Mendelspod Podcast

Exploring the impact of long reads at scale in sequencing technology. Discussing the decision between long and short reads. Plans for future instruments and insights into competing technologies.

Why aren’t more folks receiving genetic testing?In a study published in JAMA last year, Stanford cancer researcher Alison Kurian found a surprising gap between those who need genetic testing and those who receive it.  Among more than a million patients with cancer, only 6.8% underwent germline testing.Today, we begin a new series exploring this gap in testing with Robert Michel.  He's the Editor-in-Chief at The Dark Report, reporting on the laboratory industry since 1996.   Robert says the problem is multi-faceted and argues that the leading cause is that it takes years for physicians to learn about a new area of medicine.“Factor number one is simply the speed of genetic science,” says Robert.  "You’ve got to train the physician and for them to be able to incorporate genetics in their practice.  It can take years for the average practitioner.  Part two,” he says, "is reimbursement.”We spend the bulk of the interview discussing the role of pathologists in genetic testing, who he refers to as "the guardians of the medical purse."Robert also puts on the leading conference in the lab testing industry, the Executive War College Conference on Diagnostics, Clinical Laboratory, and Pathology Management.  The conference for 2024 is coming up from April 30th to May 2nd in New Orleans. 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

Batten disease is a group of neurodegenerative lysosomal storage disorders that result from pathogenic variants in one of 13 CLN genes. Collectively, Batten disease affects approximately 1 in 100,000 individuals worldwide, making it the most common pediatric neurodegenerative disorder. The most common form of Batten Disease, CLN3 disease, is a rare and fatal autosomal recessive disorder caused by mutations in CLN3. Individuals with CLN3 disease typically experience vision loss in early childhood, followed by seizures, motor and cognitive decline, and premature death by the third decade of life. Importantly, despite decades of intense research, specific biomarkers of disease status have not been reported, hindering the clinical development of therapies.Today, two researchers join us to talk about how their use of new proteomics tools has pushed their biomarker research forward in novel ways. Jon Brudvig is the Director of Discovery Research and Gene Therapy at Amicus Therapeutics, where he leads biomarker discovery in neurogenerative disease.  He is also an Assistant Professor in Pediatrics at the University of South Dakota. Bruce Wilcox is the Chief Technology Officer at PrognomiQ which is focused on early cancer detection and treatment. “Proteomics technology and the enthusiasm for it are advancing rapidly.  Proteomics is at the stage where it is translating to tools that will help physicians and patients,” says Bruce.   "It’s a lot of fun to talk about what we work on, not just from a research standpoint, but for the impact that is coming from this work." 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

After ten years, the human brain mapping project has achieved some major milestones, says Tom Nowakowski, a researcher at UCSF, on today’s program.  He says that mapping the brain is a “moon shot” easily on par with the Human Genome Project.So much of biology is basic quantification.  Brain scientists are beginning to quantify how many kinds of brain cells there are.  They are learning more about the function of various cells such as glial cells..  And they are developing a common language with each other.  A few years ago, if you put two brain scientists in a room together, they would not know how to speak to each other.One of the major technologies that have enabled this new quantification and characterization of the human brain is spatial genomics. Tom and other scientists have learned that there are 5,000 transcriptomic clusters that they associate with cell type. '“If you told me ten years ago when I was finishing my Ph.D. that one day we’d be making real progress on neurological and neuropsychiatric disorders without having to rely on a mouse model.  I would think it was unthinkable.  Here we are; we finally have technologies where you don’t need transgenic mouse models to make progress.  That is just terribly exciting.” 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

Karen Tumulty, a political writer for the Washington Post, was diagnosed with multiple myeloma. She was told she had five years to live.  Then she went to book club with friends. On the way home she came out about her diagnosis—and that changed her life.  Someone in the car happened to be the President of the Personalized Medicine Coalition, Ed Abrahams.  He made a referral and that led to better treatment and better survival. Karen’s story, along with that of her brother, is a must-listen for everyone involved in healthcare.  How does Karen’s story line up with the industry’s stories we tell ourselves? Does she think that the tale of precision medicine is getting out there?“What blew me away at the recent conference,” she says, “was that so many amazing medical advances that I was thinking were way over the horizon are here.”Are they really here, if people have to be in the right book club to hear about them? 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.comFun fact:  we are composed of 90% bacterial cells and 10% human cells.  Surely, the company that begins to turn that knowledge into health products will be the next billion-dollar startup. Pendulum Therapeutics is doing just that.  Started in 2012, the company now boasts a full product line of probiotics that are not your typical probiotics.  In 2020, the company released a scientific study showing that their glucose control product lowered blood glucose spikes by 30%.“It’s the first microbiome product that has shown that kind of efficacy,” says Pendulum CEO Colleen Cutcliffe.  “We did a placebo-controlled double-blind, randomized trial that showed that compared to placebo, people who were on this formulation could see their A1C go down by 0.6 points, which can be the difference between having diabetes or not.”Colleen is a return champion here on the show, and it’s great to see the company raising real money and pioneering the microbiome space with credibility.  Will naturally occurring probiotics become the next breakthrough in therapeutics?  We’re talking about the "safety of a probiotic with the efficacy of a drug."

This is a free preview of a paid episode. To hear more, visit www.mendelspod.com"We can now begin to look at disease before it happens,” says today’s guest, Todd Druley.  He’s the Chief Medical Officer at Mission Bio who has been offering the world’s first single cell and multi-omics instrument. 

This month, the FDA approved the first CRISPR-based gene therapy called Casgevy (pronounced with a soft g). It’s a one-and-done treatment for sickle cell disease and is being hailed as major step forward in medicine. Joining us to discuss this breakthrough is our return champion, Kevin Davies, author of Editing Humanity: The CRISPR Revolution and the New Era of Genome Editing and Executive Editor of the CRISPR Journal and GEN Biotechnology.Kevin takes us into the science of the new gene therapy and what it means for patients. He also gives a captivating history of sickle cell disease itself. How will sickle cell patients afford the $2.2 million price list? How has CRISPR as a tool been evolving this year?  What other areas are heating up for gene therapy?  And we do a little catch-up on a certain scandal around genome editing.  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.comMany of our shows this year have explored a new wave of proteomics tools and research.  So today, we wanted to get a snapshot of the field of proteomics, and to do that, we turned to John Yates III, Ernest W. Hahn Professor at The Scripps Research Institute.  John was on the proteomics side of the famous Lee Hood lab in the 1980s.  The most exciting work to come out of Hood’s lab was the first automated DNA sequencer commercialized by Applied Biosystems and led by Mike Hunkapillar, also from the lab.

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comThis month, a new philosophy of biology series premiers on PBS hosted by Robert Lawrence Kuhn.  The series will go for thirteen episodes and includes over 250 interview clips with some of the world’s leading biologists and philosophers, including Richard Dawkins, Terrence Deacon, Peter Godfrey Smith, and Samir Okasha. Show titles include: Why Philosophy of Biology?, Philosophy of Units/Levels of Natural Selection, and Philosophy of Sex and Gender.Robert joins us today to preview the series, his first in 25 years on biology.  At the heart of the interview is a discussion of reductionism and emergence,  a familiar subject for this show.