https://www.illumina.com/science/genomics-podcast.htmlHear directly from the people whose work in genomics is shaping the way we think about science and our world. Listen as leading scientists discuss the impact of genomics with the Illumina Scientific Affairs team. Download or subscribe to our recurring podcasts.en-us© Illumina 2017.Illumina, Inc.Hear directly from the people whose work in genomics is shaping the way we think about science and our world. Listen as leading scientists discuss the impact of genomics with the Illumina Scientific Affairs team. Download or subscribe to our recurring podcasts.Paul Bromannpbromann@illumina.comnoIllumina Scales Variant Calling and Genome Interpretation to Improve Gaps in Genetic Testing83Illumina Genomics PodcastIn this podcast, Mendelspod’s Theral Timpson is joined by Sam Strom, a principal scientist at Illumina with a background in clinical testing. In this interview, Sam addresses two of the big challenges in clinical sequencing, which are variant calling and variant interpretation. Sam says Illumina has created its own multi-sample genomic reference and is also making use of artificial intelligence to improve variant calling. He also shares how Illumina supports scaling variant interpretation for genomes and other assays with an AI and automation comprehensive solution, enabling high-quality genetic testing workflows to reach next level accessibility.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/Sam Strom Show 2024.mp3Thu, 18 Apr 2024 00:00:00 PSTno31:19How Do You Train Genomics AI? On Natural Selection Itself, Says VP of Illumina's AI Lab, Kyle Farh84Illumina Genomics PodcastIn this podcast, Mendelspod’s Theral Timpson speaks to Kyle Farh, VP and distinguished scientist leading Illumina’s Artificial Intelligence Lab. Farh says the company began the AI lab seven years ago when deep learning was just taking off. Two of the team’s AI algorithms, PrimateAI-3D and SpliceAI, published in Cell and Nature Genetics, were among the first examples of deep learning algorithms in genomics. This interview takes a close look at Illumina’s activities in AI and delves into the long-term impact of AI on genomics.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/Kyle Fahr 2024.mp3Thu, 18 Apr 2024 00:00:00 PSTno28:20Two Industry Leaders on the Growing Complexity of Genomic Cancer Data85Illumina Genomics PodcastIn this podcast, Mendelspod’s Theral Timpson speaks to Cara Statz from JAX and Erica Schnettler from Illumina about how their combined technologies are helping researchers and oncologists deal with the increasing complexity of cancer genomic data. They discuss oncologists' experience dealing with an overwhelming amount of new scientific data, and both guests give their advice for new labs setting up cancer testing and oncology clinical research.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/JAX and Illumina 2024.mp3Thu, 18 Apr 2024 00:00:00 PSTno32:51Does finding a rare mutation accomplish anything?81Illumina Genomics PodcastRachel E. Sanborn, MD, presents the journey of a patient diagnosed with atypical carcinoid with brain metastases who benefited from the detection of a KIF5B-RET fusion by comprehensive genomic profiling. Rachel E. Sanborn, MD is the medical director of the Thoracic Oncology and Phase I Clinical Trials Programs at the Earle A. Chiles Research Institute at Providence Cancer Institute.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/Does finding a rare mutation accomplish anything.mp3Wed, 10 Apr 2024 00:00:00 PSTno04:34ctDNA-guided treatment in colorectal cancer82Illumina Genomics PodcastJeanne Tie, MD, discusses the DYNAMIC trial and areas of unmet needs for minimal residual disease (MRD) to become the standard of care for patients with colorectal cancer. The DYNAMIC trial showed that a ctDNA-guided approach reduces the use of adjuvant treatment in patients with stage II colon cancer without compromising their clinical outcome. Jeanne Tie is a medical oncologist and professor at Peter MacCallum Cancer Centre.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/ctDNA-guided treatment in colorectal cancer.mp3Wed, 10 Apr 2024 00:00:00 PSTno04:14Clinical utility of ctDNA testing in lung cancer80Illumina Genomics PodcastAtocha Romero, PharmD, PhD, explains the value of liquid biopsy-based comprehensive genomic profiling. Dr. Romero provides an overview of the results of the NADIM II clinical trials and discusses ctDNA testing to monitor disease and guide treatment. Atocha Romero, PharmD, PhD, is the director of the Liquid Biopsy Laboratory of the Medical Oncology Department at the Hospital Universitario Puerta de Hierro in Madrid, Spain.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/Clinical utility of ctDNA testing in lung cancer.mp3Wed, 10 Apr 2024 00:00:00 PSTno04:24Liquid biopsy NGS in cancer care79Illumina Genomics PodcastPashtoon Kasi, MD, MS, explains how liquid biopsy next-generation sequencing (NGS)-based testing can benefit cancer patients. Dr. Kasi presents four colorectal cancer patient cases for whom comprehensive genomic profiling (CGP) was done via liquid biopsy and results for clinically-relevant biomarkers were obtained in 7-8 days. http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep79_TSO500_Kasi_Liquid Biopsy NGS_FINAL.mp3Wed, 26 Apr 2023 00:00:00 PSTno05:56Genetic counselling in an era of prenatal screening, tools to support patient informed consent78Illumina Genomics PodcastListen to Genetic Counsellors Katie Ellis and Patricia Winters, Illumina discuss how more resource-efficient counselling methods are needed to support patient informed consent for genetic testing during pregnancy. They discuss the resources available for healthcare providers and expectant parents that allows them to make informed decisions.