Dr. David Williams at UCLA to begin mitochondrial defects study to help find a cure for Choroideremia

Springfield, MA., March 06, 2020

The Choroideremia Research Foundation recently announced a grant award for $61,000 to David Williams, PhD, Director of the Photoreceptor- RPE Biology Lab, Professor of Ophthalmology, and Professor of Neurobiology at the University of California – Los Angeles School of Medicine.

The study being conducted by Dr. Williams is called:  Understanding Mitochondrial Defects in Choroideremia RPE. This project will investigate to determine the possible cause of retinal degeneration in CHM patients.  Within each cell in the human body there are several structures with different individual functions.  One structure, called the mitochondria, is responsible for energy production and similar tasks for the cell. Preliminary data suggests that mitochondrial function is impaired due to the lack of REP1 caused by the mutation in the CHM gene. Dr. William’s research will build on these preliminary findings by studying mitochondria in RPE cells of CHM patients to determine why mitochondria may be defective in CHM, and how that causes CHM RPE cells to decline in function and eventually die. The goal of this study is to provide new insights into disease mechanisms, aid in the development of biomarkers to monitor disease progress, and provide key information for the identification of novel therapeutic targets.

“We are very excited to award this grant to Dr. Williams, “says Chris Moen MD, Chief Medical Officer of the CRF.  “Providing funding for this project is another example of our commitment to lead the way in supporting groundbreaking research to find a cure for CHM.”  To view a complete list of research CRF has funded to date, visit: https://curechm.ca/research/#funded


About Choroideremia
Choroideremia (CHM) is a rare inherited form of blindness affecting approximately 1 in 50,000 people. Due to its x-linked inheritance pattern males are most severely affected with females usually experiencing milder visual impairment. Symptoms begin in early childhood with night blindness and restriction of visual field being the earliest noticeable effects, eventually progressing to complete blindness. An estimated 6,000 people in the United States and 10,000 in the European Union are impacted by Choroideremia. There are currently no approved treatments for Choroideremia.

About the Choroideremia Research Foundation Inc.
The Choroideremia Research Foundation was founded in 2000 as an international fundraising and patient advocacy organization to stimulate research on CHM. Since its inception, the CRF has provided over $3 million in research awards and is the largest financial supporter of CHM research worldwide. Research funded by the CRF has led to the development of a CHM animal model, the pre-clinical production of gene therapy vectors currently in clinical trials, and the CRF Biobank which stores tissue and stem cell samples donated by CHM patients.