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PODCAST

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 relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

science life sciences

All Episodes

00:20:29

️ 38: Viral Journeys — Tracing the Ancestral Bat...

Base by Base ·

2025/06/07

️ Episode 38: The Recency and Geographical Origins of Bat Viruses Ancestral to SARS-CoV and SARS-CoV-2 In this episode of Base by Base, we delve into a landmark study by Pekar et al. (2025) in Cell that harnesses recombination-aware phylogenetic and spatial analyses to trace how the closest bat coronavirus ancestors of SARS-CoV-1 and SARS-CoV-2 circulated mere years before spilling over into humans. By dissecting non-recombinant genomic segments and

en-us

00:20:28

🎙️ 38: Viral Journeys — Tracing the Ancestral Bat...

Base by Base ·

2025/06/07

🎙️ Episode 38: The Recency and Geographical Origins of Bat Viruses Ancestral to SARS-CoV and SARS-CoV-2🧬 In this episode of Base by Base, we delve into a landmark study by Pekar et al. (2025) in Cell that harnesses recombination-aware phylogenetic and spatial analyses to trace how the closest bat coronavirus ancestors of SARS-CoV-1 and SARS-CoV-2 circulated mere years before spilling over into humans. By dissecting non-recombinant genomic segments and applying tailored molecular clock models, the

en-us

00:23:06

🎙️ 37: Proteomic Clues — Prioritizing Functional...

Base by Base ·

2025/06/06

🎙️ Episode 37: Proteomic Clues — Prioritizing Functional Missense Variants with Chemoproteomics🧬 In this episode of Base by Base, we highlight a new study by Palafox et al. (2025) in The American Journal of Human Genetics that bridges mass spectrometry-based chemoproteomics with variant interpretation. Missense variants—abundant and often challenging to classify—are prioritized here using measurements of amino acid reactivity, offering a protein-centric lens for clinical genomics. The authors

en-us

00:23:07

️ 37: Proteomic Clues — Prioritizing Functional...

Base by Base ·

2025/06/06

️ Episode 37: Proteomic Clues — Prioritizing Functional Missense Variants with Chemoproteomics In this episode of Base by Base, we highlight a new study by Palafox et al. (2025) in The American Journal of Human Genetics that bridges mass spectrometry-based chemoproteomics with variant interpretation. Missense variants—abundant and often challenging to classify—are prioritized here using measurements of amino acid reactivity, offering a protein-centric

en-us

00:18:31

️ 36: Bi-allelic POPDC2 Variants: A Novel Autosomal...

Base by Base ·

2025/06/06

️ Episode 36: Bi-allelic POPDC2 Variants: A Novel Autosomal Recessive Cardiac Syndrome In this episode of Base by Base, we discuss a groundbreaking study by Nicastro et al. (2025) published in The American Journal of Human Genetics, which identifies bi-allelic loss-of-function variants in the POPDC2 gene as the cause of a previously unrecognized autosomal recessive syndrome characterized by cardiac conduction defects and hypertrophic cardiomyopathy. The

en-us

00:18:30

🎙️ 36: Bi-allelic POPDC2 Variants: A Novel Autosomal...

Base by Base ·

2025/06/06

🎙️ Episode 36: Bi-allelic POPDC2 Variants: A Novel Autosomal Recessive Cardiac Syndrome🧬 In this episode of Base by Base, we discuss a groundbreaking study by Nicastro et al. (2025) published in The American Journal of Human Genetics, which identifies bi-allelic loss-of-function variants in the POPDC2 gene as the cause of a previously unrecognized autosomal recessive syndrome characterized by cardiac conduction defects and hypertrophic cardiomyopathy. The authors sequenced affected individuals and

en-us

00:18:20

️ 35: Tracing the Evolutionary History of CCR5Δ32 —...