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep78_Ellis_Winters.mp3Mon, 03 Apr 2023 00:00:00 PSTno11:42Testing for NTRK Fusions77Illumina Genomics PodcastVivek Subbiah, MD, explains how patients with rare and common tumors can benefit from next generation sequencing (NGS)-based testing for NTRK gene fusions. He presents the case of a patient who benefited from precision medicine based on the detection of a NTRK1 fusion by comprehensive genomic profiling.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep77_Subbiah.mp3Fri, 11 Nov 2022 00:00:00 PSTno06:17Homologous Recombination Deficiency (HRD) Testing in Ovarian Cancer76Illumina Genomics PodcastIsabelle Ray-Coquard, MD, PhD, explains how comprehensive genomic profiling (CGP) simultaneously provides HRD and BRCA status in ovarian cancer patients. She presents the case of a patient who benefited from CGP testing for these biomarkers and shares the recent findings of the PAOLA-1 trial.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep76_Isabelle.mp3Fri, 11 Nov 2022 00:00:00 PSTno05:26Pharmacogenomics: Barriers and Opportunities to Implementation 75nullDr. Ronald Leopold discusses implementation of pharmacogenomic screening in the healthcare industry. The conversation explores barriers to pharmacogenomic (PGx) program adoption, the future of precision medicine, and a paradigm shift away from reimbursement to value-based healthcare.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep75_Leopold.mp3Mon, 26 Apr 2021 00:00:00 PSTno26:56The Impact of Pharmacogenomics on Precision Medicine74nullWhy does a medication effectively “cure” one patient while having little to no effect, or worse, an adverse effect, on another? The answer may be found in our genome. Pharmacogenomics research aims to understand how genetic variations affect responses to medications, and can provide vital information for physicians as they choose a therapy regimen and prescribe dosage. Dr. Howard McLeod shares his thoughts on pharmacogenomics and the future of precision medicine.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep74_Mcleod.mp3Wed, 21 Apr 2021 00:00:00 PSTno29:17Metagenomics in the Time of Covid-19: Emerging Pathogens73nullRobert Schlaberg and Lauge Farnaes from IdByDNA join us to talk about the evolution of metagenomics technology. The is the second half of their interview, where the focus shifts towards the application of metagenomics in facing the threat of emerging pathogenshttp://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep73_Schlaberg_Farnaes.mp3Thu, 01 Apr 2021 00:00:00 PSTno19:10Metagenomics in the Time of Covid-19: Clinical Metagenomics72nullRobert Schlaberg and Lauge Farnaes from IdByDNA join us in a two-part interview to talk about the evolution of metagenomics technology. In the first part of this interview, the discussion focuses on the application of metagenomics on infectious diseases in the clinical realm.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep72_Schlaberg_Farnaes.mp3Thu, 01 Apr 2021 00:00:00 PSTno25:52Genomic Surveillance and Testing for SARS-CoV-2 71Illumina Genomics PodcastChristopher Mason from Weill Cornell Medicine discusses his multifaceted approach to the urgent need for testing when the COVID-19 pandemic broke out in early 2020. Chris also discusses finding from a paper that was published in Nature Communications this year, entitled “Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions.” (https://www.nature.com/articles/s41467-021-21361-7).http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep71_Mason.mp3Tue, 16 Mar 2021 00:00:00 PSTno24:44Exploring the Genomic Diversity of Africa70nullAlthough Africa is the continent with the highest amount of genetic diversity, it is underrepresented in global genomic databases. H3Africa is one of several initiatives, founded in 2010, that responded to the challenge of narrowing this gap. To discuss their efforts at H3Africa, we are joined by Zané Lombard Professor at the University of the Witwatersrand in Johannesburg, South Africa, and Neil Hanchard at the Baylor College of Medicine in Houston, TX. http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep70_Lombard_Hanchard.mp3Mon, 01 Mar 2021 00:00:00 PSTno31:12Developmental Biology Meets Immunotherapy69Illumina Genomics PodcastAlthough most developmental genes are silenced in adult somatic cells, some can be reactivated in cancer cells and promote tumor growth. Listen to Dr. Guo-Liang Chew of the Cancer Science Institute of Singapore discuss the discovery of a novel role for developmental genes in regulating the immune response to cancer.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep69_Chew.mp3Thu, 03 Sep 2020 00:00:00 PSTno23:59Genomics and the End of the Diagnostic Odyssey68Illumina Genomics PodcastWhole genome sequencing can help diagnose genetic diseases in days and holds the promise of helping parents avoid months or years of inconclusive tests. Listen to Dr. Vandana Shashi of Duke University and Kimberly LeBlanc of the Undiagnosed Diseases Network and learn how whole genome sequencing can short-circuit the diagnostic odyssey for patients with rare diseases.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep68_UDN.mp3Wed, 13 May 2020 00:00:00 PSTno20:45Standardization of Clinical Whole Genome Sequencing67Illumina Genomics PodcastWhole genome sequencing has the potential to supplant the traditional stepwise approach to genetic testing, but standard laboratory guidelines and clinical best practices are critical for implementing the technology. Listen to Dr. Christian Marshall of The Hospital for Sick Children explain how laboratory and clinical best practices can help enable whole genome sequencing for diagnosing genetic diseases.