Chaired by Dr Hugh McCarthy

• Acknowledgement of Country

What do you want to learn today?

Answer at slido.com #kidney1

Diagnostic Difficulty

Peter and Jen Murko share the story of their family journey with genetic kidney disease.

Dr Noa Amir - a KidGen PhD student discusses the KidGen patient and family engagement workstream.

KidGen National Director:

Prof Andrew Mallett

The Director of KidGen will provide an update of current and future research, education and clinical activities of the KidGen Collaborative Group.

Sponsored by Natera

Prof Rachel Lennon (UK)

Linking basement membrane biology to kidney human kidney disease

Chaired by Dr Noa Amir

Basement membranes are essential for tissue formation and function. Assembled as thin and dense scaffolds, basement membranes enwrap and support all organs and tissues. Although core components such as laminins and collagens are known, the full make up of basement membranes has been challenging to elucidate because of its biochemical insolubility and extracellular localization. Understanding basement membranes is important, as genetic defects in core basement membrane components cause a spectrum of rare human diseases such as Alport syndrome and large-scale genetic studies have shown that variants in these core genes are associated with more prevalent human diseases including diabetic kidney disease, haemorrhagic stroke and cardiovascular disease, which affect up to 1 in 3 of the population. By developing a robust new pipeline that combines immunolocalization, bioinformatics and genomic knock-in strategies, we recently curated 222 human genes that localise to basement membranes. Our studies also discovered new regulatory components, and identified loss of function variants in basement membrane elements that are associated with a wide spectrum of rare human disease within the 100,000 genomes project. I will describe this study during the talk and introduce the tools we have created to investigate basement membrane function.

Kelli Owen - National Community Engagement Coordinator

‘Namawi Ngopun’ – Our walk.

Kelli is a Kaurna, Narungga & Ngarrindjeri woman who shares her family’s journey with genetic kidney disease. This talk will introduce the theme of Indigenous Genomics.

Chaired by Dr Noa Amir

Greg Pratt - Manager of Aboriginal & Torres Strait Islander Health Research, QIMR Berghofer Medical Research Institute

GenEtiquette - A privileged Journey to Equitable HealthCare

Greg is the Manager of Aboriginal & Torres Strait Islander research at QIMR Berghofer Medical Research Institute and will present his group’s work on indigenous health research programs in genomics.

Chaired by Dr Noa Amir

Sponsored by Alexion