Our team at Stanford’s Byers Eye Institute is moving from symptom based treatments to a precision health approach using next-generation molecular biomarkers of health and disease. Our goal is to identify diseases before they begin, select the best therapies for each unique patient, and improve surgical outcomes.
Physicians have historically used a patient’s physical signs and symptoms in a constant race to cure little understood diseases. Standardized treatments, often driven by trial and error, cost patients physically and financially. Recent advances in proteomics, genetics, molecular sciences, medical imaging, and artificial intelligence are changing the playing field, putting eye surgeons in the lead by allowing them to cure diseases in their earliest stages or even catching them before they appear. Precision health uses big data sets and high-powered computers to analyze molecular and clinical information to customize patient care. Molecular diagnoses and targeted treatments hold the key to personalized health that will enable us to live better, longer lives. This is especially true in eye diseases that impact daily life and where treatments may be limited. The collaboration between Stanford’s surgeons at Byers Eye Institute, basic scientists, engineers, patients, and entrepreneurs will unlock the causes of eye disease and bring innovative treatments to the clinic and operating room.
- Patient Care
- Healthy Eyes
- Molecular Surgery
- Tissue Bank for Molecular Analysis
- Non-invasive Biomarkers (Imaging)
- Big Data Phenomics
Precision health starts by addressing the unique emotional and physical needs of each patient as they face medical conditions that can be debilitating. As we physicians and scientists delve deeper into the molecular world to understand and cure diseases, it is crucial that we continue to focus on the whole patient by communicating empathy, providing educational information, and fostering an environment of trust. We recognize that patients who feel their doctors are empathetic, build trust and partnerships that improve physical outcomes through better compliance. Patients who have trusting relationships with their doctors also exhibit higher levels of mental and social well-being and satisfaction with their care.
In order to treat a diseased eye, we need to understand the makeup of a healthy eye. Surprisingly, we don’t know the molecular details, but Stanford ophthalmologists are the first to catalog the thousands of proteins associated with a healthy eye. This proteomics database provides the basis to investigate the proteins that reveal disease at the earliest stage and point to new therapies. Byers Eye Institute doctors communicate the holistic lifestyle effects on vision health. Diet, exercise, emotional well-being, and aging can all impact the quality of a person’s vision. We are investigating how lifestyle correlates to cataract, glaucoma, age-related macular degeneration, and diabetic retinopathy, among other conditions.
We are partnering with academic researchers and Silicon Valley technology companies to identify genetic risk factors for eye disease in the general population. For specific patients and families, we are using next-generation DNA sequencing to discover the underlying genetic cause of disease. Personalized care promises to pinpoint specific diagnoses and treatments while addressing the impact on family. Our laboratory has identified the CAPN5 gene as the cause of ADNIV, an inherited autoimmune eye disease. This landmark discovery represents the first identified gene that causes uveitis - a blinding inflammation within the eyes. The condition is also characterized by abnormal neovascularization and fibrosis in the eye. We are using crystallography to make CAPN5 proteins that will be used to test drugs to treat ADNIV. Similar genetic strategies are being applied to other eye diseases.
To optimize surgical outcomes, Stanford eye surgeons are investigating how combining surgery with molecular therapies can improve vision. We are investigating proteomics analysis of eye fluids to improve diagnostics and personalized therapies. Combining surgery with the injections of specific molecules can advance surgical outcomes. Stanford faculty are involved in developing gene therapy to fix faulty genes, cell transplants to replace unhealthy tissue, and artificial retinas to restore sight.
Tissue Bank for Molecular Analysis
To bring highly personalized, precision medicine to eye disease requires careful collection of human eye tissues in a biorepository. Stanford ophthalmologist are creating an advanced tissue collection system to preserve, annotate, and analyze eye tissues using the most advanced molecular techniques. The goal will be to identify molecular biomarkers that will diagnose disease earlier and point to specific treatments for individual patients. A major barrier to this type of translational research is the absence of appropriate infrastructure in the operating room and laboratory. Stanford eye surgeons are building on their early work that developed novel instruments for tissue collection, an efficient database system to interface the operating room with the science lab, and proteomic analysis of retinal disease. Our first studies using an eye disease biorepository, a first of its kind, have identified new biomarkers to diagnose and treat inflammatory retinal diseases. With this validation we are working to acquire the personnel, instrumentation, and analytic systems to expand the biorepository to all areas of eye disease at the Beyer’s Eye Institute.
Non-invasive Biomarkers (Imaging)
Advanced retinal imaging using fundus cameras, scanning laser ophthalmoscopy and OCT as a source of biomarkers for diagnosis, characterization and prognosis of chronic illness or long-term conditions is a relatively new field of study that relies on computational methods, image analysis and data science. An increased collaboration between imaging scientists and clinicians could be the key to more effective and economical care through this simple, non-invasive technique. The continued advances in imaging technology makes breakthroughs in retina research highly likely in years to come.
Big Data Phenomics
By developing powerful databases with simplified access and query processes, we are linking the operating room to the laboratory and to clinical research teams. Characterizing eye disease phenotypes is critical to understanding and treating disease processes. Our projects include deployment of a high-throughput, scalable eye disease screen for discovery of clinically significant animal models and instrument development for high-throughput human eye disease phenotyping.
Many eye disease processes may be better characterized by protein expression rather than gene expression. We are analyzing human eye fluids to discover proteins that signal disease and point to personalized therapies. Our projects include reagent development for high-throughput discovery of novel druggable targets.