Bin Guan, Ph.D., FACMG

Bin Guan is the Director of the Ophthalmic Genomics Laboratory at the National Eye Institute, a CLIA-certified genetic diagnostic lab specialized in biorepository and diagnostics for patients with inherited eye diseases. He is board-certified in the Laboratory Genetics and Genomics by the American Board of Medical Genetics and Genomics. He has a broad background and unique combination of expertise in biology, biochemistry, genetics, genomics, and bioinformatics. After obtaining his PhD from the University of Maryland Baltimore County (UMBC), he trained in Cancer Genomics at the Johns Hopkins University followed by Endocrine Genetics at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK/NIH). He completed his medical genetics fellowship at the National Human Genome Research Institute (NHGRI/NIH) in 2021.

The goal of our research is to understand which sequence variants and how they contribute to heritable ocular disorders including those in children and adults with rare eye diseases and syndromes. Our efforts center on a few areas: 1) improve variant classification using large datasets and automated algorithms; 2) to identify genes and variants that evade detection in commercial genetic testing; 3) to prove gene:disease association using cell and animal models; 4) to perform preclinical studies to develop future therapeutics for genetic eye diseases. Our research often involves collaborations with experts on NIH campus and around the world.