Commentators Nathan Pearson and Laura Hercher join us to look back on February’s genomics headlines. Beginning this time with science, Nathan says we should be expecting great things from new in-situ sequencing. Laura found it encouraging that the National Academy of Sciences shifted to be more in support of genome editing. Theral asks what life forms are left to sequence for the Earth BioGenome Project? This is a public episode. If you'd like to discuss this with other subscribers or get access...
Mar 01, 2017•24 min
First of all, watch the video below. A Santa Cruz company is now previewing a nanopore device that could be a major disruptor in molecular testing. The device is the size of a glucometer and could take all kinds of testing—perhaps someday even cancer-tracking liquid biopsies—into the home with its ease of use and ability to work with thousands of different assays. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod....
Feb 20, 2017•19 min
Freeman Dyson famously said, “the great advances in science usually result from new tools rather than from new doctrine.” Today we talk with Mark Fischer-Colbrie, CEO of Labcyte, a company which has made some waves--literally-- in the life sciences by changing a very fundamental laboratory procedure: liquid transfer. For some years now, Labcyte has been selling machines that move liquid around with sound. By eliminating the need for pipette tips and other “solid” surfaces, the machines guarantee...
Feb 13, 2017•22 min
Moray Campbell was for all intents and purposes an accomplished and successful cancer biologist at the renowned Roswell Park Cancer Center. Then one day he woke up and realized he was becoming irrelevant. He was a traditionally trained wet lab biologist who was getting left behind by computer science. Any scientist must keep up with their field, but this was different. A few conferences and journals--reading the news everyday was not going to be enough. Facing reality, Moray enrolled in a bioinf...
Feb 09, 2017•26 min
Euan Ashley is one of the big names in genomic medicine that has been missing from our guest list. We’re happy to correct that today. In 2010, he led the team who did the first clinical interpretation of a human genome--that of his Stanford colleague, Steve Quake. Since then Euan, an MD PhD, has been driving to make the use of new genomic tools and discoveries a routine part of medicine at Stanford, particularly in his own discipline of cardiology. A regular speaker on the conference circuit, Eu...
Feb 07, 2017•26 min
As we look back at January’s headlines with our two regular commentators, Nathan and Laura, the question becomes: How much should we ignore the fire raging across America to focus on the science? Speaking of Trump's new immigration order and the very real threat of a "brain drain," Nathan tells of his own personal time doing research in Iran, commending scientists there and the many Iranian scientists here. But he says Iran has already announced they're going to retaliate. This is a public episo...
Feb 02, 2017•20 min
Why are there no viable psychiatric genetic tests, we ask today’s guest. Rob Philibert is a geneticist and psychiatrist working at the University of Iowa. He admits at the outset of today’s interview that the field of psychiatric genetics is in a “quandary.” “The results are not matching the hype,” he says. 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, 2017•21 min
Podcast brought to you by: Slone Partners - Providing the leaders that shape the clinical trials space. About six years ago there was a wave of genome interpretation startups getting their first rounds of funding. One of them was Personalis, a company founded by a well known group of Stanford geneticists and bioinformaticians. 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 24, 2017•20 min
Mark Akeson has been working on nanopore sequencing at UC Santa Cruz’s biophysics lab for twenty years. Up until the past few years with the launch of Oxford Nanopore’s sequencers, that work was mostly the methodical toil of the quiet inventor. Today it is quite ordinary to see a sequencer the size of your wallet being taken out into the field for DNA work. But for years, the naysayers dominated. “Back in the day, the skeptics outnumbered the proponents 99 to 1,” Mark says in today’s show. This ...
Jan 18, 2017•24 min
Each year at this time, sequencing tools leader, Illumina, generates another round of sequencing buzz in the industry, this year by announcing the $100 genome is around the corner with their latest boxes. But more and more, people are asking just what they will get with that $100. Indeed, what do they get today with a $1,500 genome? Illumina sells short read sequencing technology which is unable to characterize much of the human genome, particularly complex regions which are responsible for many...
