Mendelspod Podcast

Adham Jurdi was an oncologist at the Austin Cancer Center when the pandemic hit. His cancer patients were a doubly vulnerable population. Office visits, follow-up care — every interaction between the patient and the healthcare system put them at risk for COVID-19 infection, which would hit extra hard because of their compromised immunity. It was then that he discovered a blood test that could monitor the patient’s cancer using ctDNA and keep the patient more at home.Jurdi is now the medical director of oncology at Natera. He tells the story of how he began using Natera’s tests and eventually decided to join the company based on the promise of this new technology.“In 2020, everything shut down because of COVID-19. It was a really interesting time to take care of cancer patients. One of our top priorities was to minimize cancer patient interaction in the clinic to avoid exposure to COVID-19. And that includes getting scans,” says Jurdi at the outset of today’s program.This was precisely when Natera’s ctDNA testing came on the market. Jurdi said it looked very promising, so he “dipped his toes in the water.” He soon saw that the ctDNA test was predicting what would happen several months before the scans would show anything and decided to use it across the board with his patients. Fast forward a year, and he would join Natera to get the chance to help shape the field.And how is ctDNA testing impacting cancer, particularly colorectal cancer, today? For what applications throughout treatment are oncologists using ctDNA testing? What are the results of some extensive ongoing studies? When might major guidelines include ctDNA testing as routine care?Jurdi says that 40 percent of oncologists are now using this testing from Natera, and “we’re just scratching the surface.” 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

Henrik Zetterberg, a leading expert in Alzheimer’s research from the University of Gothenburg, discusses the recent breakthroughs in understanding and treating the disease. He highlights the growing acceptance of the amyloid cascade hypothesis and the development of FDA-approved drugs. Zetterberg elaborates on exciting studies involving biomarker-positive individuals without symptoms, questioning if early amyloid removal can slow down disease progression. He advocates for quicker approvals of new treatments to enhance patient care.

There’s a new company in the consumer genomics space that last month released results for the first adopters of its new consumer-facing whole genome product. Nucleus Genomics, founded by Kian Sadeghi, aims to reinvent direct-to-consumer genomic testing with "the consumer reach of 23andMe and the clinical consequence of Myriad Genetics.”Kian joins us today to talk about his vision for the company and why consumer genomics is still a great idea.“To know that we can potentially give someone an insight that could save their life—that’s so powerful,” he says in today’s show. I’m excited to bring genomics to a wider audience than it’s ever been delivered to.  If you look at 23andMe and the other consumer companies, we’re talking about 14 to 15 million people.  The United States has over 300 million people.  There are hundreds of millions of people who have never done a genetic test.”What does the Nucleus testing process look like?  How is the company determining which variants and PRS scores to return?  What about recent LDT regulation implementation?According to Illumina, which partners with the new company, Nucleus raised 18 million in funding in 2022, largely from Reddit founder Alexis Ohanian’s venture capital firm, Seven Seven Six, and Peter Thiel’s Founders Fund. Kian is just twenty-four years old.  He says he became highly motivated to do something when a teenage cousin died suddenly in her sleep and her doctors attributed it to long QT syndrome.   “Hundreds of millions of people in the United States are carriers for a DNA variant that they do not know about.  There’s a narrative that consumer genetics is dying, but less than .001% of the population has done a whole genome test,” he says.  “There’s so much to build here." 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.comAvi Veidman spent over 20 years in the IDF (Israel Defense Forces), leading multi-disciplinary teams in the use of AI, machine learning, and data science.  One of his key projects involved developing systems that mapped the world with satellite images to spot adversaries from space.  Upon retirement, he co-founded Nucleai with a couple of his former defense colleagues, believing that the AI technology they had seen and developed would be useful to a pathologist in tracking cancer.

Yuling Luo is a serial entrepreneur who has founded three significant companies in life science tools. Most recently, he is the founder and CEO of Alamar Biosciences which this year commercially launched its ARGO HT instrument as well as a powerful new panel to detect inflammatory proteins called NULISA.Before founding Alamar, Luo was the founder and CEO of Advanced Cell Diagnostics, which was acquired by BioTechne in 2016. He was also a co-founder of Panomics, which was scooped up by Affymetrix.Yuling recently lost his mother to cancer and feels the compelling case that we can do better with early detection. In founding Alamar, he realized this was really a technical problem.He says that “liquid biopsy is quite popular, but the performance is limited. Detection for stage I cancer is 25 percent. That is not good enough. We need to get to 80 to 90 percent for it to really be meaningful. Why not use proteins for markers?" he asked. "There are hundreds of thousands to millions of copies of proteins. And proteins are more specific to tissue type.”How does the new Alamar technology work and fit in the overall proteomics tools landscape? Yuling says it is more sensitive and able to detect 90 percent of the proteins in blood plasma, up from 50 percent with other tools. The new sensitivity comes from suppressing background noise 10,000 fold.How is Alamar’s technology impacting research in the hot areas of Alzheimer’s and inflammatory disease? What is the overall opportunity with this new sensitivity? And what is the biggest challenge for the company over the next couple of years? 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

