There’s an urgency about Stephen Kingsmore. Which is not to say he’s in a rush. He’s the CEO of the Rady’s Children’s Genomics Institute. He and his team have two world records to their name for the incredible speed of diagnosing a rare disease using whole genome sequencing. The latest is 19.5 hours. Dr. Kingsmore feels they can even shave time off that. They’re shooting for a new record of somewhere around 12 hours. This is a public episode. If you'd like to discuss this with other subscribers ...
Oct 27, 2020•38 min
Diversity’s in the news these days. It's not just political correctness. Let’s look deeper into our field at how limited diversity in genetics is affecting all of us. If you are a member of a minority population and you go into a cancer clinic seeking help, some of the genetic tests on offer may not work for you because of your ethnic background. Not only is this wrong on a social justice level. It turns out it's just bad science. This is a public episode. If you'd like to discuss this with othe...
Oct 22, 2020•33 min
“In an era where we look at these surveys about trust and everything’s going off the cliff, everyone still trusts the NHS. It’s so deep in the British psyche." 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
Oct 08, 2020•41 min
We take a deep dive into a core genomics question that is somewhat philosophical today: “what is a disease, or disability?” This month we heard about a new experimental drug for dwarfism called vosoritide that raised questions for parents of dwarfism. If the drug could make their children taller, would they give it to them? Laura asks “can we put forth a medication for a condition saying those who take it are better off getting rid of it and not be saying those who are not getting it are unaccep...
Oct 02, 2020•55 min
From a career at NIH where he was Chief of the Genetic Disease Branch to academic Chief of Medical Genetics at UCSF to his current business title of Chief Medical Officer at InVitae, Bob Nussbaum has been a central figure in the field of genetic testing. A chief among chiefs. Today he gives our State of Genetic Testing: 2020 Edition. Our approach is to ask Bob to weigh into the recent debates that have come up this past year. And they can be summarized into one question. Even one word. "Expanded...
Sep 22, 2020•35 min
Synthetic biology was surging like perhaps no other bio-based industry when the pandemic struck, and it has had some unique weapons in its arsenal for aiding in the fight against COVID. There are the leading vaccine makers such as Moderna using synthetic biology, as well as antibody technology and CRISPR based testing. But many of the surging trends from the last year have only been made more urgent this year: small molecules, food tech, synthetic materials. Living with a pandemic is making huma...
Sep 15, 2020•33 min
First it was all about biomarkers. Then panels of biomarkers. But biology is complicated. Why does one patient respond to an immuno therapy when another which shares the same biomarker does not? Welcome to the age of spatial biology. Garry Nolan joins us today. He's a professor in the Department of Pathology at Stanford who's career has been a journey of seeing intracellular happenings more and more in context. Check out this cool analogy from a new paper his lab put out in Cell. This is a publi...
Sep 09, 2020•30 min
After a long break, the world's first genomics pundits are back for the season. And they are calm and collected in the face of the strorm on Pennsylvania Ave. We're sixty days from an election. How serious should we be taking politicization of the COVID vaccine, this radical shift on LDTs at the FDA? We also discuss some regular approvals and on rejection that sent the industry reeling with disappointment. Then it's on to Laura's, Nathan's, and Theral's picks for science of the month. Welcome ba...
Sep 01, 2020•45 min
We see this new ingredient appearing advertised and in products everywhere. On the billboards, in the new shops next to our favorite restaurant, on the counters at the barbershop and when we pick up our prescriptions at the pharmacy. C-B-D. It has to do with the ongoing revolution that’s happening around the country—around the world—regarding the deregulation of marijuana. But there’s another revolution that will change our consumption of cannabinoids. That of synthetic biology. This is a public...
Aug 26, 2020•27 min
Mary Norton is a perinatologist and clinical geneticist at UCSF who says that in the age when we are diagnosing ever more rare diseases, adding to the carrier screening panel can be a good thing, but it’s complicated. But it can be a good thing. But it’s complicated. 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...
