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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

00:20:35

🎙️ 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

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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

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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

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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

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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

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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

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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

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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

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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 .🔍

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00:25:04

️ 28: Cell-Type-Resolved TWAS — scPrediXcan...

Base by Base ·

2025/05/22

️ Episode 28: Cell-Type-Resolved TWAS — scPrediXcan Integrates Deep Learning and Single-Cell Data for Transcriptome-Wide Association Studies In this episode of Base por Base, we explore the groundbreaking framework scPrediXcan introduced by Zhou et al. (2025) in Cell Genomics. This approach combines a deep learning–based model, ctPred, with single-cell RNA-seq data to predict cell-type-specific gene expression, and then linearizes those predictions into a

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00:25:03

🎙️ Episode 28: Cell-Type-Resolved TWAS — scPrediXcan...

Base by Base ·

2025/05/22

🎙️ Episode 28: Cell-Type-Resolved TWAS — scPrediXcan Integrates Deep Learning and Single-Cell Data for Transcriptome-Wide Association Studies🧬 In this episode of Base por Base, we explore the groundbreaking framework scPrediXcan introduced by Zhou et al. (2025) in Cell Genomics. This approach combines a deep learning–based model, ctPred, with single-cell RNA-seq data to predict cell-type-specific gene expression, and then linearizes those predictions into a SNP-based model, ℓ-ctPred, for use in

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00:16:20

️ 27: Nucleocytosolic Vehicles — A CRISPR RNP...

Base by Base ·

2025/05/21

️ Episode 27: Nucleocytosolic Vehicles — A CRISPR RNP Delivery Breakthrough In this episode of Base by Base, we delve into a novel virus-like particle (VLP) platform, ENVLPE, developed by Geilenkeuser et al. (2025) in Cell. This innovation harnesses nucleocytosolic shuttling and RNA aptamer recruitment to efficiently package and deliver fully assembled CRISPR ribonucleoproteins (RNPs), overcoming spatial and loading limitations of previous VLP approaches

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00:16:19

🎙️ Episode 27: Nucleocytosolic Vehicles — A CRISPR...

Base by Base ·

2025/05/21

🎙️ Episode 27: Nucleocytosolic Vehicles — A CRISPR RNP Delivery Breakthrough🧬 In this episode of Base by Base, we delve into a novel virus-like particle (VLP) platform, ENVLPE, developed by Geilenkeuser et al. (2025) in Cell. This innovation harnesses nucleocytosolic shuttling and RNA aptamer recruitment to efficiently package and deliver fully assembled CRISPR ribonucleoproteins (RNPs), overcoming spatial and loading limitations of previous VLP approaches.🔍 Main Highlights:The ENVLPE system

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00:15:48

🎙️ Episode 26: Reannotation in Focus — Uncovering...

Base by Base ·

2025/05/20

🎙️ Episode 26: Reannotation in Focus — Uncovering Functional Non-Coding Mutations in Melanoma🧬 In this episode of Base por Base, we delve into a breakthrough study by Pepe et al. (2025) in The American Journal of Human Genetics that challenges conventional cancer mutation annotation. The authors present an automated pipeline combining RNA-seq–based transcript quantification and Ensembl VEP reannotation to map somatic variants to the transcripts actually expressed in melanoma tumors. By integrating

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00:15:49

️ 26: Reannotation in Focus — Uncovering Functional...

Base by Base ·

2025/05/20

️ Episode 26: Reannotation in Focus — Uncovering Functional Non-Coding Mutations in Melanoma In this episode of Base por Base, we delve into a breakthrough study by Pepe et al. (2025) in The American Journal of Human Genetics that challenges conventional cancer mutation annotation. The authors present an automated pipeline combining RNA-seq–based transcript quantification and Ensembl VEP reannotation to map somatic variants to the transcripts actually

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00:16:20

🎙️ Episode 25: Uncovering Mitochondrial DNA Diseases...

Base by Base ·

2025/05/19

🎙️ Episode 25: Uncovering Mitochondrial DNA Diseases — The Solve-RD Experience with Genotype and Phenotype Integration🧬 In this episode of Base por Base, we delve into a groundbreaking study by Ratnaike et al. (2025) published in The American Journal of Human Genetics, which presents a semi-automated workflow combining mtDNA variant filtering and MitoPhen-based HPO phenotype similarity scoring applied to exome and genome data from the Solve-RD cohort of undiagnosed rare disease cases .🔍 Study

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00:16:21

️ 25: Uncovering Mitochondrial DNA Diseases — The...

Base by Base ·

2025/05/19

️ Episode 25: Uncovering Mitochondrial DNA Diseases — The Solve-RD Experience with Genotype and Phenotype Integration In this episode of Base por Base, we delve into a groundbreaking study by Ratnaike et al. (2025) published in The American Journal of Human Genetics, which presents a semi-automated workflow combining mtDNA variant filtering and MitoPhen-based HPO phenotype similarity scoring applied to exome and genome data from the Solve-RD cohort of

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00:14:52

🎙️ Episode 24: The Role of the X Chromosome in...

Base by Base ·

2025/05/18

🎙️ Episode 24: The Role of the X Chromosome in Complex Trait Genetics — Unraveling Dosage-Compensation Mechanisms🧬 In this installment of Base por Base, we delve into groundbreaking work by Fu et al. (2025) in The American Journal of Human Genetics, which systematically interrogates how the X chromosome shapes human quantitative traits. Leveraging data from over 350,000 UK Biobank participants with replication in more than 400,000 FinnGen individuals, the study quantifies the X chromosome’s

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00:14:53

️ 24: The Role of the X Chromosome in Complex Trait...

Base by Base ·

2025/05/18

️ Episode 24: The Role of the X Chromosome in Complex Trait Genetics — Unraveling Dosage-Compensation Mechanisms In this installment of Base por Base, we delve into groundbreaking work by Fu et al. (2025) in The American Journal of Human Genetics, which systematically interrogates how the X chromosome shapes human quantitative traits. Leveraging data from over 350,000 UK Biobank participants with replication in more than 400,000 FinnGen individuals, the

en-us

00:14:11

🎙️ Episode 23: Evaluating the Return of Additional...

Base by Base ·

2025/05/17

🎙️ Episode 23: Evaluating the Return of Additional Findings from the 100,000 Genomes Project — Participant Experiences of Secondary Genomic Findings🧬 In this episode of Base por Base, we explore a mixed-methods study by Stafford-Smith et al. (2025) published in Genetics in Medicine, which examines how participants in England’s 100,000 Genomes Project experienced the disclosure of additional (secondary) genomic findings. By combining a cross-sectional survey of 147 adults who received either

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465 results

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