Exploring the fascinating world of genetics and its impact on human health! We break down complex science topics like DNA, genome wide association studies, CRISPR gene editing, and epigenetics into accessible conversations. Join us for weekly episodes covering cutting-edge biology research and how your genome shapes your health. Subscribe for the latest genetic discoveries explained simply!
The Duffy antigen gene (DARC) mutation and GATA1 transcription factor binding site explain how a single T-46C promoter variant causes the Duffy-negative blood type and natural resistance to Plasmodium vivax malaria.
Paper discussed in the video:
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy–negative individuals
https://www.nature.com/articles/ng0695-224
Tools I use to make these type of videos:
https://e2g.stanford.edu/
25 Jul 2026
The ZPBP2 Asthma Gene Explained in 9 Minutes
Rs12936231, one tiny DNA switch on chromosome 17 raises your risk of asthma, type 1 diabetes, and 3 other autoimmune diseases at once. We trace the real biobank data live and reveal how a weakened CTCF boundary explains it all.
Paper discussed in the video:
Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease
https://doi.org/10.1016/j.ajhg.2009.08.007
Tools I use to make these type of videos:
https://platform.opentargets.org/
https://e2g.stanford.edu/
https://github.com/statgen/pheweb
https://smart.embl.de/smart/change_mode.cgi
17 Jul 2026
Finnish? this mutation → brain cancer
A single DNA letter (rs55705857) makes Finns 6x more likely to get brain cancer. We trace it live from FinnGen PheWAS to AlphaFold to reveal how it hijacks the MYC oncogene.
Paper discussed in the video:
A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation https://www.science.org/doi/full/10.1126/science.abj2890 (https://www.science.org/doi/full/10.1126/science.abj2890)
Tools I use to make these type of videos:
https://platform.opentargets.org/ (https://platform.opentargets.org/)
https://e2g.stanford.edu/ (https://e2g.stanford.edu/)
https://github.com/statgen/pheweb (https://github.com/statgen/pheweb)
29 Sept 2025
The Killer Gene That FOUGHT BACK
In this deep dive, we break down the journey of the PIM Kinase target. We explore the complex PIM1 molecular mechanism, examine why first-generation pan-PIM inhibitors like AZD-1208 faced safety issues and a lack of monotherapy efficacy, and reveal the final clinical verdict of the Terminated and Completed Phase 1 studies.
📖 Video Chapters:
0:00 - Intro
1:05 - Biobanks Associations for PIM1
22:18 - PIM1 Gene
39:00 - PIM1 Protein
52:52 - PIM1 Known Drugs and Clinical Trials
24 Sept 2025
The Mysterious Gene Behind Blood Clots
Disclaimer: This video is for educational purposes only and should not be used for medical diagnosis or treatment decisions. Always consult with healthcare professionals for medical advice.
In this episode, we explore the association between the PEAR1 gene and various platelet disorders. Using data and research, we aim to explain the significance of platelet count and the effects of thrombocytopenia and low platelets in these conditions. This includes genetic analysis of the genome.
#genetics (https://www.youtube.com/hashtag/genetics) #blood (https://www.youtube.com/hashtag/blood) #platelets (https://www.youtube.com/hashtag/platelets)
KGWAS is a novel geometric deep learning method that leverages a massive functional knowledge graph across variants and genes to significantly improve detection power in small-cohort GWASs. Thank you, Kexin Huang and Martin Jinye Zhang, for joining me on this one.Preprint:https://www.medrxiv.org/content/10.11... (https://www.youtube.com/redirect?event=video_description&redir_token=QUFFLUhqa0dLOVFWaGYxd2I0ZzdjWFhMc1o1QXBjRlFtUXxBQ3Jtc0ttZDVSTGtyWGlaX3NITTVCd2h0ZFJBcHYwSnVvcTlqMWtQVXBkMy1mZjhQaHg5dzJKUF9uZGlxM1pEeGoxbFVydzFidnlGVkJfSDh0QkhrbXdOZmY5aFpqcThvYm4tRjRJd3NzRF9JbkN0V0pZeGJMaw&q=https%3A%2F%2Fwww.medrxiv.org%2Fcontent%2F10.1101%2F2024.12.03.24318375v1&v=s1tNhMgXonE)GitHub Page:https://github.com/snap-stanford/KGWAS (https://www.youtube.com/redirect?event=video_description&redir_token=QUFFLUhqbFRySVg3S1dWSXp4VkZ1RGlIRjJLYkVvazFBZ3xBQ3Jtc0tuQlhQOWhtUEM1ZUFsQzFFeV9HbURfb2pkSHNncWIxUEUxSnZUMllOMjV0SHpOTDdDRnY5bXhrZHMycVAwa3NOVDQ2ZDY4NmFQeVJOcWQwZmczcTZYcGJRaXFQVUk4aVc5S2dldnZ5aEFiOEN3TjNXUQ&q=https%3A%2F%2Fgithub.com%2Fsnap-stanford%2FKGWAS&v=s1tNhMgXonE)Official Website:https://kgwas.stanford.edu/ (https://www.youtube.com/redirect?event=video_description&redir_token=QUFFLUhqbDRLS0hXajBjUnJ3UWZKT3BtaFRaSm5LOERtd3xBQ3Jtc0trZ0tGQTdkQ1JQZ2RnWnN1Z1gwME16UWdrY1I5cWNrVEplVWxILU42djhXeGR1VTM0V2tZZ1ZHS2M5MmVQdXdRb25UUWRiVUlNOXFGaXlHaml2Um0tcExJaXg5V3pzaXZuLUxhQ3ZzVjBqaHp5N1RMMA&q=https%3A%2F%2Fkgwas.stanford.edu%2F&v=s1tNhMgXonE)
