Lev Prasov, M.D., Ph.D., Assistant Professor of Ophthalmology and Visual Sciences and Assistant Professor of Human Genetics, has been awarded a grant from The Glaucoma Foundation for his work in childhood glaucoma genetics. “The main goal of this multisite research is to understand the genetic causes of childhood glaucoma. Currently, less than 20 percent of cases can be linked to a specific gene,” says Dr. Prasov. “We aim to identify the genetic mechanisms underlying early-onset glaucoma. By conducting whole genome sequencing, we hope to uncover genetic causes from some of the remaining 80 percent of cases and use this to better understand how glaucoma develops.” There are several conditions that can be connected to childhood glaucoma, and many are often missed in children with neurodevelopmental delays. "One of our aims is to find new links between these developmental syndromes and glaucoma through genetic analysis,” he says. “We’re searching for genes that haven’t been linked to glaucoma before, including those related to known syndromes and entirely new genes. By using whole genome sequencing, we can look at all of a patient’s DNA for any changes, large or small, that could cause glaucoma." Knowing a patient’s specific form of glaucoma can guide treatment choices and inform family planning decisions. “When we use genetic testing to sort patients into different groups, we can better predict which treatments, such as certain surgeries, are most likely to work,” says Dr. Prasov. “Genetic information also allows us to advise families about the chances of having another child with glaucoma at birth. By looking at the genetics behind glaucoma, we can get a much clearer picture of what causes it and why some people have elevated eye pressure.” This work builds on a larger collaborative effort between Dr. Prasov’s team and pediatric ophthalmologists, geneticists, and glaucoma specialists, including: Bin Guan, Ph.D., and Brian Brooks, M.D., Ph.D., at the National Eye Institute; Adam Jacobson, M.D., at the U-M Kellogg Eye Center; Brenda Bohnsack, M.D., Ph.D. and Jennifer Rossen, M.D., at the Ann & Robert H. Lurie Children's Hospital of Chicago; Sharon Freedman, M.D., at Duke Health; Sayoko Moroi, M.D., Ph.D., at The Ohio State University; and Robert Hufnagel, M.D., Ph.D., at Kaiser-Permanente.