#158 Mark Kiel on ALS Genetics

#158 Mark Kiel on ALS Genetics

In this episode we are exploring the genetics of ALS with Mark Kiel, the Chief Science Officer and Co-Founder of Genomenon. Genomenon is an AI-driven genomics company that keeps pace with the constant advancements made in genomics and connects that research to patient DNA to help diagnose and treat patients with rare genetic diseases and cancer.

Mark Kiel completed his M.D., Ph.D., and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he oversees the company’s scientific direction and product development. Mark has extensive experience in genome-sequencing and clinical data analysis.

On This Episode We Discuss:

Overview of ALS

How ALS is diagnosed

Causes of ALS

Genetic testing for pathogenic variants

Expansion of the list of causative genes and variants for ALS

Uncovered trends in age at onset and rate of progression

New data on the prevalence of gene mutations in ALS

Validation of the novel utility of the genomic landscape for ALS

To learn more about Genomenon and the findings from their comprehensive Genomic Landscape for ALS, visit their website, or check them out on Twitter and LinkedIn.

Stay tuned for the next new episode of DNA Today on October 15th where we welcome Erika Stallings and Dena Goldberg to discuss the organization, Black Cancer Genes, in honor of breast cancer awareness month! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

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Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED)

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