Neurology® Podcast Ten Years of Neurology® Genetics
Mar 27, 2025
Dr. Stefan Pulst, Chair of Neurology and Human Genetics at the University of Utah, delves into a decade of transformative changes in neurology genetics. He discusses the impact of the dedicated journal launched in 2015, which has helped connect genetic variants to rare diseases. The conversation highlights significant advances in genetic testing and how these developments are shaping personalized treatments. Lastly, he touches on the challenges of developing genetic therapies and the importance of collaboration and mentorship within the growing neurogenetics community.
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Sequencing Revolution Boosts Genetic Discovery
- Sequencing technologies have evolved from Sanger to long-read whole genome sequencing, enabling discoveries of novel repeat diseases.
- Bioinformatics enhancements enable detection of repeats even in shorter read sequences, deepening genetic insights.
Lower Disease Penetrance Revealed
- Population-based genetic studies like the UK Biobank reveal that many mutations have lower penetrance than previously thought.
- This improves risk assessment and diagnosis for mutations such as the C9 or 72 repeat expansion linked to ALS or FTD.
Prioritize Extensive Genetic Sequencing
- Clinicians should sequence more extensively since sequencing is now often cheaper than repeated MRIs and offers more diagnostic value.
- Genetic testing also enables clearer diagnoses, reproductive planning, and guides personalized treatment options.