatar

The Genetics Podcast

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