Answering questions behind unexplained end stage kidney disease

RBWH Nephrologist Dr Andrew Mallett

For the majority, the cause of their 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—one of four rare disease flagship projects announced by Australian Genomics on 1 February.

Dr Mallett has a particular interest in inherited kidney disease and nephrogenetics—the study of kidney diseases that are genetically caused and the care of patients 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. It allows us to examine the coding of all of our genes, and the changes within them, so that we can understand potential genetic or inheritable causes for diseases.

“We’ll be working with patients with unexplained end stage kidney disease to see if genomics is the key to ‘unlock’ their kidney diagnosis, and help inform their clinical journey from diagnosis and treatment, through to long-term outcomes, and patient and family support.

The HIDDEN Flagship is the result of a partnership between the KidGen Collaborative (led nationally by Dr Mallett) and Australian Genomics, and is supported by the Queensland Conjoint Renal Genetics Service of which Metro North Hospital and Health Service’s Kidney Health Service and Genetic Health Queensland are collaborators.