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Mendelspod Podcast

Theral Timpson
Mendelspod Podcast
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  • Theranos Had the Vision. Truvian Has the Execution. Our Chat with CEO Jay Srinivasan
    This is a free preview of a paid episode. To hear more, visit www.mendelspod.comOn today’s debut interview with Truvian Health, CEO Jay Srinivasan lays out the company’s bold but grounded plan to radically decentralize blood testing. With over $150 million raised and a benchtop instrument already in FDA review, Truvian aims to run 34 lab-quality tests from just eight drops of blood—in under 30 minutes.“Why does your blood have to t…
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  • Physicians Don't Want a Laundry List of Genes says Premal Shah, CEO of Myome
    This is a free preview of a paid episode. To hear more, visit www.mendelspod.comPremal Shah says that many companies in personal genomics have emphasized quantity over quality. Premal is the CEO of Myome, a company offering whole-genome interpretation built for the clinic rather than the consumer. Shah says Myome was founded on the belief that more data isn’t better data. “Physicians don’t want a laundry list of genes,” he told us …
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  • The Customer Case for iconPCR with Stefan Green and Yann Jouvenot
    A few weeks back we featured a next gen PCR technology called iconPCR that carries the promise to dramatically impact research. Today we take a customer’s-eye view of the technology. Dr. Stefan Green, who directs the Genomics and Microbiome Core Facility at Rush University, has been putting the instrument through its paces on challenging projects ranging from pathogen surveillance in Chicago to ultra-low biomass cleanroom samples for NASA. “PCR is both the greatest and worst invention of all time,” he says. “It’s empowered everything in molecular biology, but it introduces biases and artifacts. With iconPCR we finally have adaptive cycling that lets us stop at the right point for each sample.”Joining him is Yann Jouvenot, Senior Director of Product at n6, who explains how the company designed iconPCR’s AutoNorm technology to take the guesswork out of amplification. “PCR is to genomics what the printing press was to knowledge,” he says. “But unlike a press, PCR doesn’t produce identical copies at cycle two and cycle twenty-five. With iconPCR we’re helping scientists cut cycles before artifacts creep in, which means more accurate data and a better chance for every molecule to be represented.”* 0:00 “I wanted a device like this a decade ago.”* 6:41 PCR, the greatest and worst invention* 10:20 The “slope” method* 18:00 Protecting small samples* 28:45 Impact on research?Together they paint a picture of a deceptively simple but transformative innovation: a thermocycler that adapts in real time, reduces artifacts, saves time and labor, and improves the quality of genomic data. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe
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  • Alex Dickinson on Long Read Sequencing, Multi Omics, and the Next Frontier in Genomics
    Alex Dickinson, former Illumina executive and now host of The Geonomics Podcast, joins us for a wide-ranging conversation on the state of DNA sequencing and its future. Known for his independent voice, Alex isn’t afraid to speak plainly about the industry’s biggest players and its shifting technology landscape.* 0:00 Squarely in the long read age* 6:10 When short reads, when long?* 9:20 Whole genome testing* 15:00 Targeted long reads* 19:40 Roche’s new technology* 23:00 Multiomics: the bigger picter* 26:50 “I love MRD!”Our focus today is the economics of short reads versus long reads, the unexpected dominance of liquid biopsy, and why long reads are proving indispensable in cancer and rare disease diagnostics. He uses an illuminative metaphor.“The genome is like a jigsaw puzzle. With short reads, you’re stuck with thousands of tiny sky-blue pieces—it’s ambiguous. With long reads, you get bigger chunks, and suddenly you can see where the pieces belong. That’s how you detect the real structural changes in cancer,” he explains.Alex also dives into the new technology from Roche, weighing their disruptive potential. Beyond sequencing, he highlights the surge in multi-omics, particularly proteomics, and the gap between fast-moving diagnostics and available therapies. “Diagnostics is now ahead in many ways. In MRD especially, we can double progression-free survival if we catch cancer’s return early. The question is, do we have enough therapies to act on all this new information?” This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe
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  • Rapid Answers for Rare Disease: Katherine Stueland on GeneDx’s Mission
    In a time when many diagnostics companies are struggling, GeneDx is thriving by focusing squarely on solving one of medicine’s most pressing problems: the diagnostic odyssey for rare disease. CEO Katherine Stueland explains why the company has committed to whole exome and genome testing as first-line answers for children, and how their recent acquisition of Fabric Genomics expands their reach into AI-powered interpretation services.* 0:00 Success coming from a focus on rare disease* 5:20 Why whole genome testing?* 13:30 “No margin, no mission”* 15:50 Acquiring Fabric Genomics* 26:10 Bullish on healthy newborn screening“We’ve been focused on solving the fact that it still takes, on average, five years for a child with a rare genetic disease to get a genetic test and an accurate diagnosis. That’s something we can now provide within weeks, if not days, if not 48 hours.”On newborn screening, Stueland points to the GUARDIAN study at Columbia as a model: “What we’ve been able to find is a diagnosis in 3.2% of these otherwise healthy newborns. And the average age of diagnosis for those same conditions, in GeneDx’s 25-year history, had been 7 to 11 years. We’re now able to find them at birth.”From shortening the time to diagnosis to embedding genetic testing in general pediatrics, GeneDx is showing what it looks like to deliver on the promise of genomics in everyday medicine. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe
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About Mendelspod Podcast

Offering a front row seat to the Century of Biology, veteran podcast host Theral Timpson interviews the who's who in genomics and genomic medicine. www.mendelspod.com
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