Single cell biology: new heads for old hats
After having been the responsible for bioinformatics in the Medical Genetic service of the University Hospital of Geneva, Federico Santoni is currently a principal investigator in the service of Endocrinology, Metabolism and Diabetes and lab head of the diagnostic laboratory for Endocrine Genetic Diseases of the CHUV. His main research interests are focused on the causes and the effects of single cell gene expression dysregulation in physiological and pathological contexts and the development of computational tools for the discovery of new candidate genes of rare diseases and novel drivers of endocrine tumors.
Thursday 16 January 2020 (12h15 - 13h00) - Génopode - Auditoire A
Advances in High Throughput Sequencing (HTS) technologies have revolutionized the field of functional genomics. DNA and RNAseq are powerful technologies to determine transcriptional and genomic properties of organs, tissues or a cell line; however, the complexity of organ and tissue biology depends on temporal and spatial variations of gene expression among its constituent cells. We investigated some very well-known yet not fully understood aspects of gene expression (de-) regulation such as genomic imprinting, X-chromosome inactivation (XCI) and copy number alterations down to single cell resolution. Under the lens of single cell transcriptomics, we discovered novel putative imprinted and XCI escaping genes as well as previously unobserved cellular behaviours such as cellular heterogeneity of X-inactivation and the spatial dimension of gene dosage imbalance. These findings are only a drop in the sea of the enormous potential offered by single cell technologies. This will be further amplified by the availability of a growing “single cell omics toolbox” which already integrates transcriptome with DNA methylation and DNA accessibility. We are at the very beginning of the “single cell biology” revolution.