IPRD funded research by Brian Miller, Ph.D.

Some children with retinitis pigmentosa, a disease that causes early and progressive vision loss, carry a rare mutation in a gene called HKDC1. Scientists recently discovered this gene and know very little about how it works. This project studies how the disease‑linked mutation changes the HKDC1 protein’s behavior. The team will test whether the mutation weakens the protein’s normal activity or disrupts other roles it may have in cells. Understanding exactly how the mutation causes vision loss will help guide future treatments and support a larger NIH grant aimed at developing therapies for affected children.