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep67_Marshall.mp3Mon, 11 May 2020 00:00:00 PSTno20:47Rapid Genome Sequencing of Critically Ill Children65Illumina Genomics PodcastGenetic diseases are the leading cause of death among infants that are hospitalized in intensive care, and an estimated four percent of newborns in North America may be affected. Listen to Dr. Shimul Chowdhury, of Rady Children's Institute for Genomic Medicine, explain how rapid whole genome sequencing can help pinpoint the causes of rare diseases in children.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep65_Chowdhury.mp3Wed, 29 Apr 2020 00:00:00 PSTno23:36Integrating Genomics with Behavioral Sciences64Illumina Genomics PodcastBehavioral medicine holds the promise of helping scientists better understand how genomics outputs impact on individuals and their lives. Listen to Professor Catharine Wang of Boston University explain her research on how individuals adopt new health technologies, including genomics and molecular diagnostics.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep64_Wang.mp3Wed, 22 Apr 2020 00:00:00 PSTno25:57Growing the Invertebrate Tree of Life with Genomics63Illumina Genomics PodcastInvertebrates make up 95% of all animal species. They’ve been around for hundreds of millions of years and help to maintain the health of our planet. Listen to Professor Gonzalo Giribet of Harvard College and the Harvard Museum of Comparative Zoology explain how genomic and morphological data from living and extinct animals is helping scientists to better understand invertebrate evolution and diversity.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep63_Giribet.mp3Wed, 01 Apr 2020 00:00:00 PSTno18:51DNA Structural Variants from Microscope to Sequencer62Illumina Genomics PodcastStructural variants are relatively large changes in DNA sequence across the genome, and they play a significant role in human disease. Listen to Dr. Michael Talkowski of Massachusetts General Hospital and Harvard Medical School explain how genomics is helping us to understand the biology of DNA structural variation and its impact on human developmental and psychiatric disorders.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep62_Talkowski.mp3Thu, 19 Mar 2020 00:00:00 PSTno22:29Finding Rare Diseases and Genome Sequencing61Illumina Genomics PodcastAccording to the California Healthcare Institute, up to 10% of the population may be affected by a rare disease. But because each individual disease is rare, it can be challenging for health care professionals to correctly diagnose and treat them. Listen to Dr. Christine Stanley of Variantyx explain how whole genome sequencing can impact on the understanding and diagnosis of rare genetic disorders.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep61_Stanley.mp3Wed, 04 Mar 2020 00:00:00 PSTno23:04Genomics of Diet and Precision Nutrition60Illumina Genomics PodcastAccording to the CDC, up to 40% of adults in the United States are obese. Diet and exercise play critical roles in obesity and in our general health, but what is the best diet; and, is that diet best for everyone? Listen to Dr. José M. Ordovás of Tufts University discuss nutrigenomics, the study of how our genomes impact on our nutrition and health.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep60_Ordovas_FINAL.mp3Wed, 19 Feb 2020 00:00:00 PSTno23:22Drug Discovery through Gene Regulation59Illumina Genomics PodcastTargeted drug discovery has traditionally focused on inhibiting or modulating the function of abnormal proteins. But many more diseases could potentially be treated by controlling the expression of abnormal and normal genes. Listen to Dr. Eric R. Olson of Syros Pharmaceuticals explain how epigenomics is enabling a paradigm shift in drug discovery.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Ep59_Olson.mp3Thu, 06 Feb 2020 00:00:00 PSTno23:062019 and the Year in Genomics58Illumina Genomics PodcastIn 2019, NGS continued to enable scientists to make great strides in understanding human biology and disease. In this special compilation episode, I’ll share some of our 2019 podcast highlights. We’ll also share our expert guests’ predictions for science, medicine, and genomics – where we were in 2019, and where we’re going in 2020 and beyond.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode58_2019recap.mp3Wed, 22 Jan 2020 00:00:00 PSTno25:02Comprehensive Genomic Tumor Profiling57Illumina Genomics PodcastNGS-based genomics assays can help characterize the genetic profile of a tumor, and these technologies are poised to supplant single-gene testing in oncology. But, what impact will this revolutionary technology have on patients, clinicians, and the entire healthcare system? Listen to Dr. Brian Piening of the Providence Cancer Institute explain how NGS is changing the standard of care in oncology.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode57_Piening.mp3Wed, 11 Dec 2019 00:00:00 PSTno19:58Genomic Tumor Profiling and Precision Oncology56Illumina Genomics PodcastUnderstanding the mutational profile of a tumor can help to guide therapeutic options. Genomics has enabled the simultaneous analysis of multiple mutations across multiple genes, providing a comprehensive genomic profile of a given tumor. Listen to Dr. Rachel Sanborn of the Providence Cancer Institute explain how genomics technologies are empowering precision oncology.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode56_Sanborn.mp3Wed, 20 Nov 2019 00:00:00 PSTno22:37Genomics and Feeding a Hungry World55Illumina Genomics PodcastAgriculture has sustained and enhanced human life for thousands of years, but a changing environment and expanding population is increasing demand for more productive and more sustainable farming. Listen to Dr. Andrzej Kilian of Diversity Arrays Technology describe how NGS-based genotyping is helping to develop more sustainable agriculture practices.