📖 Video Chapters:0:00 (https://www.youtube.com/watch?v=s1tNhMgXonE) - Introduction to Rare Disease Genetics Problem0:54 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=54s) - Welcome & Paper Overview1:22 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=82s) - What is KGWAS? The Elevator Pitch2:41 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=161s) - Why Finding More GWAS Hits Matters4:46 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=286s) - Origin Story: Collaboration with GSK6:09 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=369s) - Knowledge Graph Architecture Overview7:36 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=456s) - Building the Variant-Gene-Pathway Network9:55 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=595s) - Handling Linkage Disequilibrium (LD) Challenges13:55 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=835s) - Training the Large-Scale Graph Neural Network14:16 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=856s) - Model Training Requirements and Scalability15:22 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=922s) - Open Source Availability and Accessibility16:05 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=965s) - Scaling to Whole Genome Analysis17:12 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1032s) - Figure 2: Validation Through Simulations18:24 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1104s) - UK Biobank Downsampling Experiments20:04 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1204s) - Precision-Recall Performance Results21:00 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1260s) - Figure 3: Real-World Disease Applications21:38 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1298s) - Ulcerative Colitis Case Study Example22:48 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1368s) - Experimental Validation of Ulcerative Colitis Discovery24:03 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1443s) - Myasthenia Gravis Case Study Analysis26:10 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1570s) - Knowledge Graph Component Analysis and Ablation Studies27:54 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1674s) - Tissue-Specific vs Context-Agnostic Approaches32:03 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=1923s) - Figure 4: Network Interpretation and Attention Mechanisms36:30 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=2190s) - Alzheimer's Disease Network Visualization40:01 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=2401s) - Drug Development Applications and Implications41:15 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=2475s) - Post-GWAS Era Applications and End-to-End Solutions43:01 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=2581s) - Figure 5: Compatibility with Existing GWAS Tools48:16 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=2896s) - Population Diversity and Cross-Ancestry Applications49:41 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=2981s) - Future Directions and Technical Improvements52:16 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=3136s) - Input/Output Requirements and Computational Resources54:28 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=3268s) - Website Demo and Interactive Features56:59 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=3419s) - PhD Student Advice and Research Philosophy59:36 (https://www.youtube.com/watch?v=s1tNhMgXonE&t=3576s) - Closing Remarks
18 Aug 2025
Low overlap of transcription factor DNA binding and regulatory targets
This podcast was made possible by CIUT-FM 89.5, University of Toronto Community Radio. For more content visit https://ciut.fm/
Link to the paper:
https://www.nature.com/articles/s41586-025-08916-0
Join me in a conversation with two of the authors, Lakshmi Mahendrawada and Steven Hahn.
17 Jul 2025
How One Woman's Cells Created Billion-Dollar Treatments (K562 Masterclass)
This podcast was made possible by CIUT-FM 89.5, University of Toronto Community Radio. For more content, visit https://ciut.fm/
Join us for this comprehensive masterclass episode as we explore the fascinating world of K562 cells with Dr. Tom Karagiannis, who has worked with these remarkable cells for almost three decades. From his first encounter with them as a young researcher in 1996 during the exciting era of targeted therapy development, Dr. Karagiannis shares both the scientific breakthroughs and practical realities of working with these "weeds" of the lab.
