WEHI Special Seminar hosted by Associate Professor Ian Majewski
 

Professor Joseph Powell

Director of Translational Genomics at Garvan Institute

Director of UNSW Cellular Genomics Futures Institute

 

Intersecting population genetics, stem cell biology, and cellular genomics to study complex human disease

Davis Auditorium

Join via TEAMS

Including Q&A session

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 the enrichment of disease-associated variants in regulatory regions suggests that genome regulation is likely a dominant mediator for disease risk. An essential next step is defining the cellular contexts in which disease-risk SNPs affect gene expression levels. Our work has demonstrated that most genetic risk variants act in a cell type or state-specific manner.

This talk will cover a body of work on how cellular 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 our work translating these into new precision medicine clinical studies and early-stage steps towards developing new therapeutics.

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. His lab has led the intersection of cellular genomics and human genetics, building the world’s largest cohorts of single-cell and genomic data in multiple-cell systems. This work is already being translated into new precision medicine validation trials and early-stage therapy development.

All welcome!