126: Smith-Magenis Syndrome: Chromatin Rewiring to Hyperexcitable Neurons
Lee Y et al., The American Journal of Human Genetics - This episode reviews a study using hiPSC-derived 2D cortical neurons and 3D cortical organoids from individuals with del(17)p11.2 (Smith-Magenis ...
3 Syys 202520min
125: GP2: A Global Roadmap for Parkinson’s Genetics
Blauwendraat C et al., The American Journal of Human Genetics - This episode reviews a perspective on the Global Parkinson’s Genetics Program (GP2), a coordinated international effort to expand Parkin...
2 Syys 202522min
124: Omnigenic Architecture and Core Genes in Ulcerative Colitis
Ratajczak F et al., The American Journal of Human Genetics - This study uses the Speos graph machine-learning framework on multi-modal molecular networks to identify core genes for complex traits, foc...
1 Syys 202523min
123: Dominant-negative ATP5F1A variants and uncoupled oxidative phosphorylation
Fielder SM et al et al., EMBO Molecular Medicine - This episode examines a study that identifies de novo heterozygous missense variants in ATP5F1A that cause developmental and movement disorders by de...
31 Elo 202518min
122: Patient stratification reveals the molecular basis of disease co-occurrences
Urda-García B et al., PNAS - This episode discusses a PNAS study that builds disease similarity networks from public RNA-seq data and shows that stratifying patients into 'meta-patients' uncovers mole...
30 Elo 202519min
121: G-quadruplexes, BRCA2, and a Helicase Weak Spot
Keahia DL et al., Proceedings of the National Academy of Sciences (PNAS) - This study shows that G-quadruplex (G4) DNA structures are hotspots of replication stress and mutagenesis in BRCA2-deficient ...
29 Elo 202519min
120: When the Clock Breaks: BMAL1 Variants and a Neurodevelopmental Syndrome
Cuddapah VA et al., Proceedings of the National Academy of Sciences (PNAS) - An international series of 10 individuals with ultrarare heterozygous BMAL1 variants present a syndromic neurodevelopmental...
28 Elo 202522min
119: G-quadruplexes, pericentromeres, and B cell genome instability
Waisertreiger I et al., PNAS - This study tests how stabilization of G-quadruplex (G4) DNA by ligands such as pyridostatin (PDS) affects genome stability in primary and malignant B cells. The authors ...
27 Elo 202518min
