Whole genome sequencing to diagnose kidney disease
Dr Amali Mallawaarachchi, a genomics researcher at the Garvan Institute of Medical Research, has been awarded a grant by PKD Foundation Australia to support the development of an improved genomic diagnostic tool for individuals with kidney disease.
The funding will support Dr Mallawaarachchi and her team as they work on developing a new test that uses whole genome sequencing to diagnose autosomal dominant polycystic kidney disease (ADPKD) — an inherited and currently incurable disorder in which cysts progressively expand and destroy the kidneys. Earlier diagnosis is vital in order to enable earlier intervention, which may prevent renal failure.
“Although the main genes that cause ADPKD are known, gene testing for this condition is particularly complicated and expensive,” Dr Mallawaarachchi explained.
“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 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 her to perform more extensive analyses of the whole genome approach to diagnosing ADPKD.
To do this, Dr Mallawaarachchi and her team have partnered with specialists at Mayo Clinic, USA, who have provided samples from 30 individuals with ADPKD. The genomes from these samples 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,” Dr Mallawaarachchi said.
“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.”
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