Manitoba, Canada — The ophthalmologist of a four-year-old Manitoba boy identified him as the first Canadian to be diagnosed with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV), a rare genetic blinding eye disease.
Canadian Broadcasting Corporation host Margaux Watt interviewed Vinit Mahajan M.D., Ph.D., Stanford professor and vice chair of ophthalmology research, to gain a better understanding of ADNIV. Mahajan was the first to identify the causative gene CAPN5, and his Stanford lab is currently using eye fluids, protein biochemistry, and animal models to study the gene’s protein expression.
Mahajan said, “The first step was identifying CAPN5 as the gene responsible for ADNIV. Now we are working on therapies to target the CAPN5 protein involved in disease. Even though CAPN5 mutations may only affect some 200 people worldwide, the inflammation, retinal degeneration, and scar tissue are common to other eye diseases. Finding a cure for ADNIV could lead to therapies for more common eye diseases.”
Over the course of his career, Mahajan has seen impossible to treat eye diseases become treatable. This gives him hope for an ADNIV cure.
“Our genetic and molecular biology toolkit has grown exponentially, and the emergence of new technologies continues to further our understanding of disease. Strong research funding is the key to cracking some of the most difficult scientific problems, including a cure for ADNIV.”
Mahajan’s interview with CBC can be heard here.