Experts at Newcastle University has identified a gene called BSND aka modifier gene which determines the severity of kidney disease in patients with CEP290 mutations of Joubert syndrome.

Joubert syndrome is a complex disorder affecting approximately one in 80,000 new-borns causing varying degrees of physical, mental and sometimes visual impairments. The syndrome is often associated with sever kidney disease that requires dialysis and ultimately transplantation.

The research is a major step forward, and in future may be able to offer a therapy that switches on the protective modifier gene and reduces the development of genetic kidney disease. The discovery paves the way for personalised therapies in patients with the inherited kidney disease.