Somatic mosaic loss of sex chromosomes and kidney disease episode artwork

EPISODE · Oct 16, 2024 · 34 MIN

Somatic mosaic loss of sex chromosomes and kidney disease

from Absolute Gene-ius · host Parker Wilson, Jordan Ruggieri, Christina Bouwens

Same may think of the pathologist’s toolbox as only the microscope and their eyes, but in reality today’s pathologists are using more and more molecular methods like NGS and PCR in additional to their traditional tools. Meet Parker Wilson, MD, PhD. Parker is a faculty member Perelman School of Medicine at the University of Pennsylvania, focused on using modern molecular tools to investigate chronic kidney disease. He explains his work phenomenally, both from the general aspects, all the way down to the molecular methods, which include digital PCR. We learn about chronic kidney disease and the interesting genetic mutations associated with it, which Parker and his team are finding, include chromosomal loss. For this application, we hear how dPCR is adept at quantifying chromosome ratios within tissues, and is able to help them spot variations of only a single percent or two. Our career corner portion uncovers an academic and career path with uncertainty and challenges one might not expect. Parker helps normalize these challenges and underscores the value of mentors in helping navigate them successfully. In the end, you have a phenomenally intelligent physician scientists sharing his exciting work and his insightful career development advice.Visit the Absolute Gene-ius pageto learn more about the guests, the hosts, and the Applied Biosystems QuantStudio Absolute Q Digital PCR System.  Visit the Absolute Gene-ius page to learn more about the guests, hosts, and science featured in the series. Explore how Applied Biosystems™ QuantStudio™ Digital and Real-Time PCR Systems support research across neuroscience, oncology, agriculture, and more.

Episode metadata supplied by the publisher feed · Published Oct 16, 2024

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Parker Wilson has taken a sometimes-unpredictable path to obtain his MD and PhD degrees and establish his physician scientist career, but he’s been quick to adopt and apply the molecular genetic pathology tools that are changing his field. Join us to hear about his exciting work where he uses digital PCR and NGS methods to identify and quantify rare mutations associated with kidney disease.

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Somatic mosaic loss of sex chromosomes and kidney disease

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