Research
The main aim of our research is to better understand the cause of disease conditions affecting the retina and the main visual part of the retina, the macula.
We aim to leverage new insights from disease mechanism studies to develop new treatments to prevent blindness caused by these currently untreatable retinal disease.
Our main disease focuses are macular and retinal diseases caused by:
- PERIPHERIN-2 (PRPH2)
- Late-onset macular degenerations
- Age-related macular degeneration
- Inherited retinal disease
Please see our webpages summarizing the laboratory’s disease specific research.
Our NIH supported laboratory is headed by Shyamanga Borooah MD, Ph.D. Dr Borooah has nearly two decades of experience in research and treating macular and retinal disease.
He leads a dedicated team of highly skilled laboratory researchers, artificial intelligence engineers, genetic counsellors and internationally trained eye doctors who work together with the overall aim of translating new treatments from the laboratory to the clinic.
Our basic science research harnesses our team’s expertise in modelling disease using induced pluripotent stem cells (iPSCs). The research team is trained using the latest molecular techniques to study changes in genes and their downstream effects which ultimately result in disease. The lab team also specializes in many state of the art gene modifying techniques which can be used as treatment approaches.
These include:
- Gene therapy
- CRISPR gene editing
- CRISPR DNA base editing
- PRIME editing
- Antisense-oligonucleotides
Using the right approach for the right disease in the right person opens the way for personalized treatment.
In the clinical imaging lab, researchers use the latest multimodal imaging to study disease and its progression with time. The imaging team uses complex analysis tools and newly developed artificial intelligence algorithms to help identify changes caused by disease and to help predict future changes. Imaging researchers work closely with engineers and genetic specialists to link the effect of genes to patient’s imaging characteristics. These studies will be important to help understand the effect of disease on patients, to predict future disease and to identify new biomarkers for clinical trials.
Finally, the research is linked to the dedicated retinal degeneration clinic based at the Shiley Eye Institute. The clinic now sees patients not only from the San Diego region but also nationally and internationally. The clinic provides a service to patients by combining compassionate care from expert staff while using the latest imaging and genetic testing to diagnose and manage complex retinal degeneration.
The clinic has also been chosen to participate in several groundbreaking treatment trials which have helped test treatments for the next generation of sight saving therapies.