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Chapters: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.

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Chapters: 0:00 David on the state of the field today7:25 Robin: Does the screened baby do better than the non-screened baby?12:25 Paul:  We have to do the studies.  The time is now.19:22 David on the current plans at Genomics England25:00 What does Robin think of the GUARDIAN study?29:00 Paul on incomplete penetrance31:22 We’re not looking for treatable conditions.  We’re looking for children who need to be treated.41:10 Ethical concernsToday’s show is a co-production with GenomeWeb.As genomic medicine takes hold in the clinic, there are ever more reasons to do whole genome sequencing at birth as a screen for all babies.  Newborn screening tests have been common clinical practice since the 1960s and the development of the single phenylketonuria (PKU) test.   The screen has grown to include other conditions, with a bump from mass spec technology in the 80s.  In fact, it has been new technology that has enabled and enhanced screening all along.  Today we stand on a precipice in the field.  Should whole genome sequencing at birth become the new standard of care screen?  As our first panelist asks, should we continue the slow process of adding one condition at a time, or take a larger leap forward?  With help from our partners at GenomeWeb, we have assembled a terrific panel of guests to take on these questions.David Bick is the Principal Clinician for the Newborn Genomes Programme and the former Faculty Investigator and Chief Medical Officer at HudsonAlpha.Robin Lachmann is a consultant in adult inherited metabolic disease at the University College London Hospitals.   He also serves as the national specialty advisor for metabolic disorders for England’s National Health Service.Paul Kruszka is the Chief Medical Officer at GeneDx, a diagnostics lab that has partnered with the biggest study for newborn sequencing in the U.S. called the GUARDIAN study.

David was recruited to the U.K. to create their newborn sequencing program.   He says we have now identified over 700 conditions and advocates for whole genome screening.  Robin, as David tells us in the show, serves as one of the NHS’s sentinels for the introduction of new technologies into the clinic.   He brings up the thorny questions.  Does the whole genome screened child do better than one not screened?  Paul says we have to do the studies, and the time is now. What are your thoughts?  We welcome your comments.

Please note: You can join all three of today’s guests at the International Conference on Newborn Sequencing this October 5th-6th at the Royal Institute in London.

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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

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Chapters:

0:00 World’s longest oligo

8:45 Why is it difficult to synthesize long DNA?

12:00 Proprietary TdT conjugate

16:00 A billion-dollar market

24:20 The computation model and its challenges

28:35 More customers using generative AI

Mendelspod is now reader supported. Please consider upgrading to a paid subscription for the price of a couple cof…

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Chapters: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 …

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0:00 Latest paper on multi-omics microsampling6:30 Is it useful?  Two scenarios13:00 How might entrepreneurs bring this to healthcare?18:15 How do you convince physicians?25:48 Are you a reductionist?31:00 Impact of generative AI38:15 Thoughts on the renaissance in proteomics

We open our 13th season here at Mendelspod with guest, Mike Snyder, S…

Last month Dandelion Health, a healthcare data platform specializing in artificial intelligence and precision analytics, launched a public service to evaluate racial bias in health algorithms.  The company is partnered with three major healthcare providers in the U.S.

Most of the leaders of genomic medicine that we speak with say we are headed toward genome sequencing at birth.  Last year a first-of-its-kind study called the GUARDIAN began piloting just such medicine.  The ambitious multi-year study based in New York State is the brainchild of a titan in the field, Wendy Chung.

Ten years ago this week, the Supreme Court unanimously ruled that genes could not be patented.

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