Mendelspod Podcast

We’re happy to welcome back Ben Busby, Principal Scientist at DNAnexus, to dive deeper into the evolving world of disease subtyping and multi-omic data sets. Building on our previous conversation with Busby about the genomic data ecosystem, we explore the shift from single-cause disease models to multifaceted approaches that incorporate genomics, proteomics, imaging, and more."We’re no longer in a world where we’re doing genomics or imaging or proteomics," he explains. "These things are all coming together, and it’s important that they do. The UK Biobank will soon have 80 million images."Busby highlights the UK Biobank’s leading role in this transformation, with its extensive genomic, imaging, and clinical data available to researchers worldwide. He emphasizes the importance of enabling scientists to access and analyze vast datasets collaboratively while ensuring participant privacy, and points to the role of DNAnexus in providing a trusted research environment where multiple stakeholders, from pharma to academia, can work with data efficiently and securely.The episode also explores the impact of AI in bioinformatics, particularly in hypothesis generation. "AI is helping us think beyond single-cause events," Busby notes, referencing its ability to generate novel insights from complex biological data. He underscores the need for proper alignment between AI systems and scientific goals, stressing that human intuition remains essential in guiding these technologies toward meaningful discoveries.As the field moves forward, Busby calls for more equitable data sharing practices, ensuring credit for data generators and benefits for study participants. "We need to figure out how to incentivize data generation in a way that’s fair and equitable," 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

John Cumbers, founder of SynBioBeta, is a pioneer in synthetic biology and AI integration. He discusses the blending of these fields, emphasizing its potential to transform our understanding and engineering of biology. Cumbers highlights the need for a 'ChatGPT moment' in synthetic biology to enhance public engagement and awareness. He explores themes for the upcoming SynBioBeta 2025 conference, including advancements in longevity, AI-driven drug development, and innovative applications of non-canonical amino acids—all crucial for making biology more accessible.

Today Theral is joined by returning guests Chris Mason of Weill Cornell Medicine and Simon Fredriksson, CEO of Pixelgen Technologies, for a deep dive into the emerging field of cell surface proteomics and its power to illuminate both space biology and cancer research.Chris Mason shares new insights from his work on the Space Omics and Medical Atlas (SOMA), the largest collection of astronaut health data to date. His latest findings confirm that space is more than a hostile environment—it’s a revealing one. Space is a kind of alternate reality that lets us test fundamental questions about biology and human health. Mason says changes in telomere length, immune system behavior, and skin inflammation during spaceflight are offering a new window into how the body responds to stress—whether in orbit or in disease states like cancer on Earth.Enter Pixelgen’s breakthrough technology, the proximity network assay, which allows researchers to map how proteins are organized on the surface of immune cells with nanoscale precision. As Fredriksson explains, “Cells don't operate only by parts lists, but by how they're organized to do all their functions.” Their approach enables the first large-scale spatial mapping of protein-protein interactions in three dimensions using DNA sequencing—unlocking insights not possible through traditional single-cell or bulk assays.In a collaborative effort, Mason’s lab and Pixelgen are applying this technology to study T-cell dynamics during spaceflight and in acute myeloid leukemia (AML). The results are striking: specific protein markers cluster together only during spaceflight and only at relapse in leukemia, offering clean, quantifiable signatures with clinical potential.As Mason puts it, “This is a new modality of data—it forces you to ask, ‘Well, what does this mean?’ And you’re like, ‘Well, we’ve never seen it before.’ So we’re figuring it out.” Whether predicting relapse in cancer or designing better drugs for space and Earth, cell surface proteomics is opening a new frontier in biomedical 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

Christian Henry, CEO of Pacific Biosciences, discusses the pivotal role of DNA in genomics and the anticipated launch of the Vega system, a groundbreaking long-read sequencer priced at $169,000. He highlights how this innovation enhances access to long-read sequencing and addresses the pressing concerns over NIH funding and its potential impact on research. Henry is optimistic about the future of genomics, emphasizing the unique discoveries that long reads unlock, including those in epigenetics and disease understanding.

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comIt’s time for our annual deep dive into sequencing—no, wait—multi-omics! Back on the show is our resident sequencing guru, Keith Robison, scientist at Ginkgo Bioworks and author of the OmicsOmics blog. Keith is our all time return champion, and as always, he brings technical experience alongside the storytelling instincts of a seasoned journalist.Keith …