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode55_Kilian.mp3Wed, 06 Nov 2019 00:00:00 PSTno22:32If Tumors Could Talk54Illumina Genomics PodcastCancer is one of the leading causes of death around the world, and 38% people will be diagnosed with cancer at some point in their lives. Listen to Dr. Ramanuj DasGupta and Dr. Shumei Chia of the Genome Institute of Singapore describe how patient-derived tumor models and NGS can combine to offer new insights in precision oncology.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode54_DasGupta.mp3Wed, 23 Oct 2019 00:00:00 PSTno21:03NGS and New Frontiers in Infectious Disease53Illumina Genomics PodcastSepsis is a serious medical condition typically caused by a bloodstream infection. The World Health Organization estimates that sepsis affects 30 million people worldwide every year, leading to 6 million deaths. Listen to Jean-François Brepson of PathoQuest discuss the challenges in infectious disease diagnostics and how NGS technology can improve pathogen detection and antibiotic stewardship.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode53_Brepson_FINAL.mp3Wed, 09 Oct 2019 00:00:00 PSTno21:51DNA Stories of Australia’s First Peoples52Illumina Genomics PodcastTo ensure global scientific benefit from genomics, we need a better understanding of human genetic diversity, yet some communities remain underrepresented in genetics studies. Listen to Professor Simon Easteal of the Australian National University explain how studying DNA in collaboration with Indigenous Australian communities can improve the health and well-being of Australia's First Peoples.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode52_Easteal.mp3Wed, 25 Sep 2019 00:00:00 PSTno22:13NGS Improves In Vitro Fertilization51Illumina Genomics PodcastThe average risk of miscarriage in a healthy woman is 10-25%, and risk increases with increasing maternal age. In vitro fertilization (IVF) is a set of technologies that can be used to overcome female or male infertility. Listen to Dr. Mark Bowman of Genea explain the science and technology behind IVF, and how next-generation sequencing can improve IVF through preimplantation genetic testing.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode51_Bowman.mp3Wed, 11 Sep 2019 00:00:00 PSTno22:11Genetic Screening and Inherited Disorders50Illumina Genomics PodcastGenetic carrier screening is used to identify recessive mutations linked to genetic disorders. It can be performed for women and men who want to know if their future children might be at risk for genetic diseases. Listen to Zoe Milgrom of Eugene Labs discuss the technology and genetic counseling behind carrier screening.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode50_Milgrom.mp3Thu, 29 Aug 2019 00:00:00 PSTno21:20Sequencing the Cancer Epigenome49Illumina Genomics PodcastThe epigenome is the chemicals and proteins that bind DNA and regulate gene expression. Gene regulation, also called epigenetics, is critical for diseases like cancer. Dr. Susan Clark is Research Director of Genomics at the Garvan Institute of Medical Research. She’s an expert in the genomics of DNA methylation, and she joins me to discuss the role of epigenetics in human biology and cancer.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode49_Clark.mp3Wed, 14 Aug 2019 00:00:00 PSTno24:19Genomics and Tiger Conservation in Nepal48Illumina Genomics PodcastTigers are apex predators in the wild and vital to maintaining biodiversity, but fewer than 3,000 tigers remain in areas of southeast Asia. Dr. Dibesh Karamcharya is Executive Director of the Center for Molecular Dynamics Nepal, and he joins me to explain how the Nepal Tiger Genome Project is helping scientists to better understand these amazing animals and to aid in their conservation.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode48_Karmacharya.mp3Wed, 31 Jul 2019 00:00:00 PSTno25:03Escape from Limbo Land47Illumina Genomics PodcastParents of children who suffer from a rare disease can sometimes find it difficult to find a diagnosis, sometimes spending years living in a diagnostic limbo land. Heather Renton is the executive officer of Syndromes Without A Name (SWAN) Australia, and she joined me to discuss her daughter’s rare disease and the impact of NGS-based testing on her and her family.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode47_Renton.mp3Wed, 17 Jul 2019 00:00:00 PSTno20:58Unravelling the Mystery of Autoimmunity46Illumina Genomics PodcastThe immune system is skilled at determining friend from foe. But, our immune systems can sometimes turn against us, leading to autoimmune disease. Dr. Carola Vinuesa is Professor of Immunology at the Australian National University, and she joins me to discuss how NGS can unravel the complex interaction of cells and molecules that regulate antibody response and autoimmunity.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode46_Vinuesa.mp3Mon, 08 Jul 2019 00:00:00 PSTno23:47Single Cell Omics and Cellular Immunology45Illumina Genomics PodcastNGS-based single cell genomics techniques can characterize the genetic material of millions of individual cells isolated from bulk tissues. These techniques have revolutionized our understanding of the type and nature of cells that exist in our bodies. Dr. Shalin Naik of the Walter and Eliza Hall Institute of Medical Research joined me to discuss his use of single cell omics to understand the immune system.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode45_Naik.mp3Wed, 19 Jun 2019 00:00:00 PSTno27:33Neglected Diseases and the Impact of NGS44Illumina Genomics PodcastNeglected tropical diseases primarily impact the world’s poor, and more than 1 billion people currently suffer from one of these neglected diseases. Professor Warwick Grant of La Trobe University joined me to discuss how genomics is being used to maximize the impact of treatment for river blindness, a neglected disease that affects as many as 35 million people in Africa.