Latest Episodes
Episode 302
•
February 26, 2026
302: SMN1/SMN2 splicing and last-exon mechanisms — Tribute to Brunhilde Wirth
The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof. Dr. Brunhilde Wirth - Special tribute episode honoring Prof. Dr. Brunhilde...
00:24:12
Episode 301
•
February 25, 2026
301: Biobank Mendelian randomization prioritizes 6,447 genes and nominates ANXA2 for dyslipidemia
Ferolito BR et al., Human Genetics and Genomics Advances, 7 (2026) 100556. doi:10.1016/j.xhgg.2025.100556 - Meta-analysis of MVP, UK Biobank and FinnGen with Mendelian randomization...
00:20:53
Episode 300
•
February 24, 2026
300: Population-scale WGS links MHC class II antigen presentation to persistent Epstein–Barr virus (EBV) DNA
Nyeo SS et al., Nature, doi:10.1038/s41586-025-10020-2 - Population-scale WGS reanalysis quantifies persistent EBV DNA and shows MHC class II–mediated antigen presentation predicts EBV DNAemia...
00:21:48
Episode 299
•
February 24, 2026
299: UFM1 loss and R81C mutation disrupt neuronal translation, ER stress, and synaptogenesis
Perdigão C et al., EMBO Molecular Medicine, doi:10.1038/s44321-026-00389-6 - In mouse neurons, UFM1 loss or UFM1-R81C expression reduces protein translation, triggers ER stress and...
00:21:15
Episode 298
•
February 24, 2026
298: Bi-allelic FSD1L variants in retinitis pigmentosa implicate photoreceptor axoneme
Lin S et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.015 - Bi-allelic FSD1L variants cause retinitis pigmentosa; FSD1L localizes to the...
00:20:16
Episode 297
•
February 24, 2026
297: Bi-allelic FSD1L variants disrupt mitotic spindle and ciliogenesis in an L1-like neurodevelopmental disorder
Serpieri V et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.014 - Bi-allelic FSD1L variants disrupt a microtubule-associated protein, causing hydrocephalus, corpus...
00:21:27