#275 ALS Genetics with Dr. Patrick Short

In this episode we're delving into the intricate landscape of ALS (Amyotrophic Lateral Sclerosis), commonly known as Lou Gehrig's disease. Returning to the show is Dr. Patrick Short, CEO and Co-Founder of the healthtech platform Sano Genetics. With his expertise in researching large-scale genome sequencing and rare disorders, Dr. Short provides invaluable insights into the genetics of ALS.

Dr. Patrick Short is a Cambridge-trained PhD geneticist with experience researching large-scale genome sequencing and rare disorders. He is CEO and co-founder of healthtech platform Sano Genetics, which is accelerating the world’s transition to precision medicine. Sano simplifies studies, working with pharmaceutical companies and biotechs to find, screen, and engage participants faster and more cost effectively; with researchers to increase efficiency and impact; and with patient advocacy groups to drive research with and for their communities.

Understanding the Role of Genetics in ALS

- Dr. Short sheds light on the role genetics plays in ALS and discusses potential non-genetic factors that contribute to the disease.

Genetic Factors and Risk for ALS

- Exploration of genes associated with a higher risk for ALS and whether they contribute to diagnosis or merely increase susceptibility.

Evolution of Understanding in ALS Genetics

- Dr. Short discusses how our understanding of ALS genetics has evolved in recent years and offers insights into future advancements.

Comparing ALS with Other Neurodegenerative Disorders

- Insights into how the genetic landscape of ALS differs from conditions like Alzheimer's and Parkinson's disease.

The "Light The Way" Program by Sano Genetics

- An introduction to Sano Genetics' free program, "Light The Way," designed for families affected by ALS.

- Eligibility criteria and the enrollment process for families interested in participating in the "Light The Way" program.

- Key objectives and expected outcomes of the "Light The Way" program, focusing on uncovering genetic risks for ALS.

Challenges in Large-Scale Genetic Studies

- Dr. Short discusses the complexities and challenges involved in conducting large-scale genetic studies focused on ALS.

Contributions to ALS Research and Therapy Development

- Envisioning how data collected can contribute to our understanding of ALS and the development of potential therapies.

Importance of International Collaboration

- Insights into the crucial role of international collaboration and data sharing in advancing genetic research and therapy development for ALS.

As we navigate the intricate genetics of ALS, Dr. Patrick Short provides a wealth of knowledge and perspective, offering hope for advancements in diagnosis, treatment, and ultimately, a cure for this devastating disease. Join us in this enlightening conversation as we strive to unravel the mysteries of ALS and pave the way for a brighter future.

If you enjoyed hearing from Dr. Short, listen to Episode #106 of DNA Today where he shared about the genetics of autism. Dr. Short also hosts Sano Genetics’ show, The Genetics Podcast; you can hear our host Kira Dineen on Episode #15. She will also be a panelist on Sano Genetics’ upcoming webinar exploring newborn screening, stay tuned! A few years ago, Kira was the writer of a Sano Genetics blog series, “Explained By A Genetic Counselor”.

If you want to hear from a patient perspective we highly recommend Episode #16 of It Happened To Me with Brooke Eby. It’s the most popular episode of the podcast by far (nearly 10,000 views on YouTube)! Kira Dineen is also the Executive Producer of the show.

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.

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