Chief Research Officer at Childrens National, Awarded NIH grant in Genetic Disease Outcomes Study - WLTZ 38 | Columbus Georgia Regional News & Community

Chief Research Officer at Childrens National, Awarded NIH grant in Genetic Disease Outcomes Study

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Mendel Tuchman, MD, Chief Research Officer, Childrens Research Institute at Childrens National Health System, leads a team that was awarded a $650,000 grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development to determine whether an amino acid-like-chemical can be used to improve the clinical outcome of genetic diseases characterized by elevated levels of ammonia in the blood, such as hyperammonemia.

Washington, DC (PRWEB) July 08, 2014

Mendel Tuchman, MD, Chief Research Officer, Childrens Research Institute at Childrens National Health System, leads a team that was awarded a $650,000 grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development to determine whether an amino acid-like-chemical can be used to improve the clinical outcome of genetic diseases characterized by elevated levels of ammonia in the blood, such as hyperammonemia.

Hyperammonemia is a metabolic condition that can cause severe brain damage, developmental disabilities, or be fatal. A chemical N-carbamylglutamate (NCG), similar to a small molecule in the liver, known as N-acetylglutamate (NAG), may be able to keep blood ammonia levels below toxic.

Tuchman and his team have found preliminary evidence that NCG can also reduce the blood ammonia levels in patients with a number of inherited metabolic diseases. Unlike NAG, NCG is not broken down in the body and can mimic the effect of NAG to decrease ammonia levels in patients with a number of inherited metabolic diseases, Tuchman wrote. The drug Carbaglu (carglumic acid) is used to treat chronic and acute hyperammonemia due to NAG deficiency and was approved by the Food and Drug Administration in March 2010.

The study project will investigate whether Carbaglu can reduce ammonia levels in patients with four different genetic diseases associated with high ammonia levels, Tuchman wrote.

If the results confirm our hypothesis, Tuchman added, patients could be treated with Carbaglu to keep their ammonia level at normal or close to normal levels, protecting them from brain damage.
Prior to this study, Tuchman and colleagues have used Carbaglu for several patients with hyperammonemia, whose ammonia concentration declined rapidly after using the drug. The treatment of these patients reduced the need for frequent hospitalizations for hyperammonemia.

Dr. Tuchman holds the Mary Elizabeth McGehee Joyce Chair in Genetics Research at Childrens. He conducts translational research in biochemistry and molecular biology of nitrogen metabolism and inborn errors of metabolism. His work is supported by grants from the National Institutes of Health and he has published approximately 180 peer-reviewed articles.

Contact: Emily Hartman or Joe Cantlupe at 202-476-4500.

About Childrens National Health System
Childrens National Health System, based in Washington, DC, has been serving the nations children since 1870. Childrens Nationals hospital is Magnet® designated, and is consistently ranked among the top pediatric hospitals by U.S. News & World Report. Home to the Childrens Research Institute and the Sheikh Zayed Institute for Pediatric Surgical Innovation, Childrens National is one of the nations top NIH-funded pediatric institutions. With a community-based pediatric network, eight regional outpatient centers, an ambulatory surgery center, two emergency rooms, an acute care hospital, and collaborations throughout the region, Childrens National is recognized for its expertise and innovation in pediatric care and as an advocate for all children. For more information, visit ChildrensNational.org, or follow us on Facebook and Twitter.

For the original version on PRWeb visit: http://www.prweb.com/releases/2014/07/prweb12001145.htm

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