UC Irvine’s Yexuan Cao, MD, PhD, Receives $100,000 KTEF Grant to Investigate New Gene Linked to Inherited Retinal Disease

 Yexuan Cao, MD, PhD from the University of California, Irvine, CA, was awarded a $100,000 grant for FSD1L as a Novel Candidate Gene for Inherited Retinal Diseases: Mechanistic and Therapeutic Investigation.   

Inherited retinal diseases (IRDs) are genetic conditions that damage the light-sensing cells of the retina. These disorders often begin in childhood and can lead to night blindness, loss of peripheral vision, and progressive vision impairment. Although many IRD-causing genes to have been identified, around 25% of patients still do not receive a clear genetic diagnosis. This limits the ability to understand their condition, provide accurate counseling, and develop new treatments.

Dr. Cao’s recent research discovered mutations in FSD1L in six patients with early-onset retinitis pigmentosa (RP), indicating FSD1L as a newly IRD associated gene. However, very little is known about the function of FSD1L in the retina or how these genetic changes might lead to degeneration of photoreceptors, the cells responsible for capturing light.

Dr. Cao’s goal is to determine how FSD1L functions in the retina and to understand how mutations in this gene contribute to vision loss. To achieve this, she will study FSD1L using engineered mouse models to define its normal function and determine how disease-causing mutations disrupt this process.

In addition, she will test a gene therapy approach that delivers a healthy copy of FSD1L to the retina. By improving understanding of FSD1L and testing early therapeutic approaches, this work aims to enhance genetic diagnosis and support the development of future treatments for people with IRDs.