Janey L. Wiggs, M.D., Ph.D. is a physician-scientist at the Massachusetts Eye and Ear Infirmary and Harvard Medical School. She is currently the Paul Austin Chandler Professor of Ophthalmology at Harvard Medical School and is the Vice Chair for Clinical Research in Ophthalmology at the Massachusetts Eye and Ear Infirmary. She also directs the CLIA-certified genetic testing laboratory at the Massachusetts Eye and Ear Infirmary and is a co-director of the Ocular Genomics Institute.
Dr. Wiggs received her B.A. and Ph.D. degrees in biochemistry from the University of California at Berkeley and her M.D. degree from Harvard Medical School. She did post-doctoral training in molecular genetics of retinoblastoma under the direction of Dr. Ted Dryja. Dr. Wiggs completed the ophthalmology residency at the Massachusetts Eye and Ear Infirmary and received fellowship training in glaucoma and also in medical genetics and is one of only a few ophthalmologists certified by both the American Board of Ophthalmology and the American Board of Medical Genetics.
Dr. Wiggs was the inaugural chair of the Genetics Group for ARVO and is an ARVO gold fellow. She currently serves on the editorial boards of IOVS, JAMA Ophthalmology, Molecular Vision, Journal of Glaucoma, and Annual Reviews in Vision Science. She is a member of the scientific advisory boards for the Glaucoma Research Foundation, the Glaucoma Foundation, and Research to Prevent Blindness and is a past member of the National Advisory Council of the National Eye Institute. She has received the Heed Award, the Heed/Knapp Award, the Research to Prevent Blindness Scholar Award, the AAO Honor Award, the Lew Wasserman Merit Award, the Alcon Research Award, the David L. Epstein award (ARVO), Mildred Weisenfeld award (ARVO), the Heed-Gutman award and was a winner of the NEI Audacious Goal competition. She has delivered numerous named lectures including the Clinician-Scientist Award lecture (American Glaucoma Society) and the Shaffer Lecture (American Academy of Ophthalmology). She is a member of the Glaucoma Research Society, the American Ophthalmological Society, the Academia Ophthalmologica Internationalis a former member of NEI scientific advisory council, and an elected member of the National Academy of Medicine.
Dr. Wiggs has published 213 original peer-reviewed research investigations as well as 75 reviews, editorials, and book chapters. Her publications have been in top journals including New England Journal of Medicine, Nature Genetics, Nature Communications, American Journal of Human Genetics, Cell, Proceedings of the National Academy of Science, PLoS Genetics, Human Molecular Genetics and Genetics in Medicine as well as top-tier Ophthalmology journals including Ophthalmology, JAMA Ophthalmology, American Journal of Ophthalmology and IOVS.
Dr. Wiggs is a pioneer and international leader in ocular genetics. Her research program is focused on the discovery and characterization of genetic factors that contribute to the blinding eye disease glaucoma and has been continuously funded by the National Eye Institute (NEI) for over 30 years. She is the PI of the NEIGHBORHOOD consortium for Primary open-angle glaucoma genetics and a founding member of the International Glaucoma Genetics Consortium. She has also participated in research programs funded by the US-INDO joint working group (NEI) and the NEI eyeGENE consortium and is currently the Ocular Domain co-chair for the NIH-funded ClinGen project.
Dr. Wiggs has discovered many novel genes associated with common forms of glaucoma with complex inheritance. She has led large primary open-angle glaucoma genome-wide association studies and has had critical roles in GWAS studies identifying novel loci for intraocular pressure and for exfoliation glaucoma. She has also directed the only normal tension glaucoma GWAS that identified genomic regions associated with disease risk. She also studies the genetic etiologies of familial types of glaucoma and has recently identified EFEMP1 and THBS1 as causal genes for childhood forms of glaucoma. Ongoing research studies include: a multi-ethnic normal tension glaucoma GWAS; a metabolomics study of blood plasma in exfoliation glaucoma patients and controls; whole genome sequencing of families affected by early-onset forms of glaucoma, investigations related to contributions of rare variants to primary open-angle glaucoma and evaluation of polygenic risk burden in at-risk populations.
An overarching goal of Dr. Wiggs’s research is to use disease-related genes to develop gene-based testing and therapeutics. Using the retinoblastoma gene, she developed one of the first genetic tests for human disease and the first genetic test for an eye disease. This test allowed for the timely identification of carriers of retinoblastoma mutations who would benefit from presymtomatic surveillance. Subsequently, together with Eric Pierce, she developed a next-generation-based sequencing test for over 300 ocular disease genes including all the genes known to cause glaucoma. She is currently using data from genome-wide association studies to develop glaucoma tests for early detection of primary open-angle glaucoma based on polygenic risk scores.