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 episode

2:07 - Welcome to Dr. Paterson & What Diabetes Really Is

3:11 - Monogenic, Type 1 & Type 2 — Mapping the Diabetes Family

5:11 - Life Before Insulin: Why Early Type 1 Was Fatal

6:46 - Where Each Diabetes Type Sits on the Genetic Spectrum

8:02 - HLA Breakthroughs: Early Genetic Clues to Type 1

8:45 - Childhood & Ancestry Risk: Who Gets Diabetes?

9:40 - Industrialization and the Type 2 Surge

10:55 - Do the Stats Match Patients in Clinic?

11:40 - Why Dr. Paterson Chose Diabetes & Genetics

14:02 - Genetics vs Confounding: Tracing Causal Pathways

16:17 - How Geneticists Link Variants to Disease

17:57 - 1 Billion SNPs & Linkage Disequilibrium 101

18:45 - SNP Arrays: From $1,000 to $20 Per Genome

20:07 - Whole-Genome Sequencing vs Genotyping Chips

20:58 - Cleaning Genotype Data: QC Essentials

21:49 - Regression Basics: Testing SNP–Trait Links

22:57 - Blood or Saliva? Where GWAS DNA Comes From

25:00 - The DCCT Trial & Its Landmark Design

26:44 - Conventional vs Intensive Diabetes Therapy

28:00 - C-Peptide: Residual Beta-Cell Function Insights

30:28 - Genetics, Environment & the Polygenic Reality

32:07 - Biobanks Power the Modern GWAS Boom

33:43 - Mega-Datasets: UK Biobank & Million Veteran Program

34:59 - Landmark 2010 Discovery: Gene for Glycemic Control

36:40 - Mining DCCT’s Longitudinal A1C Data with GWAS

38:44 - Diabetes-Specific Variant & DCCT’s Selective Cohort

40:00 - Conventional vs Intensive Therapy in the DCCT

41:50 - From Finger-Prick Meters to Continuous Glucose Monitors

42:48 - Breakthrough #2: COL4A3 Variant That Protects Kidneys

45:35 - Meta-GWAS Uncovers a Protective Missense Allele

47:49 - COL4A3 Minor Allele: Reduced DKD Risk

48:56 - RAST Trial & Renal Biopsy Insights

49:52 - GBM Thickness Links Genetics to Pathology

50:45 - Diabetes-Specific Gene-Environment Interaction

52:12 - Type 2 Diabetes: Power & Confounders

52:55 - Variant-to-Function Workflow: Starting the Hunt

53:45 - Tools: GWAS Catalog & GTEx for Functional Clues

55:39 - GTEx & eQTLs — Turning GWAS Hits into Gene-Expression Clues

56:46 - pQTL Goldmines: UK Biobank, deCODE & Plasma Proteomics

57:36 - From Association to Biology: How Long Does Functional Follow-Up Take?

58:49 - Modeling COL4A3 in Diabetic Mice: A Roadmap for Mechanistic Proof

60:05 - Genetics at the Top of the Drug-Discovery Funnel

61:01 - Why Genetic Targets Double a Drug’s Odds of Success

62:35 - Stop Skipping the Sex Chromosomes! X & Y in GWAS Explained

1:03:35 - Cracking the X-Chromosome Problem

1:04:30 - Imputation & Meta-Analysis Fixes

1:05:59 - Quality Concerns: Why Researchers Hesitate

1:06:55 - Polygenic Scores Need X-Linked Signals

1:07:33 - Is the Field Getting Better?

1:08:30 - Publishing Standards & Acronym Debates

1:09:12 - So… What Does This Mean for the Average Person?

1:10:53 - Precision Screening: Genetics Guides Cancer Checks

1:11:28 - From Promise to Practice: Genes in Everyday Care

1:12:03 - Career Wisdom for Aspiring Researchers