35: Tracing CCR5Δ32 through ancient genomes
This episode summarizes a study that genotyped the CCR5Δ32 deletion in ancient and modern human genomes, compared genotyping methods for low‑coverage ancient DNA, reconstructed CCR5 haplotypes, and mo...
6 Juni 202518min
34: Pegtibatinase in Classical Homocystinuria (COMPOSE)
Ficicioglu C et al., Genetics in Medicine (2025) 27, 101456 - Phase 1/2 COMPOSE trial tested subcutaneous pegtibatinase in 24 participants with classical homocystinuria; treatment was generally well t...
6 Juni 202522min
33: Targeting mis-splicing-derived neoantigens in splicing factor mutant leukemias
Kim WJ et al., Cell - This episode examines a study that identifies recurrent neoantigens produced by SRSF2 and ZRSR2 splicing factor mutations in myeloid leukemias, isolates cognate TCRs, and demonst...
5 Juni 202520min
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 of mucopolysaccharidosis II: a phase 3, two...
5 Juni 202524min
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 enriched among individuals recr...
5 Juni 202533min
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 defects and...
26 Maj 202526min
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 predictors of intention for carrier s...
23 Maj 202516min
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 to perform cell-type-specifi...
22 Maj 202525min
