Synopsis

The Kidney Flagship is an RCH Foundation funded project which aims to reduce the burden of genetic kidney disease on patients and their families by improving diagnosis, treatment and developing new targeted therapies.  In this Grand Rounds we will show how our work has already impacted on the care of children with kidney disease and our plans for the future.

We will describe the clinical utility and health economic evidence for genomic sequencing for patients with kidney disease; how taking a multidisciplinary approach leads to an increased diagnostic yield; how disease modelling in organoids and mice can contribute to a clinical diagnosis; the integration of RNA sequencing into the diagnostic pipeline; how compound screening can be used to identify novel therapeutic agents and how a clinical diagnosis can impact on the entire family.

Speakers

A/Professor Cathy Quinlan is a paediatric nephrologist who leads the kidney flagship at MCRI and the renal genetics service at RCH.

A/Professor Sue White is a clinical geneticist, Deputy Clinical Director of VCGS and is a clinical geneticist with a clinical and research interest in rare disease and genetic kidney disease.

Ms Ella Wilkins is a genetic counsellor with a special interest in genetic kidney disease. She has coordinated the RCH Renal Genetics Clinic since 2016.

Dr Tom Forbes is a paediatric nephrologist at RCH and clinician scientist at MCRI. His research focuses on using kidney organoids to understand the mechanisms of genetic kidney disease.

Professor Melissa Little is Theme Director of Cell Biology at MCRI and leads the Kidney Regeneration group. Melissa’s team have developed approaches for directing the differentiation of human pluripotent stem cells to human kidney organoids.

Dr Cas Simons leads the Translational Bioinformatics group at MCRI. His research is focused on understanding the molecular basis of rare and undiagnosed genetic disorders with a specific focus on rare disease and genetic kidney disease.