Mara Aspinall, a leader in genomics and diagnostics, discusses trends in the industry, including valuations and new regulations. Topics include challenges in cancer detection, FDA support for monitoring minimal residual disease, liquid biopsy in personalized medicine, pandemic preparedness, and investing in diagnostic tools for future pandemics.

The genome has been the core focus of biomedical research for twenty years. Although the genome is prewritten and predetermined, much biology happens after it appears. One area is epigenomics, which is the modification of genomic outcomes.Bret Barnes has spent his career at Illumina developing the DNA methylation Infinium arrays that have become the workhorse of epigenomic studies around the world. Barnes says he was torn as a young person between biochemistry and computer science. He fortuitously ended up at UC Santa Cruz when they launched the first bioinformatics degree. Early on, he was interested in protein structure prediction.“There are 20 amino acids,” he said. “Way more exciting than DNA with only four bases.”But then he discovered the fifth base.“Methylated cystine is the fifth base. So five, not four — a little better,” he continues. At the time of the Solexa acquisition, Illumina recruited Bret to do bioinformatics work on DNA methylation.“If the king and queen of DNA methylation at Illumina were Kevin Gunderson and Marina Bibikova, then you could think of me as the prince or maybe the joker,” he says, tongue in cheek.Where are we at today in epigenomics? What applications does Barnes see for the actionable epigenome, and how is the field developing? 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.comNot content to offer “me too” products, a new company in the prenatal arena, Billion to One (BTO), is reimagining prenatal testing. Last year, their new Unity Fetal Risk Screen was featured in the American Journal of Human Genomics as a top advancement in applying genomics to clinical care. Joining us today is Jennifer Hoskovec, Senior Director of Medical Affairs at BTO. She says the new Unity Screen offers two steps in testing: the first screen and, if necessary, a risk assessment for the baby. These can both be done with a single blood draw from the mother. Up until now, the father’s DNA was needed as well as the mother’s to determine risk assessment. Because a sample of the father’s DNA may not be easily attainable or can just cost more, Jennifer says that the new Unity Screen is further democratizing prenatal testing.

This week, we saw Dr. Anthony Fauci being grilled by an angry congress over, among other things, the origin of COVID-19, which is estimated killed at least 25 million people.  He was asked about how the National Institute of Allergy and Infectious Diseases, which he directed until 2022, funded risky virus research at the Wuhan lab in China.Ever since the pandemic broke out, scientists, as well as policymakers, have been debating new restrictions on pathogen research, and last month, the White House released a new policy for what it calls “dual use research of concern and pathogens with enhanced pandemic potential.Marc Lipsitch is Professor of Epidemiology and Director of the Center for Communicable Disease Dynamics at the Harvard Chan School of Public Health.  He joins us to talk about the pros and cons of the new policy and explain how it might work moving forward.Marc acknowledges there is legitimate disagreement among scientists, but these are value-laden questions, so it's for more than scientists to decide. It should include ethicists and the public. What are some of these value-laden questions? Will this impact privately funded research, and what are some of the alternative possibilities to high-risk research? 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

A new precision medicine startup has launched that uses transcriptomic and epigenetic information to help with therapy for a wide range of chronic disorders. Hayward, California-based Aqtual emerged from stealth at the end of last year with data on its first assay, a blood-based test for rheumatoid arthritis.Today, we’re joined by Diana Abdueva, Aqtual’s Founder and CEO, and Maggie Louie, VP of Translational Research and Strategic Partnerships."We are complex organisms that work beautifully for many years,” says Diana in today’s interview.  "But when something goes wrong, it is very hard to detect where the pathology originates.  There are many applications other than oncology, such as dermatology or immunology.”We explore Aqtual’s technology and history and consider the exciting possibilities for liquid biopsy beyond oncology. 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