Shyamanga Borooah, MBBS, FRCP(Edin) FRCSEd, FRCOphth, PhD
Associate Professor
Profile on Shiley Eye Institute
Dr. Borooah completed his medical training at Imperial College London. He then undertook his clinical residency in Ophthalmology in Southeast Scotland before two clinical fellowships in Medical Retina and Uveitis, the last of which was at Moorfields Eye Hospital, London.
During his ophthalmology residency, Dr. Borooah developed an interest in the study of inherited diseases of the retina and in particular diseases of the retinal pigment epithelium. He was awarded a Wellcome Trust scholarship to pursue a Ph.D. during which he generated a novel model of macular degeneration using human induced pluripotent stem cells from patients with a rare inherited form of macular degeneration.
The work from his Ph.D. studies led to the award of a Fulbright Scholarship to continue post-doctoral studies at the University of California, San Diego to try to translate treatments for inherited retinal and macular disease.
In 2019, Dr. Borooah joined the faculty at the University of California, San Diego, Viterbi Family Department of Ophthalmology. The main focus of Dr. Borooah’s research is to understand the disease mechanism causing clinical disease and by understanding this to develop novel treatments for autosomal dominant diseases and macular degeneration. His lab uses stem cell and gene therapy/gene editing approaches for inherited retinal disease and macular degenerations.
Dr. Borooah’s laboratory allies well with his clinical work. He treats patients with retinal disease including age-related macular degeneration and inherited retinal degeneration. His clinical research uses multimodal imaging and state-of the art imaging analysis to better understand the natural history of these disease.
Additionally, Dr. Borooah is the Principal Investigator and Co-Investigator on a number of clinical trials including groundbreaking gene therapy trials for inherited retinal disease.
His research is currently supported by the National Institute of Health and the Nixon Visions Foundation. He regularly speaks at local and national meetings to better inform the public on progress in the development of treatments to save sight.
Kristyn Huffman MSc
Kristyn Huffman joins the Borooah Lab in the Shiley Eye Institute with a BS in Molecular Biology and has over 11 years’ experience in ophthalmic research.
Her past work in ophthalmology includes porous silicon drug delivery systems to provide longer-lasting therapeutics for retinal diseases, creating animal models of retinal disease, and testing the safety and efficacy of a subretinal prosthesis. Kristyn’s curiosity drives her to understand how things work and she enjoys working closely with ophthalmologists that can guide the research to have a real impact on patients’ lives.
Out of the lab, Kristyn enjoys swimming, archery, and exploring nature with her family and dog.
Jennifer Y. Hernández Juárez PhD
Jennifer is a postdoctoral fellow in the Borooah lab at UCSD. She undertook her PhD in Genetics and Molecular Biology at CINVESTAV-Mexico, Mexico City. She is interested in genetic diseases and how they relate to health.
Currently, she is studying hereditary retinal diseases. Her current projects include using patient-derived induced pluripotent stem cell and modified mouse models of human disease. Diseases that she is studying include those with mutations in PRPH2, TIMP3, and C1QTNF5. She is exploring novel therapeutic options for these diseases which currently have no treatment options. Using CRISPR / Cas9 gene editing is the main focus of her work.
In addition to her interest in learning and research, Jenny loves spending time with her family and friends. She likes to practice yoga and swim.
Sandrine Amudhan
Sandrine Amudhan is a Research Associate at UCSD Health’s Shiley Eye Institute in the Borooah Lab. A recent graduate of UC San Diego with a B.S. in Molecular and Cellular Biology, Sandrine began her research career in 2022 at UCSD Health’s Quantitative Cancer Control Lab, where she developed a strong foundation in next-generation sequencing, cancer biology, genetics, and bioinformatics. Now in the Borooah Lab, she focuses on understanding genetic mutations that affect retinal health, specifically studying genes like EFEMP1, PRPH2, and CFH for their role in retinal diseases.
Outside of her professional pursuits, Sandrine enjoys reading, crocheting, and spending quality time with family and friends. Her curiosity and dedication continue to drive her research, aiming to contribute to potential therapeutic approaches for retinal diseases.
Shadi Al Ashwal
MBBS MSc PhD
Dr. Shadi Al Ashwal is a Physician-Scientist, completing his doctoral training in Ophthalmology at Florence University, Italy, focusing on the long-term follow-up of patients with central retinal vein pathology. He also holds a Master’s in Refractive Surgery and anterior segment eye pathology from Naples Federico II University.
With over 18 years of experience in ophthalmology, Dr. Al Ashwal has excelled in improving medical retina services, with leadership roles in Qatar’s Ministry of Public Health which included spearheadingnew national eye health initiatives and in developing diabetic retinopathy screening programs.
Shadi joined the University of California, San Diego as an Ocular Genetics Fellow in July 2024. With his fellowship he aims to enhance institution-wide ocular genetic counseling, improve diagnostic precision and patient care pathways. His current research focuses on correlating genotype and phenotype in rare genetic eye diseases, and leveraging advanced imaging technology to advance diagnostic and treatment strategies.
In his spare time he loves traveling and spending time with his family and children.