This week on Mendelspod, as we celebrate International Women’s Day, we’re spotlighting groundbreaking contributions from women in science. Our guest, Dr. Mirna Ghemrawi, is at the forefront of forensic genetics, where DNA analysis meets the pursuit of justice. As Associate Director at the Center for Forensic Science Research and Education, Ghemrawi applies next-gen sequencing and AI to some of the most challenging questions in forensic biology.Originally from Lebanon, Ghemrawi’s path to forensic science began in the medical field before she earned a Fulbright scholarship to study in the U.S. and ultimately pursued a PhD in forensic genetics. “I always knew I had a passion for forensics,” she says. “There weren’t many opportunities back home, but I knew that any science-related field would help me get there.”One of the most exciting areas of her current research involves using genetic and epigenetic markers to predict what a suspect may look like—an approach that, when combined with forensic genetic genealogy, could revolutionize investigations. “The idea is that we can not only get human identification from DNA but also predict age, eye color, hair color, and even certain phenotypic traits,” she explains. “If this works, it could help narrow down family trees in genealogical investigations.”The conversation also touched on the evolving challenges in forensic science, particularly as DNA analysis becomes more sensitive. Questions around DNA transfer—whether genetic material was directly or indirectly placed at a crime scene—are increasingly shaping legal arguments. “We can now get a profile from an incredibly small sample,” Ghemrawi notes, “but that raises questions about how the DNA got there, and courts are having to consider these new complexities.”Ghemrawi is passionate about mentoring the next generation, particularly encouraging young women to step into forensic science. “The only way you know you can’t do something is by trying,” she advises. “Ask questions, be persistent, and don’t be afraid to push into new territory.” 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 this urgent and unflinching conversation, Stanford law professor Hank Greely returns to Mendelspod to address the mounting threats of the Trump administration to public science funding and the institutions that regulate medicine. As the NIH faces existential challenges and the FDA comes under fire, Greely lays out a compelling case for why government-supported research remains essential—not just for innovation, but for maintaining a functional society.“Research is like fishing,” Greely explains. “You cast your net, and sometimes you catch something big, sometimes you don’t. But if you stop casting altogether, you’re guaranteed to catch nothing.” He argues that long-term investment in science is the only way to sustain real progress, even if individual studies don’t always yield immediate breakthroughs.Greely also draws a stark historical comparison, warning that the current climate resembles the Communist Cultural Revolution, “except this time the war on expertise and knowledge isn’t coming just from the top down—it’s being fed from every direction.” The consequences, he suggests, could be felt for generations.Yet, while calling for outspokenness, Greely also urges compassion for those in academia and government who feel they cannot safely speak out. “Some of the people who aren’t being as forthright as we’d like—it’s not personal cowardice,” he says. “They’re trying to protect their institutions, their labs, their students, their colleagues. And that’s something we need to understand, even as we push for change.” 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

For decades, drug developers have struggled with so-called "undruggable" proteins—those regions of the proteome that evade traditional small molecules and antibodies. But Aikium, led by Eswar Iyer, could be changing the game. In today’s show, Iyer, a prolific scientist with over 100 patents and a background in George Church’s lab, shares how his company is tackling one of the toughest challenges in therapeutics.At the heart of Aikium’s approach is Yotta-ML2, an AI-powered wet lab platform that searches the vast combinatorial space of proteins to create precise, bespoke binders for disease targets that have long been out of reach. “The combinatorial space for how many proteins can bind a region is very large,” Iyer explains. “Experiments are limited to 10⁹ to 10¹² possibilities, but the theoretical space exceeds 10¹⁵. We’re using AI to intelligently navigate this massive search problem and find what actually works in the body.”Iyer is clear-eyed about the biggest challenges ahead: “AI is just hype if it can’t deliver better therapies, faster,” he says. “The biggest barrier isn’t just designing binders—it’s making sure they work in human biology, avoiding immunogenicity, and accelerating the slow feedback cycle of drug development.”Looking to the future, Iyer envisions a major shift in the industry: “We’re living in an age of exponential technologies. Just as AI has transformed other fields, it’s going to compress the timeline and risk of therapeutic development. In five or six years, we’ll see a wave of AI-designed molecules entering the clinic.” 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

Today Theral talks with Laura Hercher, Director of Research for Human Genetics at Sarah Lawrence College, about the growing political assault on diversity, equity, and inclusion (DEI) initiatives in scientific research. With the NIH facing sweeping budget cuts and DEI programs cancelled, Hercher makes a compelling case for why diversity isn’t just a social or moral issue—but a scientific imperative."What you're cutting is cancer funding. What you're cutting is Alzheimer's research. What you're cutting is funding for sick kids," Hercher warns, pushing back against the rhetoric that frames these cuts as mere "overhead reductions."She breaks down how diversity strengthens both scientific databases and the research workforce, emphasizing that genetic studies are incomplete without diverse representation. She also addresses the political motivations behind these attacks, highlighting the broader pattern of anti-intellectualism and anti-science sentiment creeping into public policy.Hercher closes with a powerful statement about her own institution’s commitment to DEI:"We are not changing a damn thing. We think it's right, and we're sticking to it."Join us today and make your own voice heard if you’re concerned about the future of scientific research and equity in medicine.Editor’s Note: Today’s show is dedicated to our late Executive Producer, Ayanna Monteverdi. 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

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comLung cancer is the most deadly of all the cancers worldwide. Very few of those who should be— are getting screened. There is enormous medical need here, and early cancer detection through advanced liquid biopsy could be a tremendous part of the answer.Today, as part of our series on the future of genetic testing, we welcome Susan Tousi, CEO of Delfi Diagnostics, a company pioneering next-generation liquid biopsy technology for early cancer detection. Tousi came to the post a year ago formerly serving as Illumina’s Chief Commercial Officer. Delfi has made significant strides in developing affordable, high-sensitivity blood-based tests focusing on lung cancer.Tousi discusses the company’s groundbreaking approach, which leverages whole-genome sequencing and machine learning to detect cancer at its earliest stages."We believe that for early detection to make a difference and make cancer less deadly, you have to be catching it at stage one or stage two," she emphasizes.By using a low-pass sequencing method, Delfi is able to keep costs low while maximizing sensitivity, making widespread screening more accessible. The conversation highlights the dire need for better lung cancer screening methods, given that fewer than 6% of eligible individuals undergo annual screening with low-dose CT scans."Lung cancer alone takes more lives annually than colorectal, breast, and cervical cancer combined," Tousi notes.Delfi aims to change this with its simple blood test, already in commercial use and being adopted by major healthcare systems such as OSF HealthCare and Allegheny Health Network.Beyond lung cancer, Tousi also shares insights into Delfi’s broader vision, including its work on liver and ovarian cancer detection, as well as its potential in tumor monitoring."Every day that goes by without better screening means lives lost that we could have saved,” she states.