Double-stranded

Author: Mike Kaz

Geneticsfrom classic heredity to cutting-edge gene editing. Join top researchers and grad students as we explore the latest breakthroughs. Perfect for experts and the curious alike. Produced in collaboration with CIUT Radio.
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Genres: Life Sciences, Science

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Diabetes, GWAS, Biobanks | Dr. Andrew Paterson
Saturday, 28 June, 2025

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