Mendelspod Podcast – Détails, épisodes et analyse

Genetic studies of human populations have become a major tool for drug development. In the last few years, these studies have moved toward comprehensive proteomics profiling as well. In late 2023, a paper was published in Nature by the Pharma Proteomics Project, which characterized the plasma proteomic profiles of 54,219 UK Biobank participants. This was a precompetitive biopharmaceutical consortium that sought to provide a mapping of 2,923 proteins that identified 14,287 primary genetic associations, of which 81 percent were previously undescribed.

Chris Whelan was the lead author of this project paper, and he joins the show to discuss what’s next for these kinds of studies and their results. Whelan is a director of neuroscience on the data science and digital health team at Janssen Research & Development. He’s also chair and co-founder of the Pharma Proteomics Project.

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A new blood collection device offered by startup company Tasso is a blood lancet that collects whole liquid blood samples. Its ease of use for at-home collection could dramatically improve patient testing compliance and impact the scale of clinical trials.Ben Casavant is the co-founder and CEO of Tasso. He joins us to discuss the possibilities for at-home testing.  Ben and the company have raised over $100 million dollars.

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One might think the pandemic would have been good for diagnostic companies.  So why the financial hangover?Mara Aspinall has 30 years of leadership in genomics and the diagnostics industry.  This has led her to her current role as a new partner at Illumina Ventures, a venture fund independent from Illumina that is focused on funding diagnostics and tools companies.Mara publishes the fantastic newsletter Sensitive and Specific and also a yearly report on industry trends, which is the topic of our show today. We discuss valuations, new regulations, and the latest science. Mara co-founded the Biomedical Diagnostics master’s degree program at Arizona State University, the only program dedicated exclusively to diagnostics, genetics, and genomics.  How is the program faring, and how are we doing as a nation in educating the next generation on a revolution in diagnostic testing?

Working at the Broad Institute early in his career, Michael Schnall Levin was discovering he was a biologist at heart. He’d begun his studies in physics then done his PhD in mathematics. But he'd wanted “to do math that had an application in the real world.” It was at the Broad that Michael came in contact with the new tools that were revolutionizing biology.

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According to scientists, 30,000 species per year are going extinct. That’s 6 an hour, 150 per day. Up to one half of all species could be extinct by 2050.

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Chris Mason is back on the program for our end-of-year special. He’s Professor of Genomics, Physiology, and Biophysics at Weill Cornell School of Medicine and the author of such an outstanding book that we had to have him on the program a second time this year.

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In a joint interview, Sean George, CEO of diagnostics firm, Invitae, and Christian Henry, CEO of sequencing tools company, Pacific Biosciences, say that “it was clear in the first five minutes of a phone call that they shared a vision for doing something big together.”

What comes through the interview is that this partnership is built on a big vision: speeding up the adoption of whole genome sequencing into clinical medicine as the preferred method for genetic testing.

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There are some technologies that become so ubiquitous in biomedical research that their name turns synonymous with their use. This has been the case for the Luminex xMAP platform and multiple biomarker analysis. The product has been applied in just about every area of life sciences including infectious disease, STD, organ transplant rejection, vaccine development, cancer research, immunodeficiency, animal testing, agriculture, and others. (xMAP is a research use only product and not for use in diagnostic procedures.)

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DNA is a multibillion-dollar industry in 2021 and satisfies many life science applications, including drugs, reagents, siRNA, PCR, diagnostics, synthetic biology, and many others. Enzymatic DNA synthesis, or EDS, is a new approach to manufacturing DNA that is much more efficient and user-friendly and could disrupt the current market.

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If one was going to be a cancer researcher, surely one would want to be Christina Curtis. She’s an associate professor of oncology and genetics at Stanford, and she studies tumor evolution. She’s the Darwin of cancer research.

Because scientists can’t see human tumors evolve in real life, in Christina's lab she creates what she calls "virtual tumors that recapitulate the size and spatial properties of an actual tumor. And evaluating patient data,” she says, "we have found that metastatic seeding could happen very early. That these tumors were born to be bad.”

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