📖 Video Chapters:
0:00 - The 1917 Origin Story: A Woman's Legacy
2:40 - Interview Begins: Dr. Tom Karagiannis on K562 Basics
5:42 - The 1990s Gleevec Revolution: Why K562 Cells Became Essential
7:10 - The Lozio Discovery: From Patient to Immortal Cell Line
8:48 - What Makes K562 Cells Special: Continuous Growth vs Normal Cells
10:36 - Cell Culture Evolution: From Glass Pipettes to Modern Labs
12:18 - Historical Context: HeLa Cells to Cancer Virus Research
14:26 - The Philadelphia Chromosome: Understanding the Genetic Driver
17:06 - Gleevec Revolution: The First Targeted Cancer Therapy
19:48 - K562 Cell Genetics: The Near-Triploid Puzzle
21:00 - Cell Differentiation: Research Applications and Advantages
24:08 - Transferrin Receptor Research: Dr. Tom's Early Work
28:37 - K562 Cells as "Weeds": Why They're So Easy to Grow
33:08 - Evolution of Cancer Research: From Targeted Therapy to CAR-T
35:42 - Personal Research Stories: Genetic Discoveries and Insights
36:03 - Genetic Discoveries: Novel Chromosomes and Cellular Evolution
42:27 - Drug Resistance Studies: Creating Doxorubicin-Resistant Cell Lines
44:12 - Epigenetic Research: HDAC Inhibitors and Combination Therapies
49:16 - Combination Therapy Mechanisms: How HDAC Inhibitors Enhance Chemotherapy
50:40 - Drug Resistance Reality: Gleevec Limitations and Cancer Stem Cells
53:54 - K562's Continued Value: Why Genetic Drift Doesn't Diminish Research Utility
57:27 - PhD Advice
28 Jun 2025
Diabetes, GWAS, Biobanks | Dr. Andrew Paterson
Dr. Andrew Paterson discusses the promise and limits of genome-wide association studies in diabetes research, the importance of the X chromosome, and how biobanks shape precision medicine in this interview.
20 Feb 2025
Nextflow, nf-core pipelines, MultiQC
Bioinformatician Phil Ewels discusses MultiQC's role in quality control, the standardization philosophy behind nf-core, and the potential impact of AI on bioinformatics workflows in this interview with Mike Kazemi.
10 Dec 2024
How Genomics Shapes Public Health in Bangladesh | Dr. Senjuti Saha
Dr. Senjuti Saha discusses how genomics shapes public health in Bangladesh, highlighting her work on pediatric meningitis and equitable science education in this interview.
7 Aug 2023
S1E6 - Ethical Crossroads in Genomics | Dr. Yann Joly
Dr. Yann Joly explores the ethical considerations within genomics, focusing on data access and genetic discrimination, in an interview about the intersection of law, ethics, and scientific advancement.
25 Jun 2023
S1E5 - Human Pangenome Reference | Cristian Groza
Cristian Groza, a bioinformatics Ph.D. student, explores the complexities of the human pangenome reference and its implications for understanding genetic diversity in this interview.
13 May 2023
S1E4 - Cholesterol and Parkinson's: A Genetic Dance of Sex Differences | Dr. Sarah Gagliano Taliun
Dr. Sarah Gagliano Taliun explores the genetic connection between cholesterol and Parkinson's disease, highlighting sex differences and personalized medicine approaches in this interview with host Mike Kazemi.
30 Apr 2023
S1E3 - Identifying GWAS target genes with STING-seq | Dr. John A. Morris
Dr. John A. Morris, a Postdoctoral Scientist, discusses identifying GWAS target genes using STING-seq in this interview episode.
1 Apr 2023
S1E2 - Genome-wide association studies (GWAS) | Dr. Daniel Taliun
Dr. Daniel Taliun, Human Genetics Assistant Professor, discusses genome-wide association studies and computational algorithms for analyzing genetic data in this interview with Mike Kazemi.
24 Mar 2023
S1E1 - Genome Editing and CRISPR/Cas9 | Dr. Raquel Cuella Martin
Dr. Raquel Cuella Martin discusses precision genome editing to understand the DNA damage response and its connection to human disorders in this interview.
Who has been a guest on Double-stranded
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Dr Andrew Paterson
Phil Ewels
Dr Senjuti Saha
Dr Yann Joly
Cristian Groza
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Mike Kazemi host the show. Published by Mike Kaz.
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