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode44_Grant.mp3Wed, 05 Jun 2019 00:00:00 PSTno25:50Rare Disease and the Diagnostic Odyssey43Illumina Genomics PodcastRare diseases affect millions of people around the world. Dr. Matt Might is Professor and Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama Birmingham. His son, Bertrand, was the first person to be diagnosed with NGLY1 deficiency, an ultra-rare disorder. Matt joined me to discuss Bertrand’s diagnostic odyssey and the impact of genomics on rare disease research.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode43_Might.mp3Thu, 23 May 2019 00:00:00 PSTno24:33Finding Bad Bugs with NGS42Illumina Genomics PodcastAt the recent European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) conference, I talked with microbiology experts employing next-generation sequencing (NGS) in clinical microbiology. Dr. Agathe Jouet of Genoscreen and Dr. Christophe Rodriguez of University Hospital Henri-Mondor joined me to discuss amplicon and shotgun sequencing to help diagnose infectious diseases.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode42_ECCMID2019.mp3Wed, 08 May 2019 00:00:00 PSTno30:42Genetics of Breast Cancer41Illumina Genomics PodcastAn average risk woman in the US has about a 1 in 8 chance of developing breast cancer. Breast tumors are genetically heterogeneous and can be classified into subtypes based on patterns of gene expression, DNA methylation, nucleotide substitutions and genomic rearrangements. Dr. Åke Borg is Professor of Oncology and Pathology at Lund University, and he joined me to discuss the genetics of breast cancer.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode41_Borg.mp3Thu, 25 Apr 2019 00:00:00 PSTno22:33Next Generation Science Education40Illumina Genomics PodcastScience, technology, engineering, and math (STEM) industries need creative and innovative employees now and into the future. Randy Schregardus is Student Programs Manager at the Van Andel Education Institute (vaei.vai.org), and he joined me to discuss advances in K-12 science education, the next generation science standards, and innovative science education programs at VAEI.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode40_Schregardus.mp3Mon, 08 Apr 2019 00:00:00 PSTno26:29Ancient DNA and Human History39Illumina Genomics PodcastWho am I, and where do I come from? We’re all interested in these fundamental human questions. Recently, genomic analysis of ancient human DNA has refined our understanding of human history and biology. Dr. Eske Willerslev of the Universities of Cambridge and Copenhagen joins me for a fascinating discussion about ancient DNA, human biology, and human history.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode39_Willerslev.mp3Wed, 20 Mar 2019 00:00:00 PSTno30:21The Magic of Stem Cells and Embryogenesis38Illumina Genomics PodcastWe all start life as a single egg cell, but after fertilization we grow into a large organism containing about 40 trillion diverse and specialized cells. Embryogenesis is the developmental process by which an embryo forms and develops, and it’s enabled by stem cells. Dr. Amy Ralston of Michigan State University joins me to talk about genomics, stem cells, and embryogenesis.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode38_Ralston.mp3Wed, 06 Mar 2019 00:00:00 PSTno20:49Immune Cells and Their Search for Energy37Illumina Genomics PodcastMetabolic changes in immune cells can alter immune system biology. So, understanding how immune cells get energy is important for understanding immune. Drs. Connie Krawczyk and Rusty Jones of the Van Andel Research Institute (vari.vai.org) talk about omics technologies for studying immunometabolism. To learn more about the Metabolic and Nutritional Programming team visit russelljoneslab.vai.org.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode37_Krawczyk-Jones.mp3Thu, 21 Feb 2019 00:00:00 PSTno29:01Environmental and Societal Impact of Microbes36Illumina Genomics PodcastOur biggest environmental challenges ultimately relate to microbes, so studying microbes in nature is important for understanding the health of our planet. Dr. James Tiedje is Distinguished Professor and Director of the Center for Microbial Ecology at Michigan State University. He joins me to discuss the use of genomics to better understand microbial functions in their environment.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode36_Tiedje.mp3Wed, 06 Feb 2019 00:00:00 PSTno20:46Genomics 2018 Looking Back and Looking Ahead35Illumina Genomics Podcast2018 was an awesome year for genomics and genomics research. In this special compilation episode, I’ll share some of our 2018 podcast highlights and future predictions for genomics – where we were in 2018, and where we’re going in 2019 and beyond.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/Illumina Genomics Podcast - Episode 35_MIX.mp3Wed, 23 Jan 2019 00:00:00 PSTno25:14Estonia is a Model for Precision Healthcare34Illumina Genomics PodcastDr. Tõnu Esko is Deputy Director of Research at the Estonian Biobank of the University of Tartu. He joins me to talk about the Estonian Biobank and to explain how Estonia aims to create a national system to enable precision healthcare through genomic profiling.