Icon - 'HIDDEN' flagship project explores genomics

'HIDDEN' flagship project explores genomics

For the majority of people, the cause of kidney disease is known, but there are many battling through their disease without any real answers—only adding to the burden and stress that comes with chronic illness.

Royal Brisbane and Women’s Hospital (RBWH) nephrologist Dr Andrew Mallett hopes to provide these answers through his HIDDEN flagship project—one of four rare disease flagship projects announced by Australian Genomics on 1 February 2018.

Dr Mallett has a particular interest in inherited kidney disease and nephrogenetics— the research of kidney disorders that are inherited or genetically caused and the clinical care of patients and families affected by them—and hopes HIDDEN (wHole genome Investigation to iDentify unDEtected Nephropathies) will give his team and his patients the answers they’ve been looking for.

“End stage kidney disease means a patient’s kidneys no longer function properly and they may require treatment like dialysis or a kidney transplant,” Dr Mallett said.

“Unfortunately, my colleagues and I see many patients who don’t know why they have kidney disease. They’ve never had a definitive diagnosis despite our best efforts to identify the cause. And it’s extremely disheartening for them, their families and us as their clinicians.

“Our research will explore genomics, which is an emerging and exciting technology that allows us to examine the coding of all of our genes, and the changes within them, in a rapid and effective way to understand potential genetic or inheritable causes for disorders.

The HIDDEN Flagship is a national project resulting from partnership between the KidGen Collaborative (www.kidgen.org.au) and Australian Genomics (www.australiangenomics.org.au). Locally, it involves collaboration between MNHHS/RBWH Kidney Health Service, Genetics Health Queensland and CHQHHS/LCCH Child and Adolescent Renal Service who operate the Queensland Conjoint Renal Genetics Service, along with the University of Queensland Faculty of Medicine and Institute for Molecular Bioscience.

The KidGen Collaborative, led nationally by Dr Mallett, is an Australian consortium of clinicians, genetic counsellors, genetic diagnosticians and researchers focused on providing a definitive diagnosis to patients with inherited forms of kidney disease whilst working to better understand these diseases in the hope of developing new treatments.  KidGen currently has 14 affiliated renal genetics clinics all around the country, with the first having been established at RBWH as recently as August 2013.

Other key partners for the HIDDEN Flagship include Genome. One at the Garvan Institute, VCGS at Murdoch Children’s Research Institute, Kidney Health Australia, Genomics England and the Aotearoa Renal Genetics Study.

“We’ll be working with patients with unexplained end stage kidney disease to see if genomics may hold the key for some to unlock their kidney diagnosis and investigate how genomics can help them in their clinical journey from a multitude of perspectives – experiences, outcomes, diagnosis, treatment, family, to name just a few.

“We hope that this will reveal ways to better diagnose patients and support them and their families through their disease and its treatment.”

“This is an exciting step forward for the care of our patients. That this is a locally, nationally and internationally linked study makes it all the more significant. Through these partnerships with each other as clinicians and researchers, and with our patients, we are able to lead initiatives like this that help us answer the remaining “big questions” with the tools we are acquiring from the genomic revolution in science and healthcare.”

Australian Genomics is an NHMRC funded national research network that connects 80 organisations committed to integrating genomic medicine into healthcare in Australia. It aims to improve diagnostics, enable early intervention and support equitable access to genomic medicine. Its research is developing the knowledge to translate genomic technology sustainably into clinical practice so patients and their families benefit.

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