Base by Base

473: Sixty years of cells that stop dividing

Klaver 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 revie

472: 490,319 genomes that fill the gaps in genetic studies

Wienbrandt 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

471: How cancer treatment picks winners among mutant clones in the normal esophagus

Fowler 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 ch

470: The hidden swaps CRISPR leaves between sister chromosomes

Chovanec 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

Herrick 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 sign

468: When a splicing factor breaks in different ways

Lisfeld 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 t

467: Finding mutations carried by fewer than 1 in 100 cells

Jang 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 mutati

466: A quieter MECP2 switch and the male bias in autism

Meyer-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 e

465: When a lysosomal storage gene shows up only in the retina

Lin et al., The American Journal of Human Genetics - Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I, a lysosomal storage disorder that affects

464: Burning fat while sparing muscle on GLP-1 drugs, in mice

Thorne 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 m

463: Why brain traits leave faint, common genetic signals

Zhu 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 b

462: A vessel gene tied to AMD dims low-light vision in mice

Cheng 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 t

461: Adult Ank3 loss quiets neurons and lowers a myelin protein

Yoon 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 schizo

460: The lupus variant that also sharpens antiviral defense

Virolainen 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.

459: Cerebral palsy genetics: 515 candidate genes, evidence for 89

Arterbery 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 pathog

458: Somatic or inherited? Reading TP53 risk from shared DNA

MacGregor 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

457: A deletion that raises Alzheimer risk, a duplication that lowers it

Quenez 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 dise

456: Beyond exons: where heritability hides as traits get more polygenic

Fuhrer 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 a

455: Agentic genomics: the bottleneck moves from code to judgment

Corpas M et al., Cell Genomics - A Perspective arguing that autonomous AI agents which discover, configure and chain bioinformatics operations from natural-language instr

454: Efavirenz retarda a doença priônica mexendo no colesterol do cérebro [PT]

Ali T et al., JCI Insight - Um antirretroviral aprovado para HIV, dado por via oral em microdose, prolongou a sobrevida de camundongos que carregam a proteína priônica hu