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode34_Esko.mp3Wed, 09 Jan 2019 00:00:00 PSTno24:48RNA Sequencing is a Cell Biology Tool33Illumina Genomics PodcastDr. Joshua Weiner is Professor of Biology at the University of Iowa and Associate Director of the Iowa Neuroscience Institute. His lab uses a wide range of molecular and cell biology techniques to study the brain. Josh is a cell biologist by training, but he joins me to share his experiences on recently incorporating next-generation sequencing, or NGS, to complement his cell biology work.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode33_Weiner.mp3Tue, 18 Dec 2018 00:00:00 PSTno26:40Genome Editing and CRISPR-Cas932Illumina Genomics PodcastThe CRISPR-Cas9 genome editing system is enabling scientists to make specific DNA changes in the genomes of plants and animals and has the potential to greatly impact our world. Dr. Sam Sternberg, Assistant Professor of Biochemistry and Molecular Biophysics at Columbia University, joins me to discuss the biology and impact of CRISPR and genome editing.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode32_Sternberg.mp3Tue, 11 Dec 2018 00:00:00 PSTno27:20Noninvasive Prenatal Testing and NIPT31Illumina Genomics PodcastIn noninvasive prenatal testing (NIPT), a maternal blood sample provides maternal DNA as well as DNA from the pregnancy to screen prenatal chromosomal abnormalities using next-generation sequencing, or NGS. Dr. Ronald J. Wapner, Vice Chair of Research in Obstetrics and Gynecology for Columbia University, joins me to share his perspective on prenatal screening and NIPT.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode31_Wapner.mp3Thu, 01 Nov 2018 00:00:00 PSTno37:24Genomics of Long-Term Memory30Illumina Genomics PodcastLong-term memories can last from minutes to a lifetime, and they are associated with changes in synaptic activity and formation of neuronal circuits in the brain. Dr. Ted Abel is Professor at the University of Iowa and Director of the Iowa Neuroscience Institute. Ted joins me to discuss the transcriptional and epigenetic changes that are also associated with long-term memory.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode30_Abel.mp3Thu, 18 Oct 2018 00:00:00 PSTno23:57Genome Assembly and A Genomic Jigsaw Puzzle29Illumina Genomics PodcastSequencing a human genome requires 300 billion bases of DNA sequence, all of which need to be assembled – like a giant genomic jigsaw puzzle. Dr. Aleksey Zimin is Associate Research Scientist at Johns Hopkins University, and he joins me to discuss whole genome sequencing and assembly. He also discusses a novel method for creating phased genome assemblies.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode29_Zimin.mp3Wed, 03 Oct 2018 00:00:00 PSTno19:11Genetics of Deafness and Hearing Loss28Illumina Genomics PodcastHereditary deafness is a relatively common disorder that affects about 1 in 1000 newborns. Dr. Richard J. Smith is Professor of Otolaryngology at the University of Iowa, and he joins me to discuss the genetic basis of deafness. He also discusses the development of genomic tools to aid in genetic testing of heritable forms of hearing loss.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode28_RJSmith.mp3Wed, 19 Sep 2018 00:00:00 PSTno20:55Genetics of Autism and Psychiatric Disorders27Illumina Genomics PodcastAutism is a complex psychiatric disorder that affects 1 in 59 children in the United States. Dr. Jacob Michaelson is Associate Professor of Psychiatry at the University of Iowa and uses genomic and computational techniques to study autism and other psychiatric disorders. He joins me to discuss the genetics of autism and (sparkforautism.org).http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode27_Michaelson.mp3Wed, 05 Sep 2018 00:00:00 PSTno21:25Genomics and Preimplantation Genetic Screening26Illumina Genomics PodcastIn vitro fertilization (IVF) is a reproductive technology used to overcome infertility, an inability to become pregnant that affects 1 in 6 couples. Dr. Nathan Treff is Chief Science Officer of Genomic Prediction in North Brunswick, New Jersey. He discusses the technology behind preimplantation genetic screening (PGS), a genetic test that may improve IVF success rates.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode26_Treff_V2.mp3Thu, 23 Aug 2018 00:00:00 PSTno22:18Large Scale Genetic Risk Profiling in Dementia25Illumina Genomics PodcastNeurodegenerative diseases are characterized by the death of brain tissues. The causes are unknown, and no effective therapies are available. These diseases can lead to dementia, a medical and economic challenge for society. The UK Dementia Research Institute and Illumina recently hosted a panel of experts to discuss the genetics of dementia, and we feature highlights in this episode.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode25_UKDementiaV2.mp3Thu, 09 Aug 2018 00:00:00 PSTno24:35Eczema and the Human Skin Microbiome24Illumina Genomics PodcastAtopic dermatitis (eczema) is a skin inflammation disorder that affects nearly 20% of people. The causes are unknown, but it has been associated with changes in the human skin microbiome. Dr. Julie Segre is Chief of the Translational and Functional Genomics Branch at the NHGRI, in Bethesda, MD. She discusses how NGS is used to study the human skin microbiome and eczema.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode24_Segre.mp3Thu, 12 Jul 2018 00:00:00 PSTno18:50Using Genetics to Predict Heart Attack Risk23Illumina Genomics PodcastFamilial hypercholesterolemia is a genetic disorder leading to elevated cholesterol and early cardiovascular disease. Globally, about 1 in 250 people are affected, but only 10% have been diagnosed. Dr. Guillaume Paré is Professor of Medicine at McMaster University in Hamilton, Ontario, Canada. He discusses how genetics can help identify people at risk of heart attack.