For families of children with a genetic disorder — including rare, inherited metabolic diseases — diagnosing the problem is the first step. Next is understanding the nature of the disorder and determining the best plan to treat, manage, and live with it. At Stony Brook Children's, we can help.
Our Division of Genetics provides comprehensive diagnosis, counseling and treatment of patients with inherited or congenital disorders. In addition, we are Long Island's only Inherited Metabolic Disease Specialty Center, evaluating newborns discovered through state-mandated screening to have inborn errors of metabolism, and then following those children lifelong. In total, we see more than 1,600 children and adults each year. About 200 of these are children with inherited metabolic disorders. We also engage in significant research and education. Through research, we seek a greater understanding of genetics and new ways to treat inherited disorders. Through our education endeavors, we share our knowledge with families and the community, as well as with medical students and residents enrolled in the Stony Brook University School of Medicine.