Genetic conditions are the leading cause of death in children in high-income countries. Accurate and timely diagnosis is critical for being able to provide prognostic information and guide treatment, yet often takes many years.
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.
recision (or personalised) Health is being promoted as the future of healthcare. Indeed, precision health is the key theme of the latest MCRI strategic plan and the focus of much attention on campus. One of the key tools in precision health is genomics. During this Grand Round, Prof Colin Robertson will reflect on his extensive experience as a clinician-scientist in paediatric respiratory medicine. In particular, he will focus on the successes and failures of genomics in conditions such as cystic fibrosis and asthma, and he will contend that the key to using genomics to improve patient care is a strong understanding of physiology in health and disease.