Functional genomics is the science of demonstrating the impact of DNA mutations (variants) on human health. Rare disease are collectively prevalent (occur in 1:50 births) but genome sequencing can only identify 50% of variants as pathogenic. To enable diagnosis, genetic counselling and treatment for patients that carry variants of unknown significance (the other 50%) we need functional genomics. Similarly, to assess the impact of variants (eg identified through GWAS) on complex human diseases we need functional genomics. We are using precise genome editing approaches including base editors and targeted mutation using Cas9 in isogenic cell lines to correct or introduce single or multiple patient specific mutations. These capabilities combined with robotic culture and cell phenotyping now provide the precision and scale to revolutionize human functional genomics.

We propose the establishment of the UQ Centre for Human Functional Genomics that will fill an urgent need by integrating research, clinical, and industry partnerships to improve the diagnostic and predictive power of clinical sequencing data; create unique human disease models, cell differentiation protocols, and gene editing strategies with commercial potential; and integrate biological, genomics and clinical research that will position UQ in a leading position for delivering a unique and scalable high throughput strategy for functional genomics.

ABOUT PROFESSOR WOLVETANG
Professor Wolvetang leads the stem cell engineering laboratory and the centre for stem cell ageing and regenerative engineering at the Australian Institute for Bioengineering and nanotechnology of The University of Queensland. He is interested in understanding the relationship between gene mutations and diseases that affect the brain. To this end his laboratory establishes induced pluripotent stem cell models from patients, modifies the DNA of the stem cells and then turns these into a variety of human brain cell types. Modelling brain diseases in the dish permits insight into the cellular processes that drive often poorly understood neurological diseases and permits screening of potential therapeutics for those conditions.

ABOUT DR PALPANT
Dr Palpant is a Group Leader at the Institute for Molecular Bioscience at The University of Queensland, Director of the Queensland Facility for Advanced Genome Editing and academic lead over cell biology and genome editing for the newly established UQ Genome Innovation Hub. He is recipient of the International Society for Heart Research Young Investigator Award and an Australian Heart Foundation Fellow.  His lab uses human pluripotent stem cells to understand the molecular control points of cardiac development and disease, utilizing diverse strategies including cellular genomics, computational bioinformatics, disease modelling, and drug discovery. Current work in the lab focuses on utilizing novel computational prediction algorithms to identify genetic regulators of heart development and studying proteins derived from venom as novel drugs for cardiovascular disease.

About CCR Seminars

The UQ Centre of Clinical Research Seminars (CCR) are held fortnightly on Wednesdays from 12pm - 1pm (except during school holidays) in the CCR Auditorium, Herston. The series features topics in the following fields of research, presented by invited international, interstate and local researchers.