Mendelspod Podcast

You’re a mother, and life is typical. You’re also a pediatrician. Then one day you hear that your daughter is autistic. OK. Then you get the news that, no, it’s not autism but a very rare disease called Sanfilippo Syndrome. From your training as a pediatrician you quickly think back and remember the MPS rare diseases, but nothing else prepares you for what’s ahead. This is a public episode. If you...

There are hundreds of pregnancy apps available. So what is unique about the NIH’s new crowdsourcing project called PregSource? “We think PregSource is different because we offer the security and reliability of having been developed at the NIH with the participation of well regarded organizations. We’ve developed the content with expert input at every stage. Their are no ads at PregSource. And, of...

Today we engage in a rare discussion between a startup founder who is going beyond sequencing and working directly with cancer patient cells in 3D cultures and with one of his customers, the husband of a cancer patient. Meet Christian Regenbrecht, the CEO of CPO or Cellular Phenomics and Oncology based in Berlin, Germany and Janos Flosser, a fund manager who invests in technology from Copenhagen,...

It’s the question of the moment Are we living in the age of AI? Or is it still just hype? When it comes to the latest research in immuno therapy, computational modeling is helping to answer key open questions, such as which patients might respond to which drugs. "If you were to ask me last year about deep learning, I would probably say, aaah, most of the algorithms that are published are not reall...

At the end of the year, we like to speak with a journalist who covers genetics about some of their stories. 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

Designer babies. The term means many things to many people. To some it means kids only dressed in Gucci. Some say that by doing pre-implantation genetic screening, we are already living in the age of designer babies. Others have been holding out for that time when humans edit their own germline offering the new progeny not only disease repair, but also enhancements. It's also argued there’s a thir...

A one month old baby is admitted to a hospital with fever. This is cause for serious alarm. The child is put on broad spectrum antibiotics. The infected area is drained and a culture run to try to identify the pathogen. The cultures come back negative, the pathogen not identified. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit...

Sara Radcliffe can be happy--extra happy. She is the CEO of the California Life Sciences Association at a time when the state is breaking records, beating out every other state in category after category. Today Sara discusses a new report the organization has released along with PWC detailing our sector’s explosive growth. Jobs: check. Wages and revenue: check. VC funding: check. NIH funding: chec...

What a week! And a great time to have on our expert contributors, genomicist Nathan Pearson and genetic counselor Laura Hercher, to talk about what is reportedly a first in history: babies born with a gene altered. They'll be called Lulu and Nana. So just how pissed, scared, shocked, and curious are we after three days? This is a public episode. If you'd like to discuss this with other subscribers...

If Mendelspod had an annual Product of the Year award, we'd certainly be liking for 2018 the one featured today, a digital genetic counseling product for direct-to-consumer genetic testing. Hats are off to Ellen Matloff, a genetic counselor formerly at Yale who saw the DTC boom coming a few years ago, busted out of academia, started My Gene Counsel, and last month launched her first digital produc...

The MPS Society is a rare organization. Not just because it is an umbrella for the rare diseases that have in common lysosomal storage malfunction. But because it is one of the largest rare disease organizations in the world. Terri Klein is the CEO leading the MPS Society. She says the group has over three thousand members on their roster. This brings some strength and resources in an area where l...

Just hours after Illumina announced their buyout of Pacific Biosciences, Theral sits down with longtime sequencing Omics Omics blogger, Keith Robison, and the Chief Science Officer at sequencing marketplace, AllSeq, Shawn Baker, to discuss the news which has taken the industry by surprise. A special thanks to our sponsor, Sage Science, and the quick decision on this show. This is a public episode....

As an election nears, the question of race and genetics has been front and center. It even prompted ASHG to take the unusual step of making a group wide statement. The three of us agree: scientists should talk more about the race question with non-scientists. Two papers in Tech Review this month show that the world of people buying cures and disease prevention through gene editing isn’t around the...

Time is health. Take certain blood cancers, for instance. When a patient is seen in a doctor’s office, they are then sent to a central lab for testing, and the results can take a few days. With blood cancer patients, these few days can be vital. For years a holy grail in diagnostics has been to get diagnostic tests to the point-of-care based on just a few drops of the patient’s blood that could gi...

The title says it all here. Herr Professor Schultze directs a major facility that he calls a single cell genomics platform. They have most of the single cell technologies available and partner with labs from all over the world on research. Advances in single cell technologies are changing basic research and also delivering results for translational work in everything from immunology to obesity. “B...

We ran a series this summer highlighting one of the major issues in biomedical research: that the collection, storage, and procurement of biospecimen samples lacks any across-the-board governing standards. Various institutions adopt their own regulations resulting in a checkerboard of quality assurance, and by extension, an unknown effect on the outcomes of research. Our first guest called it “gar...

And here we were thinking it was a slow month! We have two big stories today: first this philosophy of biology question about whether it’s a bad thing that we’ve been stuck circling the wagons ‘round the same ole genes. Is it just an economic question? Or is it that these are the most active genes, and so we need a meritocracy, as Nathan puts forth? This is a public episode. If you'd like to discu...

Vivek Bhalla is used to the question, what’s a nephrologist? When we admitted we’d never had one on the program, he made his own admission, saying that the kinds of people who became nephrologists are the kinds of people who don’t seek out the limelight. But Vivek, an assistant professor of medicine at Stanford, is changing that and speaking out on behalf of his profession. And he’s very excited a...

She's been a highly sought after venture funder and knowledge broker in the field of digital health. STAT News wrote that upwards of 1,500 pitches crossed her desk last year at GE Ventures. But as of a couple weeks ago, it's a desk at which she's no longer sitting. So what's she up to next? This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episod...

We like talking to the folks at the Personalized Medicine Coalition (PMC). They have many stakeholders and multifaceted speakers on a wide range of topics. Recently they’re open to talking more about DTC testing—as are most of the traditional diagnostics community. (In our most popular program of the year, CEO of Invitae, Sean George said back in May that the clinical community must “coop” with th...

It’s our first show back after the summer break, and nothing has got us all buzzing about genomics again like a polygenic risk score. It even has Laura Hercher talking about the Human Genome Project doing some delivering, god forbid. CRISPR has had a rough summer. But still . . . it is CRISPR. Is Burning Man still cool, we were asked last weekend. Don't know. Don't care. We asked back, is 23andMe...

For the next episode in our summer series on human tissue sample quality and biobanking, we turn to a veteran biobanker in the U.K. who managed several projects there including the U.K. Parkisons’ Disease Society Brain Bank at Imperial College. Today we talk to Kirstin Goldring, Principal Scientist at Astra Zeneca where she’s in charge of Human Biological Sample Strategy and Governance. Kirstin is...

As long as we’ve been doing clinical genetics, the goal has been to marry up the genetic data with phenotypic data in the electronic medical records. This has been achieved with some success and with a few of the best genetic markers at some of the leading healthcare providers: Geisinger, Rady Children's, Brigham and Women’s—to name a few. But it hasn’t happened at scale, at least not in this coun...

A book like this only comes around once in a while—one never knows from which corner. This time it was written by the CTO of a next gen sequencing data analytics company. “Every one of these cases was intense. It was just so fascinating that I had to put it down in a book and tell the story. There’s so much in biology that boggles your mind and makes you wonder.” This is a public episode. If you'd...

When former President Obama’s team released the paperwork for what’s become the All of Us Research Program, in the part about biobanking, the wording specified that the biobanks applying for the grants be “CLIA compliant.” 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