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Podcast: The goal is de novo assembly in the clinic, says Jim Lupski, Baylor

Jim Lupski is a professor at Baylor College of Medicine where he’s on the frontline of incorporating genomic research into everyday clinical practice. The story begins with Jim’s own genome, which is perhaps the most sequenced genome ever. Jim’s life as a leading genomic researcher has been driven in part for a strong personal reason. He has a rare genetic disease named after three researchers who first defined it, Charcot Marie Tooth Neuropathy. What began as a personal journey to uncover the source of his own disease led Jim to seminal work that launched the field of structural variation. Working first in the gene-centric mindset of the 90’s, Jim’s team discovered the first gene known to be associated with CMT disease, PMP22. But while this gene is related to 70% of the cases, it wasn’t the mutation responsible for Jim’s own version of CMT. His discovery of that would be some years later, and from a much better picture of his genome. Find out in this Mendelspod interview where Jim thinks we are now in genomic science, and why he says the goal in the clinic should be a de novo assembly.

 

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