[The Svedberg seminar] – Intersecting population genetics, stem cell biology, and cellular genomics to study complex human disease
December 4 @ 15:15 – 16:15 CET
Joseph Powell
Professor
Garvan Institute of Medical Research, Sydney Australia
Bio
Professor Powell is the Director of Translational Genomics at the Garvan Institute and Director of the UNSW Cellular Genomics Futures Institute. He received his PhD from the University of Edinburgh. Subsequently, he undertook postdoctoral training with Professor Peter Visscher’s FAA FRS and started his lab in 2016. In 2018, he was recruited as the inaugural Director of the Garvan-Weizmann Centre for Cellular Genomics and developed a multidisciplinary program in translational genomics research.
Abstract: Genetic variants can contribute to disease in many ways. In complex diseases, hundreds to thousands of variants independently contribute to disease risk, and an accumulation of risk alleles – often combined with specific environmental exposures –is required to develop the disease phenotype. The overwhelming evidence showing enrichment of disease-associated variants in regulatory regions suggests that regulation of gene expression is likely a dominant mediator for disease risk. Expression quantitative trait loci (eQTL) analysis links disease risk-SNPs to downstream expression effects. An essential next step is defining the cellular contexts in which disease risk-SNPs affect gene expression levels. This will help better understand the molecular and cellular mechanisms by which disease risk is conferred and inform therapeutic strategies. This talk will cover a body of work on how single-cell sequencing technology can be scaled to enable the type of population genetics studies required to address these biological questions. I will present recent research on how we have resolved how genetic variation acts at the level of individual cells in immune cell and stem cell systems and outline the next steps in translating these findings into clinical impact.
Host: Weronica Ek, UU
Google Calendar 