Base by Base ·

2025/06/06

️ Episode 35: Tracing the Evolutionary History of CCR5Δ32 — Insights from Ancient and Modern Genomes In this episode of Base by Base, we explore groundbreaking research by Ravn et al. (2025) published in Cell that reconstructs the origin, spread, and selective pressures acting on the CCR5Δ32 deletion in human populations. Through a comprehensive analysis of 934 ancient genomes and 2,504 present-day genomes, the authors trace how this 32-base-pair deletion

en-us

00:18:19

🎙️ 35: Tracing the Evolutionary History of CCR5Δ32 —...

Base by Base ·

2025/06/06

🎙️ Episode 35: Tracing the Evolutionary History of CCR5Δ32 — Insights from Ancient and Modern Genomes🧬 In this episode of Base by Base, we explore groundbreaking research by Ravn et al. (2025) published in Cell that reconstructs the origin, spread, and selective pressures acting on the CCR5Δ32 deletion in human populations. Through a comprehensive analysis of 934 ancient genomes and 2,504 present-day genomes, the authors trace how this 32-base-pair deletion in the CCR5 gene—known to confer

en-us

00:22:50

🎙️ 34: Enzyme Replacement Therapy in Homocystinuria —...

Base by Base ·

2025/06/06

🎙️ Episode 34: Enzyme Replacement Therapy in Homocystinuria — Safety and Efficacy of Pegtibatinase in the Phase 1/2 COMPOSE Trial🧬 In this episode of Base by Base, we delve into early findings from Ficicioglu et al. (2025) published in Genetics in Medicine, which evaluate pegtibatinase, a PEGylated truncated human cystathionine β-synthase enzyme replacement, in adults with classical homocystinuria (HCU). The COMPOSE Phase 1/2 trial randomized individuals with elevated total plasma homocysteine

en-us

00:22:51

️ 34: Enzyme Replacement Therapy in Homocystinuria —...

Base by Base ·

2025/06/06

️ Episode 34: Enzyme Replacement Therapy in Homocystinuria — Safety and Efficacy of Pegtibatinase in the Phase 1/2 COMPOSE Trial In this episode of Base by Base, we delve into early findings from Ficicioglu et al. (2025) published in Genetics in Medicine, which evaluate pegtibatinase, a PEGylated truncated human cystathionine β-synthase enzyme replacement, in adults with classical homocystinuria (HCU). The COMPOSE Phase 1/2 trial randomized individuals

en-us

00:20:35

🎙️ 33: Mis-splicing-derived Neoantigens — A New...

Base by Base ·

2025/06/05

🎙️ Episode 33: Mis-splicing-derived Neoantigens — A New Avenue for Immunotherapy in Leukemia🧬 In this episode of Base por Base, we examine groundbreaking research by Kim et al. (2025), recently published in Cell, that uncovers a promising immunotherapeutic strategy targeting leukemia-associated splicing factor mutations. The study identifies recurrent neoantigens arising from mis-splicing events in SRSF2 and ZRSR2 mutant myeloid leukemias, which can be exploited for T cell receptor (TCR)-based

en-us

00:20:36

️ 33: Mis-splicing-derived Neoantigens — A New Avenue...

Base by Base ·

2025/06/05

️ Episode 33: Mis-splicing-derived Neoantigens — A New Avenue for Immunotherapy in Leukemia In this episode of Base por Base, we examine groundbreaking research by Kim et al. (2025), recently published in Cell, that uncovers a promising immunotherapeutic strategy targeting leukemia-associated splicing factor mutations. The study identifies recurrent neoantigens arising from mis-splicing events in SRSF2 and ZRSR2 mutant myeloid leukemias, which can be

en-us

00:21:32

🎙️ 32: Idursulfase Beta — A New Therapeutic Option...

Base by Base ·

2025/06/05

🎙️ Episode 32: Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence🧬 In this episode of Base por Base, we delve into a pivotal phase 3 clinical study published by Sohn et al. (2025) in Genetics in Medicine, evaluating the efficacy and safety of idursulfase beta in patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome. This two-part study compared idursulfase beta to a historical placebo group drawn from a prior trial with idursulfase

en-us

00:21:33

️ 32: Idursulfase Beta — A New Therapeutic Option for...

