Source Newsroom: Malignant Hyperthermia Association of the United States (MHAUS)
Newswise — SHERBURNE, N.Y. (January, 29, 2013) Malignant Hyperthermia Association of the United States welcomes Georgirene Vladutiu Ph.D. of State University of New York at Buffalo to the MHAUS Board of Directors.
Dr. Vladutiu is Professor of Pediatrics, Neurology and Pathology & Anatomical Sciences at the State University of New York at Buffalo where she is the Director of the Robert Guthrie Biochemical & Molecular Genetics Laboratory at the Buffalo General Medical Center . Dr. Vladutiu earned her Ph.D. at the University at Buffalo and is Board-certified in Clinical Biochemical Genetics. In her role as director of the Guthrie lab she is responsible for oversight of the performance of over 5,000 specialized tests to determine inborn errors of metabolism each year.
Among her many honors and awards, she was elected President of the Society for Inherited Metabolic Disorders in 2009 and received an Exceptional Scholar-Sustained Achievement Award from the University at Buffalo in 2011.
Dr. Vladutiu has utilized genetic analysis to assist in the diagnosis of inherited disorders of muscle metabolism, and for the past ten years has focused her research on muscle problems related to the use of lipid lowering drugs, i.e., “statins”. Using state-of-the-art genetic analysis, she and her colleagues are developing a cost effective screening tool to identify individuals at high risk for heritable muscle disorders. Her research has been supported through grants from the National Institutes of Healthand her findings regularly appear in a variety of well-known medical journals such as the Journal of Pediatrics, Molecular Genetics and Metabolism, Muscle & Nerve among others.
Through her research and interest in muscle disorders she noted a connection in some disorders to the genetic changes in malignant hyperthermia. For example, in examining the genetic profiles of patients with severe statin-induced muscle problems she noted that several patients harbored genetic changes typical of those found in MH. She presented these findings at the MHAUS Scientific meeting in Pittsburgh in 2010 and has published the results in the journal, Molecular Genetics & Metabolism. In addition, she has begun collaboration with Dr. Barbara Brandom, Director of the North American MH Registry of MHAUS, Dr. Sheila Muldoonand Dr. Khishge Sambuughin at Uniformed Services University of the Health Sciences, as well as others investigating the genetics and biochemistry of MH.
She contributes extensively to the discussions about MH with our hotline consultants on the Internet-based discussion list maintained for hotline consultants.
As molecular genetic techniques are continually revealing connections between MH and a wide variety of other disorders, her expertise will be invaluable in guiding MHAUS in furthering the mission of improving patient care for MH-susceptible people and preventing death and disability related to MH.
About Malignant Hyperthermia:
MH is an autosomal dominant genetic disorder found in an estimated 1 out of 2,000 people. Once triggered, the rapid progressive series of chain events include a body temperature of up to 107 degrees, muscle rigidity, system-wide organ failure, and, if untreated, eventual death. MH is often experienced in individuals undergoing, what was expected to be, routine surgery.
The incidence of MH is low, but, if untreated, the mortality rate is high. Introduction of a treatment drug and advances in the understanding of MH have saved many lives since the syndrome was first described in the 1960s.
About the Malignant Hyperthermia Association of the United States (MHAUS):
Founded in 1981 MHAUS is the only organization in North America dedicated to promoting optimum care and scientific understanding of MH and related disorders by encouraging healthcare professionals and patients and families to prepare for MH through educational materials and testing and through the 24-hour MH Hotline that provides healthcare professionals with access to experts that specialize in MH crisis treatment. http://mhaus.org
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