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NDS DPhil student and MRC Clinical Research Training Fellow, Miss Catherine Lovegrove, was awarded 'Best Presentation' in the session 'Stones / Imaging / Upper Tract Disorders 2' at the 2024 BAUS Annual Scientific Meeting, held in Birmingham from 24 to 26 June.

Miss Catherine Lovegrove presenting at BAUS 2024

She was presented with the prize for the work entitled 'Genetic variants associated with DGKD, CYP24A1, and SLC34A1 predisposing to increased risk of kidney stone disease via effects on serum calcium or phosphate concentrations'.

This work, with Dr Michelle Goldsworthy, supervised by Dr Sarah Howles, Professor Dominic Furniss and Professor Michael Holmes, described how the group has identified putative therapeutic targets for kidney stone disease.

Kidney stone disease is common but there are few effective medical therapies available. Blood calcium and phosphate levels are known to influence the risk of kidney stones.

'Our goals were to identify genetic regions that impact calcium, phosphate, and kidney stone disease, and to explore therapeutic opportunities for patients,' said Miss Lovegrove.

Firstly, using Mendelian randomisation and colocalisation techniques, the group discovered three genomic regions (associated with DGKD, SLC34A1, and CYP24A1) that causally affect calcium levels, phosphate levels, and risk of kidney stone disease. For each region, they identified a candidate causal variant and, together, these account for 11-19% of kidney stone disease cases in the UK Biobank and DiscovEHR cohorts.

Further, drug-target Mendelian randomisation suggested that decreasing blood calcium or increasing blood phosphate levels by modifying the genetic pathways linked to the putative causal genetic variants could reduce kidney stone disease risk by 70-90%. Finally, laboratory experiments showed that rare, deleterious variants in DGKD impair calcium-sensing receptor signalling, an effect ameliorated by cinacalcet. This supports the therapeutic potential of targeting blood calcium levels via this pathway to prevent kidney stones.

Overall, the results highlight the role of phosphate, activated vitamin D, and calcium metabolism pathways in causing kidney stones and point to opportunities for novel treatment strategies.  

Read the full research paper, 'Genetic variants predisposing to increased risk of kidney stone disease'.

Visit the British Association of Urological Surgeons website for more information about BAUS 2024.

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