Dr Malcolm Starkey has received two grants to aid his group’s research on cystinuria, a rare kidney stone disease.
Cystinuria, is a chronic condition, involving the formation of stones made from the amino acid cystine in the kidney. This disease is caused by genetic mutations in genes that encode proteins that allow the reabsorption of the amino acid cystine in circulation.
Patients with cystinuria accumulate cystine in their urine, forming crystals that grow into stones that can cause blockages in the urinary tract. These stones recur and often require surgical removal. There are currently limited treatments, and those available are ineffective and have many side effects.
Dr Starkey’s Urinary Tract Immunology and Microbiology research group received an initial philanthropic donation from the Kiriwina Investment Company, equating to $120,000 over five years.
“With this funding support, we established a novel mouse model of cystinuria based on the most common point mutation causing this disease using CRISPR/Cas9 gene editing,” Dr Starkey said. “Nirmal Bhatt, a PhD student in our team, eloquently characterised this model and showed its translational capacity.”
The unique model developed from this research was then presented to Travere Therapeutics, focusing on the model’s benefits for drug development.
Travere Therapeutics, based in San Diego, USA, and specialises in rare diseases, with their profile involving an FDA-approved therapeutic for cystinuria.
Travere Therapeutics awarded the group $373,000 to test next-generation proprietary compounds for cystinuria.
The Kiriwina Investment Company also continues to support this research through annual donations.
The Urinary Tract Immunology and Microbiology research group studies inflammatory and infectious diseases of the urinary tract (bladder and kidneys) with the aim of discovering new treatment strategies.
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