Mendelspod Podcast

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comChapters:0:00 Delivering on last year’s announcements8:50 Illumina14:25 Long reads25:50 PacBio vs Oxford Nanopore31:36 Element38:27 MGI45:47 The rise of proteomics51:20 What next?The end of the year approaches, and we look back today on the state of DNA sequencing with two of our return champions, Shawn Baker, genomics consultant, and…

Chapters:0:00   State of the field: reviewing ICoNS conference22:20 What evidence is enough?Today, we’re joined by a panel of four guests who have all attended the recent International Conference on Newborn Sequencing held at the Royal Institution in London.  This discussion serves as the second part in a series we are co-producing with GenomeWeb that began with last month’s panel.  At the conference, researchers representing 12 newborn sequencing research programs in the US, the UK, Europe, Australia, and the Middle East discussed their progress to date and future plans.   It’s our good fortune to hear about the conference and get some thoughts on the field going forward.  Julia Karow is the Managing Editor at GenomeWeb, who tracks trends in next-gen sequencing for research and clinical applications.Robert Green is a physician-scientist who directs the Genomes2People Research Program in translational genomics and health outcomes.  He also co-chairs the International Consortium on Newborn Sequencing, the group which hosted the conference.Wendy Chung is Chair of Pediatrics in Medicine at Boston Children’s Hospital.  She directs one of the largest newborn sequencing studies,  called the Guardian Study.James Buchanan is a Senior Lecturer in Health Economics at Queen Mary University in London.  He does research into the health economics of precision medicine and genetic testing, including newborn screening. 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.comChapters:0:00 Precision oncology is standard of care13:50 Culmination Bio23:25 Hopeful about early cancer screening25:45 Biggest challenge for the field?When Lincoln Nadauld began Precision Genomics at Utah-based Intermountain Healthcare, he told the administrators that precision oncology is coming and will be standard of care. He urged them to d…

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comChapters:0:00 What are transcription factors?7:00 The MARMOT platform11:22 In the ’90s, people thought kinases were undruggable19:00 Where’s the company at today?We begin today’s show with definitions.  What are transcription factors?  What is functional proteomics?  And what is meant by “undruggable?"According to a study in Nature from las…

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comChapters:0:00 Attending this year’s Human Proteome Organization (HUPO) conference4:40 Mass spec vs. sequencing8:12 How does the Orbitrap Astral fit into the market?12:55 Customer applicationsThermo Fisher Scientific is a name synonymous with life science tools.  They have been at the vanguard of every important trend in our field for decades.…

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comChapters:0:00 What does treatment look like?7:25 Light treatment has been approved for years20:10 Could this be a primary therapy for all cancers?25:05 Challenges?We often cover new therapies for cancer.  They are usually derived from “chemistry."  But what about using “physics” in a non-invasive way for treatment?  A new company named SonA…

Chapters:0:00  “It’s a magical time.”9:55 Tracking low-concentration proteins in real-time19:20 What next?24:40 Proteins act in community29:30 Challenges ahead?Many new drugs and clinical diagnostics are being derived from proteins. Today we take our proteomics series into the clinic with Jenny Van Eyk from Cedars Sinai Hospital in Los Angeles and Daniel Hornburg of the proteomics company, Seer. Jenny works at that sweet spot with one foot in the clinic and the other in research, specifically tool development.  The two talk about the new ability made possible by Seer’s Proteograph to look at proteins in real-time, to capture not only the biomarker but the activity of the biomarker.  They talk of the importance of being able to see the concerted effort of multiple proteins in developing clinical assays.Jenny highlights her work with the GLP1 peptide, which is key to the new weight loss and diabetes drugs.   She says there are two main ways that proteins regulate the body.  One is through degradation and the other is to be sequestered by other proteins.  “Sometimes only a small portion of the proteins are active.  And that’s what we need to know,”  says Jenny.  "Only by understanding what’s really close to the biology, close to the disease can we get it right."Today’s show is made free through the generous support of Seer. For decades, a limiting factor in proteomics research has been the inability to access the proteome in ways necessary to survey and understand its diversity. So, Seer created their new Proteograph(TM) to provide a more transformative lens of the proteome. 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

Today’s show is made free by the generous support of Twist Bioscience. Twist works in service of people changing the world for the better in fields such as medicine, agriculture, industrial chemicals, and data storage. Their unique silicon-based DNA synthesis platform provides precision that is otherwise unavailable. Check out their products at www.twistbioscience.com. And join them as they write the future of science.Chapters:0:00 Pet dogs have complex genetics and phenotypic data8:00 What is the primary interest of pet owners?16:00 Breeds are relatively new—Victorian era new25:53 Findings that relate to human genetics34:00 Future goalsSummary:Elinor Karlsson began studying pet genetics when doing her PhD.  Today she directs the largest pet dog genetics databases and citizen science projects, Darwin’s Ark (www.darwinsark.org). Elinor is a Professor at UMass Chan and the Broad Institute.Why dogs?  Well, she works specifically with pet dogs who are tied to humans.  Dog owners love learning about their dogs--breed, behavior, anything—almost as much as they love sharing about them.  This opens up an opportunity for researchers to study an animal with complex genetics which also has tons of phenotypic data recorded. So what is Elinor able to tell these pet-loving owners?  How is the project improving dog medicine?  And what is canine genetics teaching us about us?Mendelspod is a reader-supported publication. To receive new posts and support our work, consider becoming a free or paid subscriber. 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.comChapters:0:00 World’s longest oligo8:45 Why is it difficult to synthesize long DNA?12:00 Proprietary TdT conjugate16:00 A billion-dollar market24:20 The computation model and its challenges28:35 More customers using generative AIMendelspod is now reader supported. Please consider upgrading to a paid subscription for the price of a couple cof…

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comChapters:0:00 Novel Cas enzymes help overcome CRISPR challenges11:37 New pipeline of therapies will go after novel targets14:52 How does the new platform open up possibilities for new diagnostics?21:05 What risks do you think about?26:47 What are the company’s two-year goals?31:07 On the possibilitiesCRISPR technology is enabling a new generation …