We provide clinical genetic evaluation and care for approximately 700 pediatric and adult outpatients and inpatients each year.
Our active laboratory and clinical research programs emphasize molecular and biochemical approaches to the understanding of major human genetic disorders. Current research includes studies on the role of dopamine-receptor genotypes in relation to food preference in obese and lean individuals.
Both our Cytogenetics and Molecular Genetics Laboratory and the Robert Guthrie Biochemical and Molecular Genetics Laboratory provide laboratory services for patients seen in the division, including the diagnosis of chromosomal abnormalities and inborn errors of metabolism, respectively.
Our Cytogenetics and Molecular Genetics Laboratory completes 1,700 chromosome analyses annually, including 1,000 from prenatal diagnostic cases.
The Guthrie laboratory performs more than 5,000 metabolic tests each year and also provides ongoing amino acid monitoring of patients with aminoacidopathies.
Our research group has received grants totaling $2.5 million to investigate the genetics behind statin-induced myopathies.
Our division is part of UBMD Pediatrics, a member of UBMD Physicians' Group, the medical practice plan for the University at Buffalo. We see patients at the pediatric outpatient centers located in Amherst and Buffalo and provide consultations to inpatients at hospitals in the Buffalo metropolitan area and in the nearby regions of Pennsylvania.
We provide diagnostic, management and genetic counseling services to both children and adults.
Our physicians are board-certified by the American Board of Medical Genetics. They provide:
Our genetic counselors are board-certified by the American Board of Genetic Counselors. They provide:
Our division includes an Inherited Diseases Specialty Center, one of only eight designated as such by the New York State Department of Health, as well as a Krabbe disease screening unit.
1001 Main Street
Buffalo, NY 14203
Phone: (716) 323-0040
Fax: (716) 323-0292