EM Core Voucher Award 2023: Jakub Famulski
Institution: University of Kentucky
Department: Biology
Rank: Associate Professor
Project Title: Examining the function of cdhr1a, a photoreceptor specific cadherin in zebrafish
About the project: Retinal congenital diseases are a leading cause of blindness, impacting millions worldwide through mutations in over 280 genes. Cone-rod dystrophies, a subtype of these disorders, primarily affect cone photoreceptors, leading to progressive vision loss. CDHR1, a cadherin gene linked to cone-rod dystrophy, is conserved in vertebrates, and exclusively expressed in photoreceptors. Using zebrafish models, we've found CDHR1's localization at the base of photoreceptor outer segments and in calyceal processes, actin-based structures whose function is yet undefined.
How funding from KY INBRE helps with this project: We propose that CDRH1 physically links the photoreceptor and the calyceal process and using funding from KY INBRE we aim to observe these links using transmission electron microscopy.
Anticipated outcomes: Our findings could uncover a novel mechanism of photoreceptor maintenance and function.