BUFFALO, N.Y. (Friday, May 14, 2004) – Georgirene D. Vladutiu, Ph.D., director of The Robert Guthrie Biochemical Genetics Laboratory at the Women’s and Children’s Hospital of Buffalo, a Kaleida Health facility, has been awarded several grants totaling $674,000.

The grants will be used to improve the diagnosis of metabolic muscle diseases in children and adults, and to establish an interdisciplinary center for research in metabolic muscle diseases. The research center will include investigators from the University at Buffalo’s School of Medicine and Biomedical Sciences, UB’s School of Public Health, and several other centers around the United States and Canada.

The largest award is a three-year grant from the John R. Oishei Foundation.

“This grant will support both current and prospective studies of individuals at increased risk for developing muscle diseases,” said Dr. Vladutiu, a professor of pediatrics, neurology, and pathology at the University at Buffalo. “Research will focus on improving the diagnosis of these disorders through biochemical and genetic testing before exposure to certain risk factors that may trigger symptoms.”

The John R. Oishei Foundation’s mission is to enhance the quality of life for Buffalo area residents by supporting education, healthcare, scientific research and cultural, social, civic and other charitable needs of the community. The Foundation was established in 1940 by John R. Oishei, founder of Trico Products Corporation, one of the world’s leading manufacturers of windshield wiper systems.

Dr. Vladutiu, who lives in Amherst, has worked at Children's Hospital for 31 years. The Robert Guthrie Biochemical Genetics Laboratory has one of the largest volumes of lab tests in the United States for the diagnosis of metabolic muscle diseases, receiving over 700 muscle biopsies per year.

A three-year grant from the Muscular Dystrophy Association will specifically support the study of individuals who develop muscle symptoms and potentially life-threatening injury after treatment with cholesterol-lowering drugs known as statins.

Of thirty-six million people taking cholesterol-lowering drugs in the U.S., 5-6% develop symptoms such as muscle pain and weakness related to statin use. Approximately, 0.2% of these individuals, (about 72,000), develop severe muscle symptoms that may be life threatening. Dr. Vladutiu and colleagues will test the hypothesis that many of the severely affected individuals have underlying inherited muscle diseases that do not manifest until triggered by statins.

A grant from the University at Buffalo’s Interdisciplinary Research and Creative Activities Fund (IRCAF) has provided funds for the purchase of an instrument critical to the evaluation of genetic variation associated with metabolic muscle disease. The studies made possible by this grant will lead to further analyses of gene expression as candidate genes are found that have a role in muscle disease processes.

Additional research projects underway or planned include: studies of genetic susceptibility markers in the Gulf War syndrome; exercise intolerance in high risk groups including athletes and armed services personnel; and individuals with chronic fatigue syndrome or multiple sclerosis.

Dr. Vladutiu’s diagnostic laboratory was supported during 2003-04 by both Kaleida Health and the Children’s Guild of Buffalo to obtain equipment needed to expand diagnostic testing for inborn errors of metabolism. A new amino acid analyzer will provide state of the art testing for aminoacidopathies in patients cared for at Kaleida Health and two spectrophotometers have been added to increase testing turn around time. Additional research and clinical staff has been added to the laboratory to keep pace with both advances in muscle disease research and diagnostic testing.

Dr. Vladutiu is in the Division of Genetics of the Dept. of Pediatrics. Dr. Richard Erbe is Chief of the Genetics Division which provides a broad spectrum of genetic services including diagnosis, counseling, and medical nutrition therapy for individuals with selected hereditary disorders.