Philanthropic Gift Fuels Breakthroughs in Restorative Treatments for Hereditary Blindness
ST. LOUIS, MO – November, 2024 — WashU Medicine John F. Hardesty, MD Department of Ophthalmology and Visual Sciences is proud to announce a generous $5 million investment from a Polish donor, aimed at advancing innovative genetic and stem cell research led by Shiming Chen, PhD, renowned for her pioneering work on the CRX gene and its association with blinding diseases.
Dr. Chen’s groundbreaking discovery in 1997—cloning the CRX gene and identifying its role in hereditary blindness—laid the foundation for her ongoing work in CRX mutation research. The CRX mutation is linked to various retinal degenerative diseases that progressively impair vision. Currently, there is no cure for conditions caused by CRX mutations, making Dr. Chen’s research a beacon of hope for those affected.
In partnership with Rithwick Rajagopal, MD, PhD and a dedicated clinical and scientific research team, Dr. Chen’s lab is currently conducting a multi-center natural history study on CRX-related blindness. This study gathers crucial information about disease onset and progression, a critical step in preparing for future clinical trials aimed at restoring sight for those affected by CRX mutations.
With the additional funding, Dr. Chen and her team will continue their advanced studies to develop gene and stem cell therapies targeting CRX mutation-related vision loss. By utilizing both in-vivo animal models and innovative in-vitro stem cell-derived human retinal organoids, Dr. Chen’s lab is working to pinpoint optimal therapeutic interventions that have the potential to halt or reverse the retinal degeneration associated with CRX mutations.
“This research has reached a pivotal point,” says Dr. Chen, whose lab has made significant strides in developing gene therapy vectors and establishing animal models for dominant CRX retinopathies. “The support from our generous donor will allow us to accelerate our research, bringing us closer to human clinical trials and the possibility of life-changing treatments for those suffering from CRX-related blindness.”
This investment will ensure that Dr. Chen and her collaborators have the resources necessary to bring this research into its next phase, allowing for advancements in gene therapy protocols and the exploration of stem cell applications for those patients and families impacted by the CRX mutation. This vital support strengthens Washington University School of Medicine’s position as a global leader in genetic and stem cell research and underscores the transformative potential of philanthropy in advancing science for the public good.
About WashU Medicine
WashU Medicine is a global leader in academic medicine, including biomedical research, patient care and educational programs with 2,900 faculty. Its National Institutes of Health (NIH) research funding portfolio is the second largest among U.S. medical schools and has grown 56% in the last seven years. Together with institutional investment, WashU Medicine commits well over $1 billion annually to basic and clinical research innovation and training. Its faculty practice is consistently within the top five in the country, with more than 1,900 faculty physicians practicing at 130 locations and who are also the medical staffs of Barnes-Jewish and St. Louis Children’s hospitals of BJC HealthCare. WashU Medicine has a storied history in MD/PhD training, recently dedicated $100 million to scholarships and curriculum renewal for its medical students, and is home to top-notch training programs in every medical subspecialty as well as physical therapy, occupational therapy, and audiology and communications sciences.
For more information about Dr. Chen’s research or WashU Medicine, please visit:
Shiming Chen, PhD | Chen Lab | WashU Medicine