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Base by Base

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...more

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Latest Episodes

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

Episode 465

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October 11, 2026

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...

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00:20:03

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

Episode 464

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October 06, 2026

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...

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00:18:20

463: Why brain traits leave faint, common genetic signals

Episode 463

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October 04, 2026

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...

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00:18:21

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

Episode 462

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September 30, 2026

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...

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00:20:10

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

Episode 461

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September 24, 2026

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...

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00:24:55

460: The lupus variant that also sharpens antiviral defense

Episode 460

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September 21, 2026

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...

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00:24:13

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