The Division of Genetics is part of UBMD Pediatrics and affiliated with the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo. This Division provides diagnostic, management and genetic counseling services to pediatric and adult patients, including familial cancer risk assessment; genetic evaluation, diagnosis, treatment and management of genetic disorders and inborn errors of metabolism; and genetic counseling for reproductive/prenatal genetics.
The Division includes an Inherited Diseases Specialty Center, designated by the New York State Department of Health, and a Krabbe Disease Screening Unit. The Metabolism Program provides enzyme replacement therapy for Gaucher disease, Fabry disease and mucopolysaccharidosis type 1 (Hurler syndrome, Scheie syndrome). All physicians are certified with the American Board of Medical Genetics, and all counselors are certified with the American Board of Genetic Counselors. The Division works very closely with both the Cytogenetics and Molecular Genetics Laboratory and the Robert Guthrie Biochemical & Molecular Genetics Laboratory.