Wallace Marshall & Jacque Duncan Part 2: Ciliopathies and Retinal Degeneration

In the second video, Dr. Duncan explains that the inner segment of photoreceptor cells, where proteins are made, and the outer segment, where light is transduced into a chemical signal, are joined by connecting cilia. Mutations in proteins that localize to the connecting cilia can lead to photoreceptor cell death and vision loss.  In a number of syndromic diseases, such as Bardet-Biedl Syndrome, retinal degeneration is just one of several symptoms all of which are caused by mutations in cilia throughout the body.  By identifying specific gene mutations causing retinal degeneration, Duncan hopes that better treatments for patients with these syndromes will be developed.