March 7, 2023

March 2023: OXGR1 variants novel candidate disease gene for kidney stone disease

Loading ...

Kidney stone disease affects approximately one in 11 people over their lifetime and recent research has shown that rare genetic variants contribute to 15 percent cases. That fraction is even higher among children. A team of researchers at Boston Children’s Hospital had reason to believe there might be additional genetic links not yet identified. Amar Majmundar, MD, PhD, a pediatric nephrologist and researcher, joins GenePod to discuss the results of a recent study identifying the variant OXGR1 as a novel candidate disease gene for kidney stone disease, which he and his colleagues published in the journal Genetics in Medicine.