News

MCRI and KidGen: Meet the Scientists

25 October 2017
Dr Cathy Quinlan, Dr Sara Howden, Dr Lorna Hale & Prof. Melissa Little

Meet the Scientists, the first KidGen patient engagement event, was held on the 21st September. The live event was a huge success as almost 60 people turned out to hear our scientists discuss their work and quiz them about future priorities. The video is now available to view online on KidGen.org.au.

Dr Cathy Quinlan opened the meeting with an overview of Renal Genetics in Victoria. The first Victorian multidisciplinary renal genetics service opened in 2016 with the support of the Royal Children’s Hospital Foundation. She described their team approach to diagnosis and explained how, along with Dr Zornitza Stark, Dr Sue White and Ms Ella Wilkins, they have a 55% clinical diagnostic rate which increases to 75 % when research testing is included. With the support of the Melbourne Genomics Health Alliance and the Australian Genomics Health Alliance, this clinical model has now been rolled out across Victoria to the Austin Hospital, Monash Medical Centre and The Royal Melbourne Hospital. Patients recruited via these clinics have access to genetic testing as well as enrollment in gene discovery research. 

Professor Melissa Little gave an enthralling overview of the use of induced pluripotent stem cells in renal disease and how she hopes these could be used for drug screening and to further our understanding of kidney development.

She was followed by Dr Lorna Hale whose work has focussed on nephrotic syndrome and the podocyte. For many patients it was the first time they had seen ultra-structural images of the glomerulus as Dr Hale explained how problems can occur leading to protein loss in the urine. She expanded on Prof Little’s talk to demonstrate how she is using mini-kidneys to model kidney disease in the lab and explained how vital patients' participation is to her work. Dr Hale recently received a prize for her work on kidneys at the 2017 Stem Cells Australia Retreat.

The evening culminated in an enlightening presentation by Dr Sara Howden, joint director of the MCRI Gene Editing core facility. She took the audience through the science of gene editing and how she developed a protocol to derive gene-edited pluripotent stem cells from human blood cells. These genetically modified cells are then used to model kidney disease in the laboratory.

Despite the difficult and technical nature of their work all the scientists made their subject comprehensible to a lay audience and were available to answer questions for two hours after the event.

The KidGen annual Renal Genetics Symposium will be held on the 7th /8th of December 2017. For more information and to keep up to date with their work, visit KidGen.org.au.

Professor Melissa Little is the Program Leader at Stem Cells Australia.