Jan 12, 2017•28 min
From new CRISPR trials in humans to mitochondrial transfer therapy, from the spinout by Illumina of two new genomics health companies to the complete and utter failure of Theranos, from the approval by the FDA of GM mosquitos to the FDA giving up on LDT regulation as a result of the election, the genomics headlines of 2016 didn’t fail to dazzle, deliver, and disappoint. Hear which stories our regular commentators, Laura Hercher and Nathan Pearson, chose as their top and also most underreported o...
Dec 28, 2016•25 min
Each year at this time we bring on a guest who is somewhat out of the way of our normal lineup, for example, a science fiction writer or a philosopher. Today Theral interviews a law professor who loves to philosophize and write about the impact of biotechnology on our lives now and in the near future. His newest book out this year, “The End of Sex and the Future of Human Reproduction,” is another comprehensive and provocative example of what has made Stanford’s Hank Greely such an in-demand spea...
Dec 22, 2016•32 min
Back in 2009 at the annual AGBT meeting for sequencing, Marco Marra presented one of the first cases of cancer treatment using whole genome sequencing. We caught up with Marco at his office at the University of British Columbia where he heads the Department of Medical Genetics. Marco also directs the Genome Sciences Center which is part of a very special organization called the BC Cancer Agency. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus...
Dec 06, 2016•23 min
While everyone is asking what will become of Obamacare, we ask our regular commentators, Nathan Pearson and Laura Hercher, specifically about genomics and medicine. Nathan begins by saying that data scientists everywhere should be humbled. Does the failure to predict the election send out warnings about big data predictions in 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...
Dec 01, 2016•23 min
Today Ethan Perlstein joins us on the program for a third time. His path as a ‘rogue scientist’ has become a bit of a case study here at Mendelspod as we look into alternate paths for scientists and for drug development. 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
Nov 29, 2016•25 min
When we talk precision medicine on Mendelspod, we’re usually talking about oncology. But today we shift our focus to diabetes. Raghu Mirmira is an MD PhD at Indiana University who is working on a panel of biomarkers that would predict Type 1 diabetes. That’s right. Predict. Having already found a DNA biomarker candidate which detects dying beta cells using the new technology of digital PCR, Raghu is now working to improve the panel with other metabolites. This is a public episode. If you'd like ...
Nov 17, 2016•16 min
Let’s take a break from the US and head over to the UK, home of the world’s largest single disease medical research charity. Cancer Research UK (CRUK) raises five hundred million pounds a year for research and drug discovery into any and all of the two hundred plus types of cancer. The charity is extremely well integrated into U.K. culture, and uniquely English in that the donations are mostly small and come from all corners of society. A third of CRUK’s funding comes from donations averaging £1...
Nov 15, 2016•24 min
Are you lactose tolerant? If you’re of Northern European ancestry this is because of a stretch of DNA in a gene enhancer that developed some 9,000 years ago. That's the same time Northern Europeans began domesticating cattle for milk. If you’re of African ancestry, you may have one of three mutations which appeared independently of the European mutation--and of each other--about 6,000 years ago, again when dairying began. This is a public episode. If you'd like to discuss this with other subscri...
Nov 03, 2016•29 min
Today’s show was recorded on Halloween, which now feels so yesterday. Forgive us for some spookiness. What doesn’t feel so yesterday is the launch this past month of Helix, a company spun out of Illumina that aims to add exomes to the lineup of direct-to-consumer testing. Nathan points out their model for delivering data incrementally through various apps. Laura questions how Helix will vet the apps. This is a public episode. If you'd like to discuss this with other subscribers or get access to ...
Nov 01, 2016•20 min
There’s a basic assumption in our field today that has been around for some time. We think of medicine as on a direct and even continuum with science. That discoveries in genomics, for example, will lead directly to breakthroughs in medicine. But the breakthroughs on the medical side have been much more rare to date than those coming from the study of biology and genomics. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.me...