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode23_Pare.mp3Wed, 27 Jun 2018 00:00:00 PSTno21:32Out of Africa and Genetics of the African Diaspora22Illumina Genomics PodcastAfrican populations migrated out of Africa between the 15th and 19th centuries. Understanding the genetics of this African diaspora is providing important insights in human history, health, and disease - especially in populations of African ancestry. Dr. Charles Rotimi of the NHGRI in Bethesda, MD, discusses his research in the genomics of the African diaspora.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode22_Rotimi.mp3Fri, 15 Jun 2018 00:00:00 PSTno19:13Cancer Epigenomics and A Cacophony of Gene Expression21Illumina Genomics PodcastCancer is the second leading cause of death globally. Cancer is driven by DNA sequence errors in genes, or by gene expression changes without DNA sequence errors. This latter process is called epigenetics, and we discuss epigenetics and epigenomics of cancer with Dr. Peter Scacheri, Professor of Genetics and Genome Sciences at Case Western Reserve University in Cleveland, OH.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode21_Scacheri.mp3Thu, 07 Jun 2018 00:00:00 PSTno18:50Rare Genes and Rare Diseases20Illumina Genomics PodcastUp to 30 million Americans and 30 million Europeans are currently living with a rare disease. Most are caused by changes in genes but identifying these causative gene sequences can be extremely difficult. Dr. Charis Eng, Chair of Cancer Genomic Medicine at the Cleveland Clinic, discusses the genomics of Cowden's Syndrome, cancer risk, and precision medicine.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode20_Eng.mp3Wed, 23 May 2018 00:00:00 PSTno17:24NHGRI's 2020 Vision for Genomics19Illumina Genomics PodcastThe National Human Genome Research Institute, or NHGRI, has launched a new round of strategic planning to establish a 2020 vision for genomics. In a celebration of National DNA Day 2018, Dr. Eric Green, the Director of the NHGRI, joins us for a discussion of the Human Genome Project, the state of genomics today, and where genomics is likely headed in the future.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode19_Green.mp3Sun, 22 Apr 2018 00:00:00 PSTno30:19Genetics of Children's Complex Diseases From GWAS to NGS18Illumina Genomics PodcastComplex diseases are associated with genetic, environmental, and lifestyle factors. Genome-wide association studies, or GWAS, use arrays to identify DNA variants associated with traits or diseases. Professors Struan Grant and Andrew Wells of the Children's Hospital of Philadelphia discuss how they use NGS to map variants to causal genes.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode18_Grant_FINAL.mp3Wed, 11 Apr 2018 00:00:00 PSTno19:04Genomics of Endosymbiosis and Cells Within Cells17Illumina Genomics PodcastEukaryotic cells and their membrane bound organelles evolved from the uptake of a prokaryotic cell into another cell - a process called endosymbiosis. Professors Bebashish Bhattacharya and Dana Price of Rutgers University discuss how single-cell genomics of algae can help unravel the mystery of endosymbiosis and its impact on our health and the environment.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode17_Bhattacharya.mp3Thu, 29 Mar 2018 00:00:00 PSTno17:45Brain on Fire and Genomics of Neuroinflammation16Illumina Genomics PodcastEncephalitis is a brain inflammation that affects 4 million people worldwide. Although caused by infection or by autoimmunity, 50% of cases are never explained. Dr. Michael R. Wilson is Assistant Professor of Neurology at the University of California San Francisco. He discusses how genomics can help us understand the causes of brain inflammation.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode16_Wilson.mp3Wed, 14 Mar 2018 00:00:00 PSTno18:29Human Gut Microbiome and Beneficial Bacteria15Illumina Genomics PodcastThe human gut microbiome includes trillions of microbes that are important in health and disease. Genomics has revolutionized our knowledge of human gut microbial complexity. Dr. Ami Bhatt is Professor of Medicine and Genetics at Stanford University. She and her PhD student, Jessica Ribado, discuss how the human gut microbiome impacts human health.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode15_Bhatt.mp3Thu, 22 Feb 2018 00:00:00 PSTno17:35Single Cell Genomics and Cell Ontology14Illumina Genomics PodcastCell ontology is the vocabulary for defining cell types, and it's important in biology. Single-cell genomics is revolutionizing cell ontology but combining large data sets with classical knowledge is challenging. Dr. Richard Scheuermann, La Jolla Campus Director at the Venter Institute, discusses single-cell sequencing and computational methods to classify cell types.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode14_Scheuermann.mp3Thu, 08 Feb 2018 00:00:00 PSTno18:56The Human Genome and What We Are Missing13Illumina Genomics PodcastThe human genome was completely sequenced in 2003 - or, was it? Robert Fulton discusses his efforts to try and finally complete the human genome and to build a better human genome reference. Bob is Professor of Genetics at the Washington University School of Medicine, and Director of Development at the McDonnell Genome Institute in Saint Louis, Missouri.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode13_Fulton.mp3Thu, 25 Jan 2018 00:00:00 PSTno16:14Human Microbiome and Our Second Human Genome12Illumina Genomics PodcastWe live in harmony with trillions of microbes in and on our bodies - the human microbiome. These microbes outnumber your cells by 10 to 1, and their genes outnumber yours by 100 to 1. But, what do they do? Dr. Kristine and Todd Wylie, Professors of Pediatrics at Washington University in St. Louis, discuss how they use NGS to understand the human microbiome and its association with health.