Double-stranded

Dr. Andrew Paterson is a Senior Scientist in Genetics & Genome Biology at SickKids and a Professor at the Dalla Lana School of Public Health, University of Toronto. His work focuses on uncovering the genetic basis of diabetes and its complications.In this episode, we discuss the real promise—and current limits—of GWAS in diabetes research, why the X chromosome is still often ignored, how datasets like GTEx and UK Biobank are shaping the future of precision medicine, and what functional follow-up really looks like. If you're curious about the path from variant to function to treatment, this one’s for you.📖 Video Chapters:0:00 - Highlights of the episode2:07 - Welcome to Dr. Paterson & What Diabetes Really Is3:11 - Monogenic, Type 1 & Type 2 — Mapping the Diabetes Family5:11 - Life Before Insulin: Why Early Type 1 Was Fatal6:46 - Where Each Diabetes Type Sits on the Genetic Spectrum8:02 - HLA Breakthroughs: Early Genetic Clues to Type 18:45 - Childhood & Ancestry Risk: Who Gets Diabetes?9:40 - Industrialization and the Type 2 Surge10:55 - Do the Stats Match Patients in Clinic?11:40 - Why Dr. Paterson Chose Diabetes & Genetics14:02 - Genetics vs Confounding: Tracing Causal Pathways 16:17 - How Geneticists Link Variants to Disease17:57 - 1 Billion SNPs & Linkage Disequilibrium 10118:45 - SNP Arrays: From $1,000 to $20 Per Genome20:07 - Whole-Genome Sequencing vs Genotyping Chips20:58 - Cleaning Genotype Data: QC Essentials21:49 - Regression Basics: Testing SNP–Trait Links22:57 - Blood or Saliva? Where GWAS DNA Comes From25:00 - The DCCT Trial & Its Landmark Design26:44 - Conventional vs Intensive Diabetes Therapy28:00 - C-Peptide: Residual Beta-Cell Function Insights30:28 - Genetics, Environment & the Polygenic Reality32:07 - Biobanks Power the Modern GWAS Boom33:43 - Mega-Datasets: UK Biobank & Million Veteran Program34:59 - Landmark 2010 Discovery: Gene for Glycemic Control36:40 - Mining DCCT’s Longitudinal A1C Data with GWAS38:44 - Diabetes-Specific Variant & DCCT’s Selective Cohort40:00 - Conventional vs Intensive Therapy in the DCCT41:50 - From Finger-Prick Meters to Continuous Glucose Monitors42:48 - Breakthrough #2: COL4A3 Variant That Protects Kidneys45:35 - Meta-GWAS Uncovers a Protective Missense Allele47:49 - COL4A3 Minor Allele: Reduced DKD Risk48:56 - RAST Trial & Renal Biopsy Insights49:52 - GBM Thickness Links Genetics to Pathology50:45 - Diabetes-Specific Gene-Environment Interaction52:12 - Type 2 Diabetes: Power & Confounders52:55 - Variant-to-Function Workflow: Starting the Hunt53:45 - Tools: GWAS Catalog & GTEx for Functional Clues55:39 - GTEx & eQTLs — Turning GWAS Hits into Gene-Expression Clues56:46 - pQTL Goldmines: UK Biobank, deCODE & Plasma Proteomics57:36 - From Association to Biology: How Long Does Functional Follow-Up Take?58:49 - Modeling COL4A3 in Diabetic Mice: A Roadmap for Mechanistic Proof60:05 - Genetics at the Top of the Drug-Discovery Funnel61:01 - Why Genetic Targets Double a Drug’s Odds of Success62:35 - Stop Skipping the Sex Chromosomes! X & Y in GWAS Explained1:03:35 - Cracking the X-Chromosome Problem1:04:30 - Imputation & Meta-Analysis Fixes1:05:59 - Quality Concerns: Why Researchers Hesitate1:06:55 - Polygenic Scores Need X-Linked Signals1:07:33 - Is the Field Getting Better?1:08:30 - Publishing Standards & Acronym Debates1:09:12 - So… What Does This Mean for the Average Person?1:10:53 - Precision Screening: Genetics Guides Cancer Checks1:11:28 - From Promise to Practice: Genes in Everyday Care1:12:03 - Career Wisdom for Aspiring Researchers

If you’ve ever analyzed sequencing data, chances are you’ve used tools developed by Phil Ewels—whether you knew it or not. He’s the creator of MultiQC, a key developer behind Nextflow and nf-core, and a major advocate for making bioinformatics workflows scalable, reproducible, and user-friendly.In this episode, we dive into:🔬 How MultiQC became the standard for bioinformatics quality control⚙️ The philosophy behind nf-core and the trade-offs of workflow standardization🤖 The role of AI in bioinformatics—will machines build pipelines for us?🌍 The future of open-source collaboration and making workflows more accessibleIf you’ve ever struggled with workflow management, questioned reproducibility, or wondered where bioinformatics is heading, this is the episode for you.🎧 Tune in now to hear my conversation with Phil Ewels.🤝 Connect with Phil here: https://phil.ewels.co.uk/🐦 Tell me what you think of the episode on X: https://x.com/Mike__Kazemi

