By Rosie Hales, Communications Officer
After spending much of his career conducting extensive research on vitamin D metabolism, Queen’s researcher Dr. Glenville Jones has been featured in the Canadian Institutes of Health Research’s (CIHR) “celebrating the impact of health research” series.
The CIHR write-up focuses on the impact of Dr. Jones’ research on the idiopathic infantile hypercalcemia (IIH) – a rare disease that causes the build-up of calcium in the kidneys and eventually leads to kidney stones in the patient.
Along with two German pediatric nephrologists, Dr. Jones showed that one of the main causes of IIH is a genetic mutation of the enzyme CYP24A1 that prevents the breakdown of vitamin D. Since this discovery, there is now an increased ability to diagnose, manage and treat hypercalcemia in children and adults.
“Most hypercalcemia patients eventually develop kidney stones, and everyone knows that the passing of kidney stones is one of the most painful experiences a human can suffer,” says Dr. Jones, a biochemistry professor in the School of Medicine. “A few IIH patients will go on to suffer from permanent kidney damage so it’s important that research in this area continues to develop.”
The write-up in the CIHR-IMHA special publication is a wonderful recognition of the impact of our basic science work on a clinically-relevant problem.
- Dr. Glenville Jones
CIHR’s special publication was created as a way to celebrate the value and impact of research in areas such as musculoskeletal health, arthritis, skin diseases and oral health conditions, as well as to demonstrate how important funding is to healthcare.
Dr. Jones acknowledges the benefits CIHR’s special publication will have on his research.
“The write-up in the CIHR-IMHA special publication is a wonderful recognition of the impact of our basic science work on a clinically-relevant problem,” says Dr. Jones. “In the past, knowledge and publicity of our work has helped spawn the Idiopathic Infantile Hypercalcemia-Europe-Canada-Collaboration which works with IIH patients around the world to investigate their illness and establish new treatment protocols.”
Dr. Jones' research is acknowledged as a part of CIHR's entire "celebrating the impact of health research" series, with an article titled "When too much is definitely too much: genetic mutation prevents vitamin D breakdown."