Jun 16, 2020•29 min
Has this pandemic presented a unique moment for science in our history? Or is it just a strange and temporary moment of science fiction? Or both? Sci-fi author Kim Stanley Robinson (The Mars Trilogy, The Ministry of the Future) recently penned an essay in the New Yorker about how the virus has “changed our imaginations” and created a new “structure of feeling.” 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...
Jun 13, 2020•48 min
Happy summertime! We had positive news this month about an mRNA vaccine from Moderna. We also saw how during a pandemic, the process of science is especially abnormal. Nathan says let's be happy about the good news. Laura's ringing with alarm bells, sensing conflicts of interest right and left. 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...
Jun 01, 2020•55 min
Back before the world turned upside down, you know, all those years ago--early this February--a paper popped up on bioRxiv called, “Nanopore adaptive sequencing for mixed samples, whole exome capture and targeted panels." It’s an interesting paper. In the paper, the authors, led by Matt Loose from the DeepSeq lab at the University of Nottingham, describe a method unique to nanopore sequencing where one can do "selective sequencing of single molecules in real time by individually reversing the vo...
May 28, 2020•36 min
What is the key to getting a coronavirus vaccine? “Manufacturing,” says today’s guest, Jeff Stein of Cidara Therapeutics. Jeff joined us just last fall to talk about his company’s exciting new technology, an immunotherapy, that is a universal flu preventative and therapy. Yes, you read that right. A universal flu preventative. 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...
May 21, 2020•33 min
Our commentators, Nathan Pearson of Root and Laura Hercher of Sarah Laurence College, join us to look back on month two of the first modern pandemic. We begin with a scandal that rocked the Twitter science community and talk about how science itself may be having a big moment. Will this be a silver lining for this strange year? Then it’s on to antibody testing. What would a good antibody test need to do? And will there be tough ethical questions when some “have their immunity papers” and go back...
May 01, 2020•47 min
Why have diagnostic tests for the Coronavirus been slow on the scene? What have been the challenges for lab directors? Were they scientific? Were they regulatory? Were they scaling challenges? Are they still scaling challenges? Supply chain problems? Elaine Lyon worked for many years at the molecular genetics lab at ARUP at the University of Utah and is now the Clinical Services Lab Director at Hudson Alpha. In both of these jobs she has designed and overseen the design of many diagnostic tests....
Apr 14, 2020•30 min
After the virus reached American shores, was the FDA quick enough to allow companies and labs to develop their own tests without restrictive oversight? The question sparked a sweeping new bill in congress, the VALID Act that could overhaul FDA oversight of diagnostics altogether—something that has been clamored for for a generation. Turna Ray has been covering the FDA and diagnostics for GenomeWeb since 2006. She has recently written a piece on the new VALID Act that includes responses from vari...
Apr 07, 2020•31 min
Laura comes to us from her flat in New York, Nathan is stuck in San Diego, but they are here and ready to discuss what a month ago was a warning and now is a full blown world crisis. What have they faced personally? What are their thoughts on testing? And what are some of their early big picture reactions as to how this will all go down? We make some time for some Corona-free science as well. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus ep...
Apr 02, 2020•54 min
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. This is a public episode. If you'd like to discuss this with other subscribers or get ...
Mar 26, 2020•35 min
Lisa Alderson has been helping to build genetic testing companies for a while. In 2016 she co-founded her own company, Genome Medical, a tele-genomics firm to help patients and providers understand genetic testing results. Anyone in the genetic testing industry will know that Genome Medical’s offering addresses a burning need. As Lisa remarks in today’s show, genetics is complicated. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, v...
Mar 10, 2020•39 min
What do we actually know about the novel coronavirus, we ask our two monthly commentators at the outset of February’s review show. Then, speaking of pandemics, as Bernie fever sweeps America, we explore the charge that Medicare for All means an end to innovation. Laura gives an update on the status of the genetic counseling bill, and Nathan comes to us live from AGBT with highlights from Marco Island. This is a public episode. If you'd like to discuss this with other subscribers or get access to...