Oct 25, 2016•27 min
As we get closer to the election and the end of 2016, the debate over LDT regulation has gone quiet. At this time last year, there was one hearing after another, first in the Senate, then in the House. The FDA’s Jeffrey Shuren was called before congress and drilled over the nuances of the guidance as well as asked when it would be released. He said, in the first half of 2016. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www...
Oct 19, 2016•22 min
A couple months back, we reported on a study showing that genetic tests for an inherited heart disorder were more likely to come back with false positive results for black Americans than for whites. The study provoked many in our industry to urge scientists to incorporate more ethnic diversity in their studies. So far, biology has been too Eurocentric—the databases are implicitly racist, they argue. This is a public episode. If you'd like to discuss this with other subscribers or get access to b...
Oct 11, 2016•25 min
There were many headlines this past week heralding the first three parent baby to be born. But in fact, as our commentators point out in today’s look back on last month’s genomics news, three parent babies have been around for some time. So why are couples going to Mexico for mitochondrial transfer today? Why is it not legal in the U.S.? 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 04, 2016•22 min
There is tons of life science journalism. Our coffee tables and inboxes fill up each week with that quarterly or that daily. We sift through headlines and product advertisements to assess what’s going on in our industry. It’s our job to know. In this age of several-times-per-day newsletters and 24 hrs a day Twitter, we catch what we can. And occasionally, we come across a carefully written piece or a well done interview, and we take a moment to realize with some awe the history that is being mad...
Sep 27, 2016•24 min
Most of the time, when we talk about personalized medicine, it’s not that personalized. What we’re really talking about is population-based medicine. However, there is a growing number of clinical/research groups around the world, including the folks at the Finnish Institute for Molecular Medicine (FIMM) who are combining an older method of functional profiling with new molecular profiling to come up with what the Fins call 'Individualized Systems Medicine.' This is a public episode. If you'd li...
Sep 22, 2016•19 min
The history of science is also a history of toolmaking. And nowhere is this more true than in modern biology. New instruments in the lab allow biologists additional modes of discovery, new levels of quantification, and the opportunity to pursue new and old questions with more data. 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...
Sep 20, 2016•19 min
For the next installment of our series on genetic counseling, we’re joined by Erica Ramos. She’s the president-elect of the National Society of Genetic Counselors and was the second genetic counselor hired at Illumina where she’s been for four years. Illumina now has 15 genetic counselors. Erica has been a trail blazer throughout her career. Before joining Illumina, she was the first ‘cancer counselor’ in the city of Las Vegas, Nevada. Her time at Illumina has been a prime example of the evolvin...
Sep 14, 2016•24 min
It’s the end of summer and end of another month. Joining us to discuss the genomics headlines of August are Laura Hercher and Nathan Pearson. A recent study demonstrating that breast cancer patients with low genomic risk may not need chemotherapy is just what precision medicine is all about, isn’t it? Theral and Laura think the study is a big deal. Nathan’s not so sure. Nathan is convinced though that Eurocentric studies have implicit racism. Laura agrees, saying the lack of racial diversity in ...
Sep 01, 2016•18 min
Today we feature a pharma company that has been around for some time but recently getting more media coverage for the impressive scale of their new genetic center. Regeneron Pharmaceuticals, insiders joke, has been an overnight success that took 25 years. One might think every big pharma company has their own genetic center for internal R & D. But today’s guest, Jeff Reid, Executive Director of Genome Informatics at the Regeneron Genetic Center (RGC), says that actually deep genetic research...
Aug 18, 2016•25 min
We often hear at conferences that there are too few genetic counselors. And that this bottleneck is constraining the delivery and promise of genomic medicine. Is this true? It is 100% true, says Laura Hercher of Sarah Lawrence College in the second part of our interview on genetic counseling. “We graduate just under 300 genetic counselors a year. And last year at our annual meeting [National Society of Genetic Counselors], there were posted over 600 jobs. We’re producing jobs at a much greater r...
Jul 30, 2016•17 min