Mendelspod Podcast

A discovery here. A paper there. An important paper gets passed over. A fortuitous encounter in a coffee shop among two ambitious scientists. A yogurt company just being a yogurt company. Science moves forward in fits and starts.By the time we read the headline in the paper, “breakthrough of the year,” it can have an inevitable quality about it. Then, in a few years, the historian comes and shows us just how random, messy, and, yes, how beautiful is the business of science. 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

At the beginning of the year, we were all holding our breath for the future of PacBio. And by all, I mean all. It seems everyone has been rooting for this sequencing technology company.And why? It’s simple. Pretty much everyone is in agreement that they have the highest quality reads on the market. 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

We speak directly with the Oracle today. It's Keith Robison, blogger at Omics Omics. Your All Knowingness, we ask, what has happened in the world of sequencing technology this year?“The companies may need a mulligan,” he quips and laughs. 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

Our October Review show is a Halloween special this year. Join us around the campfire amidst the sounds of howling wolves as Nathan, Laura, and Count Theracula recall some of their creepiest and spookiest times in the world of genomics.It's Mendelspod's Haunted House of the Genome. 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

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 or get access to bonus episodes, visit www.mendelspod.com/subscribe

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 other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

“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

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 unacceptable to have these different lives?" 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

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." 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

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 humans more aware of our scientific dependence. 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