Welcome to today's episode. I'm excited to introduce our guest, Dr. Senjuti Saha, the Deputy Executive Director of the Child Health Research Foundation in Bangladesh. Dr. Saha is a trailblazer in genomic research and a passionate advocate for equitable science education. From her discovery of the chikungunya virus as a cause of pediatric meningitis to her leadership roles with the WHO and her program 'Building Scientists for Bangladesh,' Dr. Saha’s work bridges the gap between cutting-edge research and real-world impact in low- and middle-income countries. Today, we’ll dive into her journey, the challenges and opportunities in global health research, and her vision for the future. Stay tuned for an enlightening conversation.

Professor Joly is an internationally acclaimed figure in health law, intellectual property, and bioethics, leaving an enduring impact on the ethical landscape of modern medicine. With pivotal roles in the International Cancer Genome Consortium (ICGC) and the International Human Epigenome Consortium (IHEC), he has spearheaded the development and implementation of controlled access mechanisms in genomics research since 2009, influencing emerging models worldwide. With over 120 peer-reviewed publications, influential book chapters, and recognition such as the "Innovation Merit" award from the Quebec Bar, his influence extends to legal, ethical, and scientific domains. Testifying before esteemed bodies like the Council of Europe and the Canadian Senate, his expertise shapes genetic discrimination discourse. Inducted into the Canadian Academy of Health Sciences (CAHS), his current research navigates the intricate interplay of scientific knowledge, health law, and bioethics at the forefront of biotechnology and emerging health technologies. Check out Dr. Joly's latest research here: https://tinyurl.com/25ff2u5n Connect with me here: https://twitter.com/Mike__Kazemi This podcast is powered by Pinecast.

In this episode, we delve into the intricate world of the human pangenome with Cristian Groza, a Ph.D. student specializing in bioinformatics from Bourque lab at McGill University. A Draft Human Pangenome Reference paper Connect with Cristian here Connect with me here This podcast is powered by Pinecast.

Episode Notes Dr. Sarah Gagliano Taliun is a researcher affiliated with the Montréal Heart Institute and the Université de Montréal. She specializes in neurogenetics, complex traits, and genomics. Her research focuses on understanding genetic factors and tackling questions surrounding human health from a mechanistic and biological perspective. She employs state-of-the-art computational and bioinformatics approaches, including machine learning techniques, to study these genetic factors. Dr. Gagliano Taliun's work involves the development of predictive models that are specific to an individual's sex, contributing to personalized medicine. Using statistical and computational methods, she aims to uncover the underlying mechanisms and genetic components related to various health conditions. Her research has the potential to enhance our understanding of complex traits and advance the field of genomics. Her lab: https://sgagliano.github.io/ The paper discussed on the show: https://pubmed.ncbi.nlm.nih.gov/36119674/ Connect with me on Twitter: https://twitter.com/Mike__Kazemi This podcast is powered by Pinecast.

Episode Notes Dr. John A. Morris is a Postdoctoral Scientist at the New York Genome Center, supported by a NHGRI K99 Fellowship. His work aims to understand common human genetic variation through genome editing. connect with him on Twitter or LinkedIn. See STING-seq preprint here Check out these great Twitter threads on STING-seq here and here connect with me on Twitter https://linktr.ee/double_stranded

Episode Notes Dr. Daniel Taliun is a Human Genetics Assistant Professor at McGill University. His research interests are in developing computational algorithms and software tools for analyzing genetic data combined with molecular, behavioural, imaging and environmental data. His scope of research includes genomic and clinical data integration, web-based analytical tools and interactive visualizations, secure data sharing, distributed computational algorithms for in-house and cloud computing computational platforms, analysis of rare genetic variations across diverse populations, and gene-disease associations. Connect with me on Twitter: https://twitter.com/Mike__Kazemi This podcast is produced in collaboration with CKUT radio: https://ckut.ca/

Dr. Raquel Cuella Martin joined the Department of Human Genetics and the Canada Excellence Research Chair in Genomic Medicine as an assistant professor in August 2022. Dr. Martin's current research employs large-scale precision genome editing to investigate the DNA damage response and its connection to human disorders. Her lab aims to integrate DNA repair and checkpoint control activities to prevent tumorigenesis and preserve cellular homeostasis. The lab also explores how precision genome editing can help understand disease-associated genetic variation and advance intelligent drug design. Connect with her on Twitter: https://twitter.com/raquel_cuella Connect with me on Twitter: https://twitter.com/Mike__Kazemi This podcast is produced in collaboration with CKUT radio: https://ckut.ca/