Base by Base ·

2025/06/05

️ Episode 32: Idursulfase Beta — A New Therapeutic Option for MPS II with Strong Clinical Evidence In this episode of Base por Base, we delve into a pivotal phase 3 clinical study published by Sohn et al. (2025) in Genetics in Medicine, evaluating the efficacy and safety of idursulfase beta in patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome. This two-part study compared idursulfase beta to a historical placebo group

en-us

00:33:14

️ 31: Decoding Hidden Signals — Genome Sequencing...

Base by Base ·

2025/06/05

️ Episode 31: Decoding Hidden Signals — Genome Sequencing Reveals Cryptic Splicing Variants in Marfan Syndrome In this episode of Base por Base, we delve into a breakthrough study by Walker et al. (2025), published in Genetics in Medicine, which leverages whole-genome sequencing and RNA-based validation to uncover non-canonical splicing variants in the FBN1 gene, often overlooked in conventional genetic testing for Marfan Syndrome (MFS). The authors

en-us

00:33:13

🎙️ 31: Decoding Hidden Signals — Genome Sequencing...

Base by Base ·

2025/06/05

🎙️ Episode 31: Decoding Hidden Signals — Genome Sequencing Reveals Cryptic Splicing Variants in Marfan Syndrome🧬 In this episode of Base por Base, we delve into a breakthrough study by Walker et al. (2025), published in Genetics in Medicine, which leverages whole-genome sequencing and RNA-based validation to uncover non-canonical splicing variants in the FBN1 gene, often overlooked in conventional genetic testing for Marfan Syndrome (MFS). The authors analyzed data from over 78,000 individuals in

en-us

00:26:18

Episode 30: Heart in the Genes — A New Genetic...

Base by Base ·

2025/05/26

Episode 30: Heart in the Genes — A New Genetic Syndrome Linked to POPDC2🫀 In this episode of Base by Base, we delve into a groundbreaking study by Nicastro et al. (2025), published in The American Journal of Human Genetics, which identifies bi-allelic variants in the POPDC2 gene as the cause of a novel autosomal recessive cardiac syndrome. This condition manifests with sinus node dysfunction, atrioventricular (AV) block, and in some cases, hypertrophic cardiomyopathy (HCM).🔍 Study highlights:The

en-us

00:26:19

️30: Heart in the Genes — A New Genetic Syndrome...

Base by Base ·

2025/05/26

Episode 30: Heart in the Genes — A New Genetic Syndrome Linked to POPDC2 In this episode of Base by Base, we delve into a groundbreaking study by Nicastro et al. (2025), published in The American Journal of Human Genetics, which identifies bi-allelic variants in the POPDC2 gene as the cause of a novel autosomal recessive cardiac syndrome. This condition manifests with sinus node dysfunction, atrioventricular (AV) block, and in some cases, hypertrophic

en-us

00:16:18

️ 29: Rethinking Agency for Genetic Testing Intention...

Base by Base ·

2025/05/23

️ Episode 29: Rethinking Agency for Genetic Testing Intention among Latinos — Determining Predictors of Intention for Carrier Screening and Cancer Predisposition Testing In this episode of Base por Base, we explore a pre-proof by Chavez-Yenter and Kaphingst (2025) in Genetics in Medicine that leverages the Integrated Behavioral Model to uncover how attitudes, social norms, and perceived agency drive Latino adults’ intentions to pursue both carrier

en-us

00:16:17

🎙️ Episode 29: Rethinking Agency for Genetic Testing...

Base by Base ·

2025/05/23

🎙️ Episode 29: Rethinking Agency for Genetic Testing Intention among Latinos — Determining Predictors of Intention for Carrier Screening and Cancer Predisposition Testing🧬 In this episode of Base por Base, we explore a pre-proof by Chavez-Yenter and Kaphingst (2025) in Genetics in Medicine that leverages the Integrated Behavioral Model to uncover how attitudes, social norms, and perceived agency drive Latino adults’ intentions to pursue both carrier screening and cancer predisposition testing .🔍

en-us

456 results

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