PKD Australia funding to help develop diagnostic tool for kidney disease

Garvan researcher Dr Amali Mallawaarachchi has been awarded a grant from the Polycystic Kidney Disease Foundation of Australia to support the development of an improved genomic diagnostic tool for individuals with kidney disease.
12 May 2017

Dr Amali Mallawaarachchi, a genomics researcher in the Neuroscience Division of the Garvan Institute of Medical Research, was recently awarded one of four grants to fund polycystic kidney disease research in Australia.

The funding, awarded by PKD Foundation Australia, will support Dr Mallawaarachchi and a team of clinicians and scientists from Garvan’s Kinghorn Centre for Clinical Genomics and St. Vincent’s Hospital, as they work on developing a new test that uses whole genome sequencing to diagnose autosomal dominant polycystic kidney disease (ADPKD).

ADPKD is an inherited and currently incurable disorder affecting over 1 in 1000 Australians, in which cysts progressively expand and destroy the kidneys, eventually causing renal failure. Earlier diagnosis is vital in order to enable earlier intervention, which may prevent renal failure.

Dr Mallawaarachchi says, “Although the main genes that cause ADPKD are known, gene testing for this condition is particularly complicated and expensive.

“This is due to six so-called ‘pseudogenes’ – non-functional genes that are almost identical in DNA sequence to the causative genes, and located right next to them in the genome, making it very difficult for traditional gene sequencing methods to accurately diagnose ADPKD.”

Dr Mallawaarachchi, who is also a kidney specialist and Clinical Genetics Fellow at Liverpool Hospital, has been researching ADPKD for a number of years, and recently published work demonstrating that whole genome sequencing may provide a more accurate, and less expensive, method of genetic diagnosis than existing techniques.

The new funding will enable Dr Mallawaarachchi to perform more extensive analyses of the whole genome approach to diagnosing ADPKD. To do this, the team have partnered with specialists at the Mayo Clinic, USA, who have provided samples from 30 individuals with ADPKD, whose genomes will be sequenced and analysed at Garvan’s Kinghorn Centre for Clinical Genomics.

“Thanks to the funding from PKD Australia, we are hopeful that this research will lead to the establishment of a new genomic test for individuals and families with ADPKD in Australia,” says Dr Mallawaarachchi.

“In the long term, improved testing methods will substantially advance our understanding of the underlying cause of ADPKD – a vital step in curing the disease.”