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00:18:21

463: Why brain traits leave faint, common genetic...

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2026/10/04

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 barely clear the significance threshold and tend to be common variants, unlike traits such as LDL cholesterol. This study shows that other traits whose heritability is enriched in the central nervous system share the same pattern, that the pattern survives careful matching of statistical

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00:20:10

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

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2026/09/30

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 them the gene doing the work is unknown. This study combines AMD genetics with blood and retinal gene-expression data to prioritize nine candidate genes, screens them in zebrafish, and follows the strongest, CNN2, into knockout mice. Mice lacking Cnn2 lose sensitivity in dim light and to

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00:20:10

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

Base by Base ·

2026/09/30

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 them the gene doing the work is unknown. This study combines AMD genetics with blood and retinal gene-expression data to prioritize nine candidate genes, screens them in zebrafish, and follows the strongest, CNN2, into knockout mice. Mice lacking Cnn2 lose sensitivity in dim light and to

en-us

00:24:55

461: Adult Ank3 loss quiets neurons and lowers a...

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2026/09/24

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 schizophrenia, yet what it does in adult neurons has been unclear. This study deletes Ank3 from mouse forebrain excitatory neurons either before birth or from adolescence and finds a convergent adult profile: hyperactivity and less anxiety-like and depression-like behavior, with social behavior

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00:24:55

461: Adult Ank3 loss quiets neurons and lowers a...

Base by Base ·

2026/09/24

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 schizophrenia, yet what it does in adult neurons has been unclear. This study deletes Ank3 from mouse forebrain excitatory neurons either before birth or from adolescence and finds a convergent adult profile: hyperactivity and less anxiety-like and depression-like behavior, with social behavior

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00:24:13

460: The lupus variant that also sharpens antiviral...

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2026/09/21

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. This study shows the risk form moves into the nucleus more readily, binds DNA more tightly and shifts its sequence preference, raising interferon-alpha output, and that mice engineered with the equivalent change clear a respiratory virus better while producing more anti-DNA

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00:24:13

460: The lupus variant that also sharpens antiviral...

Base by Base ·

2026/09/21

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. This study shows the risk form moves into the nucleus more readily, binds DNA more tightly and shifts its sequence preference, raising interferon-alpha output, and that mice engineered with the equivalent change clear a respiratory virus better while producing more anti-DNA

en-us

00:24:06

459: Cerebral palsy genetics: 515 candidate genes,...

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2026/09/13

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 pathogenic variant in a child with CP actually means. This study treats CP as a phenotypic feature that some genetic disorders make more likely, tests the reported genes against the population prevalence of CP across tens of thousands of published individuals, and finds statistical evidence of

en-us

00:24:06

459: Cerebral palsy genetics: 515 candidate genes,...

Base by Base ·

2026/09/13

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 pathogenic variant in a child with CP actually means. This study treats CP as a phenotypic feature that some genetic disorders make more likely, tests the reported genes against the population prevalence of CP across tens of thousands of published individuals, and finds statistical evidence of

en-us

00:25:09

458: Somatic or inherited? Reading TP53 risk from...

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2026/09/10

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 to be somatic clones that grew with age. Using whole-exome data from 469,391 UK Biobank participants, this study combines variant allele fraction with haplotype sharing to tell the two origins apart, and finds that in cancer-free middle-aged adults the risk is mostly somatic and mostly

en-us

00:25:09

458: Somatic or inherited? Reading TP53 risk from...

Base by Base ·

2026/09/10

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 to be somatic clones that grew with age. Using whole-exome data from 469,391 UK Biobank participants, this study combines variant allele fraction with haplotype sharing to tell the two origins apart, and finds that in cancer-free middle-aged adults the risk is mostly somatic and mostly

en-us

00:24:15

457: A deletion that raises Alzheimer risk, a...

