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Xiaowu Gai, Ph.D.

Harvard Medical School

Assistant Professor of Ophthalmology, Department of Ophthalmology
Co-Director of Bioinformatics, Ocular Genomics Institute

Massachusetts Eye and Ear

Director of Bioinformatics
Assistant Scientist


Center Affiliations

Research Summary

Dr. Gai is a human geneticist and a bioinformatician whose primary research aims to understand genetic variations and how they are related to human diseases using bioinformatics and genomics methodologies. Dr. Gai has identified choroidal neovascularizations that are associated with several genetic disorders as well as complex diseases such as ADHD and autism. Recently, he has been developing and applying bioinformatics tools for whole-exome data analysis. He has discovered a number of novel disease genes and published two of them so far: NMNAT1 for Leber congenital amaurosis and FBLX4 for mitochondrial disease.

Photo of Xiaowu Gai, Ph.D.

Xiaowu Gai, Ph.D.


Mass. Eye and Ear

243 Charles Street

Boston, MA 02114

T: 617-573-6917