In this episode of the DNA Today podcast series, 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
Read the latest article from Genomenon in the Journal of Precision Medicine that reveals the clinical and genetic complexity of ALS and impacts on diagnosis and genetic testing.
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