HeyJaredBase 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.
- Indexed episodes, last 90 days
- 55
- Latest publication
- Sep 24, 2026
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- Earliest in this view
- Jul 5, 2026
Latest episodes
461: Adult Ank3 loss quiets neurons and lowers a myelin protein (opens the original)
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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 intact. The neurons become less active,
460: The lupus variant that also sharpens antiviral defense (opens the original)
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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 autoantibodies. The same change buys antiviral protecti
459: Cerebral palsy genetics: 515 candidate genes, evidence for 89 (opens the original)
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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 association for only 89 of 515, before ap
458: Somatic or inherited? Reading TP53 risk from shared DNA (opens the original)
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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 hematological. Key terms: TP53, clonal hem
457: A deletion that raises Alzheimer risk, a duplication that lowers it (opens the original)
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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, with late-onset cases sitting in between. R
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