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2026/09/09

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 disease and unaffected controls, then tested gene by gene for a dosage effect. One locus came back with the cleanest signal in the field: at the central 22q11.21 region, deletions appeared only in early-onset cases, including one that arose de novo, while duplications piled up in controls,

en-us

00:24:15

457: A deletion that raises Alzheimer risk, a...

Base by Base ·

2026/09/09

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 disease and unaffected controls, then tested gene by gene for a dosage effect. One locus came back with the cleanest signal in the field: at the central 22q11.21 region, deletions appeared only in early-onset cases, including one that arose de novo, while duplications piled up in controls,

en-us

00:45:46

456: Beyond exons: where heritability hides as traits...

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2026/09/08

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 annotations and finds that exons carry only a minority of it, and steadily less as a trait becomes more polygenic. Exonic heritability falls from about 22 percent in less-polygenic somatic diseases and biomarkers to about 13 percent in highly polygenic psychiatric and cognitive traits,

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00:13:44

455: Agentic genomics: the bottleneck moves from code...

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2026/09/07

Corpas M et al., Cell Genomics - A Perspective arguing that autonomous AI agents which discover, configure and chain bioinformatics operations from natural-language instructions have shifted the bottleneck in computational biology from building pipelines to validating their output. The authors define four necessary conditions for a system to count as agentic, propose a perturbation test that separates genuine runtime decision-making from pre-specified

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00:17:13

454: Efavirenz retarda a doença priônica mexendo no...

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2026/09/02

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 humana e foram infectados com príons de doença de Creutzfeldt-Jakob esporádica humana. O efavirenz age ativando a CYP46A1, a enzima cerebral que converte colesterol numa forma capaz de sair do cérebro — e não baixando a proteína priônica, como as abordagens dos episódios anteriores desta

en-us

00:17:13

454: Efavirenz retarda a doença priônica mexendo no...

Base by Base ·

2026/09/02

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 humana e foram infectados com príons de doença de Creutzfeldt-Jakob esporádica humana. O efavirenz age ativando a CYP46A1, a enzima cerebral que converte colesterol numa forma capaz de sair do cérebro — e não baixando a proteína priônica, como as abordagens dos episódios anteriores desta

en-us

00:20:56

453: Efavirenz slows sCJD progression by reshaping...

Base by Base ·

2026/08/31

Ali T et al., JCI Insight - Repurposed low-dose efavirenz slowed disease progression and extended survival in tg650 mice inoculated with MM1 sCJD prions by activating CYP46A1, raising 24S‑hydroxycholesterol and reducing PrPSc, brain cholesterol and lipid droplets at the early clinical stage. Key terms: efavirenz, CYP46A1, Creutzfeldt-Jakob disease, cholesterol metabolism, prion disease. ⚠️ Important: nothing in this episode is a reason to take

en-us

00:20:56

453: Efavirenz slows sCJD progression by reshaping...

Base by Base ·

2026/08/31

Ali T et al., JCI Insight - Repurposed low-dose efavirenz slowed disease progression and extended survival in tg650 mice inoculated with MM1 sCJD prions by activating CYP46A1, raising 24S‑hydroxycholesterol and reducing PrPSc, brain cholesterol and lipid droplets at the early clinical stage. Key terms: efavirenz, CYP46A1, Creutzfeldt-Jakob disease, cholesterol metabolism, prion disease. ⚠️ Important: nothing in this episode is a reason to take

en-us

00:28:42

452: Reduzir a PrP funciona em todas as linhagens [PT]

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2026/08/28

Minikel EV et al., Nucleic Acids Research - Este estudo testa a redução da proteína priônica (PrP) por oligonucleotídeos antisense (ASOs) em camundongos, variando doses, esquemas de aplicação, linhagens de príon e estágios da doença. O tratamento reduziu o RNA do Prnp, prolongou a sobrevida, atrasou os sintomas e reverteu biomarcadores de lesão neuronal e de gliose em vários cenários. O benefício apareceu mesmo com redução parcial, nas cinco linhagens

en-us

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