More than one in two hundred people have an inherited form of heart disease.   But most don’t know it.

Often on Mendelspod we talk about cancer genomics, but in the area of cardio, too, genetic testing can save lives.

Amy Sturm is the Director of Genomic Counseling and Screening Program at Geisinger Health Systems.  There she has led the effort to return the results of cardio genetic tests to over 1,000 patients. 

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90% Go Undiagnosed, Says Geisinger’s Amy Sturm of FH Patients

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. 

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Through its Center for Personalized Medicine, the University of Colorado Health offers its 2.2 million patients some of the country's most advanced precision medicine initiatives.

Systemwide Implementation of Precision Medicine at UCHealth with David Kao

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A  new spatial biology company is promising to shake up the field. Last month, Curio Bioscience launched a new technology to early access customers that provides transcriptomic spatial data without the need to b…

Is this New Tech a Game Changer for Spatial Biology?

John Cumbers is back on the show to preview the annual SynBioBeta, the leading global conference for the synthetic biology crowd. This year’s show includes 18 tracks on AI, space, longevity, and DNA synthesis. Speakers will include Stephen Wolfram and Stephen Quake, who will discuss large language models and biology. While 2024 saw a total investment of over $6 billion (not as high as the pandemic year of 2021), John says the new technologies and startups keep coming. "We’re seeing just a ton of new entrepreneurs coming out of graduate and undergraduate programs and starting companies.” John is the founder and CEO of SynBioBeta which takes place May 6-9th in the San Jose Convention Center. 

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Synthetic Biology in 2024 with John Cumbers

Most of the news coming from Illumina has had to do with their leadership in the sequencing instrument space. What is lesser known is that they offer an end-to-end solution for the clinical lab, including variant calling and genome interpretation.In this podcast, we’re joined by Sam Strom, Principal Scientist at Illumina and a certified Clinical Lab Director.  Sam comes to Illumina from the clinical testing side; for example, he’s co-chair for the expert curation panel for Parkinson’s Disease and sits on a working group at ClinGen.In the interview, Sam addresses two of the big challenges in clinical sequencing, which are variant calling and variant interpretation. Sam says Illumina has created its own multi-sample genomic reference and is also making use of artificial intelligence to improve variant calling. He also shares how Illumina supports scaling variant interpretation for genomes and other assays with an AI and automation comprehensive solution, enabling high-quality genetic testing workflows to reach next level accessibility.“I think we’re going to see more “lights out” testing where there really isn’t an interpretation component to the test.   It’s a pure technical test.  It has certain limitations.  But it gets you 99.9% of the way there.  The technology is ready." 

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Illumina Scales Variant Calling and Genome Interpretation to Improve Gap in Genetic Testing with Sam Strom

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Today, we feature a new DNA synthesis company out of Sweden that is making a name with long, single-stranded DNA at scale. How long? Over 10,000 bases. Why single-stranded vs. genes? And what is meant by scale?According to Cosimo Ducani, CEO and co-founder of Moligo Technologies, the business of making DNA is just getting started.  So much for thinking it was a mature business in the early 2000s when Integrated DNA Technologies (IDT) dominated the market.

90% Go Undiagnosed, Says Geisinger’s Amy Sturm of FH Patients

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