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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

️ 36: Bi-allelic POPDC2 Variants: A Novel Autosomal Recessive Cardiac Syndrome

Episode 36

June 06, 2025

️ 36: Bi-allelic POPDC2 Variants: A Novel Autosomal Recessive Cardiac Syndrome

️ Episode 36: Bi-allelic POPDC2 Variants: A Novel Autosomal Recessive Cardiac Syndrome In this episode of Base by Base, we discuss a groundbreaking study...

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00:18:31

️ 35: Tracing the Evolutionary History of CCR5Δ32 — Insights from Ancient and Modern Genomes

Episode 35

June 06, 2025

️ 35: Tracing the Evolutionary History of CCR5Δ32 — Insights from Ancient and Modern Genomes

️ Episode 35: Tracing the Evolutionary History of CCR5Δ32 — Insights from Ancient and Modern Genomes In this episode of Base by Base, we...

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00:18:20

️ 34: Enzyme Replacement Therapy in Homocystinuria — Safety and Efficacy of Pegtibatinase in the Phase 1/2 COMPOSE Trial

Episode 34

June 06, 2025

️ 34: Enzyme Replacement Therapy in Homocystinuria — Safety and Efficacy of Pegtibatinase in the Phase 1/2 COMPOSE Trial

️ Episode 34: Enzyme Replacement Therapy in Homocystinuria — Safety and Efficacy of Pegtibatinase in the Phase 1/2 COMPOSE Trial In this episode of...

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00:22:51

️ 33: Mis-splicing-derived Neoantigens — A New Avenue for Immunotherapy in Leukemia

Episode 33

June 05, 2025

️ 33: Mis-splicing-derived Neoantigens — A New Avenue for Immunotherapy in Leukemia

️ Episode 33: Mis-splicing-derived Neoantigens — A New Avenue for Immunotherapy in Leukemia In this episode of Base por Base, we examine groundbreaking research...

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00:20:36

️ 32: Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence

Episode 32

June 05, 2025

️ 32: Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence

️ Episode 32: Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence In this episode of Base por Base,...

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00:21:33

️ 31: Decoding Hidden Signals — Genome Sequencing Reveals Cryptic Splicing Variants in Marfan Syndrome

Episode 31

June 05, 2025

️ 31: Decoding Hidden Signals — Genome Sequencing Reveals Cryptic Splicing Variants in Marfan Syndrome

️ Episode 31: Decoding Hidden Signals — Genome Sequencing Reveals Cryptic Splicing Variants in Marfan Syndrome In this episode of Base por Base, we...

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00:33:14