Latest Episodes
Episode 32
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June 05, 2025
32: Idursulfase beta improves mobility and reduces organomegaly in MPS II
Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence Article title:Efficacy and safety of idursulfase beta in the treatment...
00:24:46
Episode 31
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June 05, 2025
31: Non-canonical FBN1 splicing in the 100k Genomes Project
Walker S et al., Genetics in Medicine - Genome sequencing of 78,195 participants in the 100,000 Genomes Project identified ultra-rare non-canonical FBN1 splice variants...
00:33:14
Episode 30
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May 26, 2025
30: Bi‑allelic POPDC2 variants and a recessive cardiac conduction syndrome
Nicastro M et al., The American Journal of Human Genetics - Researchers identify bi-allelic POPDC2 variants in multiple families causing sinus-node dysfunction, atrioventricular conduction...
00:26:19
Episode 29
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May 23, 2025
29: Rethinking Agency: Predictors of Genetic Testing Intention among Latinos
Chavez-Yenter D et al., Genetics in Medicine - A cross-sectional SEM study of 503 English-fluent Latino adults applied the Integrated Behavioral Model to identify...
00:16:18
Episode 28
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May 22, 2025
28: scPrediXcan: Deep learning meets single-cell TWAS
Zhou Y et al., Cell Genomics - This paper introduces scPrediXcan, which combines a deep-learning model (ctPred) built on Enformer-derived features with single-cell RNA-seq...
00:25:04
Episode 27
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May 21, 2025
27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs
Geilenkeuser J et al., Cell - A Cell paper describing ENVLPE/ENVLPE+, virus-like particles engineered with nucleocytosolic-shuttling Gag-PCP to recruit aptamer-tagged (pe)gRNAs and preferentially package...
00:16:20