Topic: single-nucleus RNA sequencing

Brain-restricted somatic variants can cause cortical malformations, developmental tumors and other focal epilepsies while escaping routine germline tests. This investigators workshop examines sensitive methods for detecting variants present in only a small fraction of cells. Sessions cover minimally invasive sampling, genomic assays, single-nucleus RNA sequencing and spatial analysis of brain tissue, then connect these approaches to genotype–phenotype relationships and mechanistic studies in human cells and mosaic mouse models. The aim is to improve diagnosis and identify more targeted therape

Investigate the genomic and epigenomic basis of sexual differences in somatic tissues of insect disease vectors. Combine chromatin accessibility, single-cell or single-nucleus RNA sequencing, splicing analysis and functional studies of sex-determination pathways. Research examines traits relevant to blood feeding, reproductive physiology, immunity and disease transmission. Responsibilities include experimental design, sequence analysis, publication and mentoring.

Within the vertebrate neocortex and other telencephalic structures, molecularly-defined neurons tend to segregate at first order into GABAergic types and glutamatergic types. Two fundamental questions arise: (1) do non-telencephalic neurons similarly segregate by neurotransmitter status, and (2) do GABAergic (or glutamatergic) types sampled in different structures share many molecular features in common, beyond the few genes directly responsible for neurotransmitter synthesis and release? To address these questions, we used single-nucleus RNA sequencing, analyzing over 2.4 million brain cells