As The Clayco Foundation continues to propel RVCL research and patient-focused efforts, we want to take a second and highlight a very exciting research project spearheaded by Dr. Zhou at Washington University in St. Louis. Dr. Zhou is a distinguished professor in the Department of Biomedical Engineering and has numerous publications, grants, and editorial positions to his name. He is a phenomenal addition to our research team fighting to propel RVCL research into the next age.

Dr. Zhou’s research often revolves around understanding disorders that alter eye structure and function, and he is an expert in using the fruit fly as a specimen that is genetically modified for study. Since RVCL is a genetic disorder that ultimately causes optical issues, Dr. Zhou can and will bring a unique perspective to the problems at hand.

One of the major issues in the study of RVCL is the lack of useable and manipulatable models, a critical tool in any major research project. This is an academic gap that this project will address. An innovative and efficient RVCL disease model based on Drosophila Melanogaster (a.k.a. fruit fly) is being developed by Dr. Zhou’s lab and will provide an arena in which multiple TREX1 (RVCL-causing) mutations can quickly be analyzed and tested. Excitingly, the first run of genetic manipulation of TREX1 in these flies has already altered health and survival outcomes, which means we are on track to develop a usable and representative RVCL model that will accelerate the study.

These fly models are suitable for the advanced research of the RVCL disease throughout the fly lifecycle and will provide a valuable toolbox for genetic screening of drug targets to combat the RVCL disease. We are anxiously awaiting further results in development and looking forward to the ability to quickly screen multiple drugs that may prove beneficial to RVCL patients.

Keep it up, Dr. Zhou!

The Clayco Foundation and RVCL.org are excited and privileged to work with scientific and medical professionals around the world on various research projects that may aid the overall RVCL.org mission statements. One such researcher is Dr. Rejendra S. Apte MD, Ph.D. at Washington University in St. Louis.

Dr. Rajendra Apte is the Paul A. Cibis Distinguished Professor of Opthalmology and Visual Sciences, and his specialties include age-related macular degeneration, retinal issues, and several other biological mechanisms that may be related to RVCL progression. His expertise and research focus are significant value adds to our goals of identifying patients in a more efficient manner.

It has been well established that RVCL patients suffer from retinal lesions and associated problems, though the extent and measurability of these retinal changes are still not fully understood. If further studied, it is possible that a more conclusive ‘retinal signature’ could be discovered that may help diagnose future RVCL patients in a quicker, more beneficial manner.  In addition to diagnosability, a better-detailed understanding of RVCL-associated eye problems may help guide treatment options and responses.

Therefore, The Clayco Foundation has provided research funds to Dr. Apte to advance the project: Determining the extent to which retinal changes can be used as an RVCL diagnostic biomarker, and exploring how new therapies may benefit overall eye health in RVCL patients. The results from this research could be a ‘game-changer’ in identifying RVCL patients sooner, augmenting clinical trials, and a stronger ability to determine which treatments may or may not be efficacious. As studies continue, we will be sure to update our site and invite you to follow us.