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Media Contact: Holly Korschun 05 May 2006
  hkorsch@emory.edu    
  (404) 727-3990   Print  | Email ]
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Emory Leads National Effort to Improve Nutritional Support for Metabolic Diseases
For children and adults with inherited metabolic disorders, even a tiny amount of the wrong foods can trigger a harmful reaction with serious long-term consequences, including irreversible brain damage. As Georgia Governor Sonny Perdue signed into law a bill expanding newborn screening in the state last week, Genetic Metabolic Dietitians International (GMDI), a new professional association for healthcare providers of nutritional management for metabolic diseases, held its first conference in Atlanta.

The need for enhanced nutritional oversight for inherited diseases was underscored by the new state law expanding the number of standard newborn screening tests from 10 inherited conditions to more than 54 conditions. These are inherited metabolic abnormalities that require significant nutritional intervention. Rani H. Singh, PhD, RD, LD, assistant professor of human genetics at Emory University School of Medicine and director of Emory's Genetic Metabolic Nutrition Program, led a pilot project to identify the training gaps and education needs and priorities of dietitians working in the field of inborn errors of metabolism. These dietitians are involved in the nutritional management of patients identified through the state screening programs in the Southeast region, with grant funding from the Health Resources and Services Administration (HRSA).

Just two years ago, Dr. Singh brought together an expert group of genetic metabolic dietitians with the vision of forming an organization to help fill these needs. "Nutritional control is a life or death matter for children and adults with metabolic disorders and for their potential offspring," says Dr. Singh. "Nutritionists will be involved in the majority of these inherited conditions, and this new professional organization will have a significant impact on the ability of metabolic dietitians to better serve their patients."

The GMDI's first conference was attended by metabolic dietitians and other health care practitioners interested in the management of patients with genetic metabolic disorders.

In 1962, geneticists began screening newborns for a few metabolic disorders, which affect the way the body processes food into energy. Emory University has partnered with Georgia's screening program to offer follow up and treatment to all children with inherited metabolic conditions and serves as the reference lab for confirming diagnosis of newborn screening tests statewide. Each year geneticists, nutritionists and genetic counselors at Emory are responsible for the follow-up of nearly 5,000 abnormal newborn screening tests and the treatment of over 250 children and adults with metabolic disorders.

"State genetics screening programs are a clear illustration of the benefits of predictive medicine," Dr. Singh emphasizes. "The Emory-Georgia Tech Predictive Health Initiative is focused on improving health from birth throughout life. Similarly, these newborn children can have their lives saved or significantly improved when we put our genetics and nutrition knowledge to work in newborn screening."

Emory's Genetics Metabolic Clinic serves children and adults with diagnosed metabolic conditions such as phenylketonuria (PKU), galactosemia, and maple syrup urine disease (MSUD). Each year since 1995, Emory's genetics faculty and staff have conducted a one-week summer camp on the Emory University campus for young women, ages 12 and up.

For additional information about GMDI, visit http://www.gmdi.org or email rborlaza@genetics.emory.edu. For more information about the 2006 Metabolic Camp, visit http://www.genetics.emory.edu/metcamp/. For more information about the Department of Human Genetics at Emory University School of Medicine, visit http://www.genetics.emory.edu. ###



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