Mendelspod Podcast

In today’s show, we talk with Kyle Fahr, the VP and Distinguished Scientist leading Illumina’s Artificial Intelligence Lab."We lack a way of training genomics AI as readily as you would for natural language processing, says Fahr.  "There are vast amounts of data, but there are no labels, no supervision.  One of the most powerful tools that we’ve found is using clues from natural selection.Fahr says the company began the AI lab seven years ago when deep learning took off. Two of the team’s AI algorithms, PrimateAI-3D and SpliceAI, published in Cell and Nature Genetics, were among the first examples of deep learning algorithms in genomics to become widely used by clinical labs and researchers in interpreting variants of unknown significance.  We take a close look at Illumina’s work in AI and delve into the long-term impact of AI on genomics. 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

Patrick Short, CEO of Sano Genetics, discusses overcoming challenges in genetic research, emphasizing accessibility and pre-symptomatic treatments for conditions like ALS. They also explore early detection strategies using biomarkers for diseases like Alzheimer's and Braca mutations.

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comThrough 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.

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comA  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…

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. 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

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." 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

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comToday, 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.

Jennifer Wipf of Ginkgo Bioworks discusses the revolutionary potential of RNA therapeutics and cell therapies in medicine. Ginkgo Bioworks aims to make engineering biology easier through automation and data fusion. The discussion delves into the challenges and promises of accessing the cell for therapeutics, as well as Ginkgo's recent acquisitions to enhance its AI capabilities.

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comChapters:0:00 Number one unmet medical need for dogs6:25 Using “extra label” for cross species12:57 Ideal for understanding human cancers21:25 Playing catch-up with human medicine28:04 1,000 pet clinic customersPrecision medicine for dogs?— as in tumor profiling for the right therapies to treat man’s best friends at the right time? Yes, that’s right. …

There’s a new genome editing company that everyone is talking about this year.  Tome Biosciences came out of stealth in December, claiming the ability to insert DNA sequences of any size at any location across in vivo and ex vivo modalities. Their website says they’re “taking us into the final chapter of medicine.”Tome’s CEO, Rahul Kakkar, joins us today on the program.  He’s a physician-scientist (cardiology) who has previously led a couple of biotech companies, Pandion Therapeutics and Corvidia Therapeutics, through initial funding and acquisition.  Rahul says that even though we’ve seen incredible breakthroughs in the gene therapy arena, all of the current editing technologies are “profoundly limited.”  That includes the technology for the first CRISPR-based drug approval, Casgevy.“Gene therapy today is putting a gene into a cell that has no relationship to the genome itself.  It’s quite unrefined.  From a clinical perspective, their impact is limited because their technology is limited.”Why so limited, and what is this great advancement in editing technology that everyone is talking about?  Rahul says the tech is able to “reprogram” a cell.What are the history and current state of the company and this new technology?  How are they dealing with the infamous “off-target effects?”  And what is the overall opportunity?Rahul talks in grand terms.  He says there is a need for genomic-based therapies if we’re going to move medicine away from treating to curing disease.   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