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/

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

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

Tools I use to make these type of videos:

https://platform.opentargets.org/

https://e2g.stanford.edu/

https://github.com/statgen/pheweb

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

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 #blood #platelets

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.

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