Latest Episodes
Episode 34
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June 06, 2025
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;...
00:22:51
Episode 33
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June 05, 2025
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...
00:20:36
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