Feb 28, 2020•1 hr 2 min
“To be fully honest, I think some of these tests are scary tests. I’ve had the luxury of testing myself . . . some of this needs to have the physician and the genetic counselor involved.” That’s Pouria Sanae, a newcomer to our field via Yahoo and Helix. He’s also a Swede which gives him a fresh perspective on American genomic culture. Last month Pouria and his co-founders launched ixlayer, a new platform that integrates many of the players in the genomic medicine space: DTC companies, clinical l...
Feb 13, 2020•25 min
23andMe lays off over 100 employees. Illumina comes to the JP Morgan empty-handed. Has Precision Medicine seen it’s heyday already? Or are we gearing up for another wave of innovation? Nathan and Laura are again ready for the tough questions of genomics. We begin with the current spat between genetic counselors and the ACMG. Like, . . . huh? 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...
Jan 31, 2020•50 min
It's our special look back over the entire decade which has Nathan and Laura firing on all fours. Not only do we discover their genomic highlights of the last ten years--ups and downs-- they also pull out their special "future glasses" and come up with a provocative list for the next ten. You don't want to miss this. But first, we do cover December and that kerfuffle over the George Church dating app. And the genomics of income--really? Did you go for that? Theral, Nathan, and Laura for an exten...
Dec 27, 2019•1 hr 8 min
Our end-of-year special guest is one of the U.K.’s top genomicists, Ewan Birney, Co-Director of the European Bioinformatics Institute at EMBL. He is also the non-Executive Director for Genomics England. Ewan's perhaps best known for his work with the ENCODE consortium. 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...
Dec 17, 2019•50 min
The gene edited babies, Lulu and Nana, turn one. Laura Hercher says it feels like it’s been five years. Nathan says, “Happy Birthday.” Along with our genomics headline party this month, we also discuss a comment that came in from our last show which leads us to the question, can we discuss science without discussing politics? It’s Nathan, Laura and Theral for almost a full hour sifting through November’s news. This is a public episode. If you'd like to discuss this with other subscribers or get ...
Dec 02, 2019•51 min
Just in time for Black Friday, Ancestry.com has launched new health testing. Thanksgiving week (the company calls the shopping holidays the “Turkey Five”) has been kind to what is the largest DNA testing company in the world. Back in 2017, their ancestry test competed with the Instapot for Amazon’s top sellers on the biggest shopping day of the year. To date Ancestry has sold over 15 million DNA tests. This is a public episode. If you'd like to discuss this with other subscribers or get access t...
Nov 26, 2019•33 min
On November 25th, 2018, the world was shocked to find out a Chinese scientist, He Jiankui, had edited the germline of twin girls-and the twins had been born. Many in the scientific community remember that Sunday afternoon well as the story broke on MIT's Tech Review, "EXCLUSIVE: Chinese scientists are creating CRISPR babies." Today’s guest can even tell you what he had for dinner that Sunday and just what was his reaction. "Holy S**t!" This is a public episode. If you'd like to discuss this with...
Nov 22, 2019•44 min
Warning: the first part of this story can sound quite typical. Three co-founders with backgrounds in genomics and AI found a Stanford spinout. Their goal: to bring the tools of AI and computational modeling to unlock the medical secrets of the genome and deliver those to patients. They call this company, Jungla—Spanish for “jungle”—naming not only their adventure, but the whole problem. Then things get interesting. This is a public episode. If you'd like to discuss this with other subscribers or...
Nov 14, 2019•31 min
In 2013 Twist Bioscience was a newcomer to a market that most of us thought was saturated, cornered, commoditized—that of synthetic DNA. But Emily Leproust and her co-founders saw something different. They saw "a big market with unhappy customers.” Today, with a radically disruptive technology, they are market dominant. Twist is a publicly traded company whose stock has doubled already once since they IPOd last year. Imagine, a DNA synthesis company going public! And then seeing their stock perf...
Nov 07, 2019•34 min