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode12_Wiley_FINAL.mp3Mon, 27 Nov 2017 00:00:00 PSTno14:38Targeted NGS Empowers Genetic Testing11Illumina Genomics PodcastAccording to the US National Library of Medicine's Genetic Testing Registry, 10,000 conditions can be identified with genetic testing. The high-throughput and relatively low cost of NGS is advantageous for multigene testing. Dr. Samuel Myllykangas, co-founder of Blueprint Genetics, discusses how current and future NGS innovations may impact genetic testing.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode11_Myllykangas.mp3Fri, 03 Nov 2017 00:00:00 PSTno15:19Childhood Cancer Risk and Genetics10Illumina Genomics PodcastAccording to the US National Cancer Institute, 15,000 children and adolescents will be diagnosed with cancer in the United States this year. Fortunately, research has improved the outlook for children with cancer. Dr. Todd Druley, Professor of Medicine at Washington University, discusses how next-generation sequencing is reshaping our understanding of childhood cancer risk and biology.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode10_Druley.mp3Fri, 20 Oct 2017 00:00:00 PSTno16:59Genomics and Protecting Endangered Species9Illumina Genomics PodcastThe critically endangered Saimaa ringed seal is found only in Lake Saimaa, in Finland. Their isolation makes them an excellent model system for studying population and genetic bottlenecks. Dr. Petri Auvinen is a Research Director at the University of Helsinki in Finland. He discusses the Saimaa ringed seal genome project and its impact on saving this animal species from extinction.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode9_Auvinen.mp3Fri, 06 Oct 2017 00:00:00 PSTno12:09Making Sense of Cancer Genomes8Illumina Genomics PodcastTo enable precision medicine in cancer, health care providers need a solid understanding of genetic information. Drs. Obi and Malachi Griffith are Professors of Medicine at Washington University in St. Louis, MO. They discuss their work in improving bioinformatics education and improving clinical interpretations of sequence variants in cancer.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode8_Griffith.mp3Fri, 22 Sep 2017 00:00:00 PSTno15:48RNA Sequencing in Diagnostics7Illumina Genomics PodcastPersonalized medicine involves using a patient's genomic information to better predict disease risk, prognosis, and treatment response. Current genomics-based diagnostic platforms typically use DNA. Dr. Dave Messina is Chief Operations Officer at Cofactor Genomics in St. Louis, MO. He discusses the benefits and the challenges in using RNA sequencing as a diagnostics platform.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode7_Messina.mp3Fri, 08 Sep 2017 00:00:00 PSTno15:11Genomics and Immune Diseases6Illumina Genomics PodcastIn the United States, autoimmune diseases affect 24 million people, resulting in 100 billion dollars of direct health costs annually. Dr. Janna Saarela is Research Director at the Finnish Institute of Molecular Medicine (FIMM) in Helsinki, Finland. She discusses her use of genomics to identify pathogenic mechanisms behind common and rare immune diseases.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode6_Saarela.mp3Fri, 25 Aug 2017 00:00:00 PSTno15:14Food Spoilage and Genomics5Illumina Genomics PodcastFood spoilage in global supply chains costs over 35 billion US dollars annually. Despite these costs, we still don't exactly know what makes food spoil. Dr. Johanna Bjorkroth is Professor of Food Hygiene and Environmental Health at the University of Helsinki. She discusses her use of genomics to identify the microbial causes of food spoilage.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode5_Bjorkroth.mp3Thu, 10 Aug 2017 00:00:00 PSTno13:37Finnish Genetics Aid Disease Research4Illumina Genomics PodcastThe country of Finland is the largest population isolate in Europe, with a number of rare alleles enriched in the Finnish population. Dr. Hannele Laivuori and Dr. Mervi Kinnunen coordinate the Sequencing Initiative Suomi and Industry Partnership for Human Genetics projects. They discuss how Finnish genetic information is being used to help disease research.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode4_Laivuori.mp3Fri, 07 Jul 2017 00:00:00 PSTno12:51The EMBL Genomics Core Facility3Illumina Genomics PodcastNext generation sequencing, or NGS, has helped to fuel amazing scientific discoveries across a wide range of scientific disciplines. Dr. Vladimir Benes directs the EMBL Genomics Core Facility, and he recently sat down with us to discuss how genomics has impacted and enabled scientific research at EMBL and abroad.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode3_Benes.mp3Tue, 06 Jun 2017 00:00:00 PSTno13:47Uncovering Enhancer Hijacking Events in Cancer2Illumina Genomics PodcastGenetic variation can impact our susceptibility to developing diseases, like cancer. Dr. Jan Korbel of the EMBL discusses his search for structural variants by using an approach combining computational and laboratory methodology. He discusses his recent work to uncover enhancer hijacking events in cancer.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP_Episode2_Korbel.mp3Tue, 23 May 2017 00:00:00 PSTno15:43Single-Cell Genomics and Mars1Illumina Genomics PodcastMicrobes have been around for billions of years, and they continue to shape our planet and all life on it. Dr. Ramunas Stepanasukas of the Bigelow Laboratory for Ocean Sciences explains how single-cell genomics can help us to better understand microbial diversity and microbial biology. He even discuss how single-cell genomics can help us in our exploration of other planets, like Mars.http://support.illumina.com/content/dam/illumina-marketing/media/podcasts/IGP-Episode1_Stepanauskas.mp3Thu, 30 Mar 2017 00:00:00 PSTno15:33