Isabella Gomes, a medical student at Washington University, recently presented at the Vision Science Journal Club. Her presentation focused on severe eye degeneration in a 68-year-old man.
The study Isabella Gomes presented found a new genetic change (CNV) in the RHO gene that causes a type of inherited eye disease (adRP). This was seen in a 68-year-old man who had four active copies of the rhodopsin gene and showed severe eye degeneration. The researchers used lab-grown mini retinas to mimic the patient’s eye condition and found that by using a compound called Photoregulin3 (PR3) to target the NR2E3 gene, they could partially fix the problem with rhodopsin protein. This suggests that controlling the expression of the RHO gene is very important and that the disease is caused by having too much of the rhodopsin protein.
About Isabella Gomes
Isabella Gomes (she/her), MPH, MA, is a rising fourth-year medical student and Class President of her cohort at Washington University in St. Louis. She is currently in her research year, working as a clinical study coordinator and research fellow in Dr. Shiming Chen’s lab, exploring the clinical manifestations of Cone-Rod Homeobox (CRX) mutations. Most recently, Isabella completed the ITVS pathway translation in vision science, a seminar series led by ophthalmology faculty at WashU, during which she learned about various animal and human models in vision sciences.