Base by Base
by Gustavo Barra
Latest episode
475: A Cell Line Fitness Score Predicts Cancer Risk in Li-Fraumeni…
475: A Cell Line Fitness Score Predicts Cancer Risk in Li-Fraumeni…
About this podcast
Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time.
Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.
Episodes
The newest 20 of 476 episodes
- 475: A Cell Line Fitness Score Predicts Cancer Risk in Li-Fraumeni Syndrome · 10 min · Season 2 Episode 475Penkert J et al., The American Journal of Human Genetics - Carriers of disease-causing TP53 variants range from mild to severe cancer phenotypes. Using relative fitness scores…
- 474: Two collagen genes, two different risks · 20 min · Season 2 Episode 474Tzoumkas K et al., The American Journal of Human Genetics - COL4A3 and COL4A4 are paralogous genes that build the same collagen IV network in the kidney filter, and variant…
- 473: Sixty years of cells that stop dividing · 20 min · Season 2 Episode 473Klaver M et al., The EMBO Journal - In 1961, Hayflick and Moorhead showed that normal human fibroblasts divide only a finite number of times. This episode follows a review of the…
- 472: 490,319 genomes that fill the gaps in genetic studies · 18 min · Season 2 Episode 472Wienbrandt L et al., Nature Genetics - Most genetic studies read only a fraction of the genome and infer the rest from a reference panel. This episode covers a new panel built…
- 471: How cancer treatment picks winners among mutant clones in the normal esophagus · 18 min · Season 2 Episode 471Fowler J et al., Nature Genetics - Normal esophageal lining is a patchwork of mutant clones that compete for space as we age. This study asked whether cancer treatment changes…
- 470: The hidden swaps CRISPR leaves between sister chromosomes · 17 min · Season 2 Episode 470Chovanec P et al., eLife - When CRISPR/Cas9 cuts DNA, editing is usually judged by the small insertions and deletions left at the break. But a cut can also be repaired by…
- 469: What the shape of a face reveals about cleft risk · 18 min · Season 2 Episode 469Herrick N et al., Human Genetics and Genomics Advances - Orofacial clefts are among the most common birth defects, affecting about 1 in 700 births, yet known genetic signals…
- 468: When a splicing factor breaks in different ways · 18 min · Season 2 Episode 468Lisfeld J et al., The American Journal of Human Genetics - SRSF3 is an essential splicing factor, one of the serine/arginine-rich proteins that help cells cut and paste their RNA…
- 467: Finding mutations carried by fewer than 1 in 100 cells · 19 min · Season 2 Episode 467Jang Y et al., The American Journal of Human Genetics - Every cell in the body picks up its own small set of DNA changes over a lifetime, and many of these somatic mutations are…
- 466: A quieter MECP2 switch and the male bias in autism · 19 min · Season 2 Episode 466Meyer-Schuman R et al., The American Journal of Human Genetics - Autism is diagnosed about four times more often in male individuals than in female individuals, and one…
- 465: When a lysosomal storage gene shows up only in the retina · 20 min · Season 2 Episode 465Lin et al., The American Journal of Human Genetics - Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I, a lysosomal storage disorder that affects many…
- 464: Burning fat while sparing muscle on GLP-1 drugs, in mice · 18 min · Season 2 Episode 464Thorne et al., Proceedings of the National Academy of Sciences - GLP-1 receptor agonists such as semaglutide produce large weight loss, but part of what is lost is lean mass…
- 463: Why brain traits leave faint, common genetic signals · 18 min · Season 2 Episode 463Zhu et al., Proceedings of the National Academy of Sciences - Genome-wide studies of schizophrenia and other psychiatric disorders find hundreds of hits, yet those hits barely…
- 462: A vessel gene tied to AMD dims low-light vision in mice · 20 min · Season 2 Episode 462Cheng et al., Proceedings of the National Academy of Sciences - Genome-wide studies have found dozens of risk loci for age-related macular degeneration, but for many of them the…
- 461: Adult Ank3 loss quiets neurons and lowers a myelin protein · 25 min · Season 2 Episode 461Yoon et al., Proceedings of the National Academy of Sciences - ANK3, which encodes the scaffolding protein ankyrin-G, is a major risk gene for bipolar disorder and schizophrenia…
- 460: The lupus variant that also sharpens antiviral defense · 24 min · Season 2 Episode 460Virolainen et al., The American Journal of Human Genetics - A lupus signal on chromosome 11p15 narrows to a coding haplotype in IRF7 that most people in the world carry. This…
- 459: Cerebral palsy genetics: 515 candidate genes, evidence for 89 · 24 min · Season 2 Episode 459Arterbery et al., The American Journal of Human Genetics - Hundreds of genes have been reported as causes of cerebral palsy, yet there is no agreed model of what a pathogenic…
- 458: Somatic or inherited? Reading TP53 risk from shared DNA · 25 min · Season 2 Episode 458MacGregor et al., The American Journal of Human Genetics - Pathogenic TP53 variants found in blood have long been read as inherited Li-Fraumeni alleles, but many turn out to be…
- 457: A deletion that raises Alzheimer risk, a duplication that lowers it · 24 min · Season 2 Episode 457Quenez O et al., The American Journal of Human Genetics - Rare copy-number variants were called from 22,319 exomes covering early-onset Alzheimer disease, late-onset disease and…
- 456: Beyond exons: where heritability hides as traits get more polygenic · 46 min · Season 2 Episode 456Fuhrer J et al., The American Journal of Human Genetics - Across 34 complex traits and disorders, a MiXeR-based framework partitions SNP heritability over 74 functional…
