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Latest Inborn error of metabolism Stories

2013-09-24 12:28:16

FDA allows novel approach to study children with inborn errors of energy metabolism MOUNTAIN VIEW, Calif., Sept. 24, 2013 /PRNewswire/ -- Edison Pharmaceuticals announced today initiation of a phase 2 clinical trial titled "Therapeutic Trial of EPI-743 in Patients with Disorders of Energy Utilization or Oxidation-Reduction." The trial is a double-blind, placebo-controlled crossover study in which subjects will receive either EPI-743 treatment or placebo for six months. They will...

2013-07-03 23:17:32

In light of recent research developing a test to screen for Inborn Errors of Metabolism disorders, Kwiksure examines if genetic screening tests could be covered by insurers. Hong Kong (PRWEB) July 03, 2013 According to the Chinese University of Hong Kong (CUHK), one out of 4000 babies born in Hong Kong will be diagnosed with Inborn Errors of Metabolism (IEM). These metabolic disorders can lead to several health defects but recent research has developed a genetic screening test to detect...

2012-05-31 06:28:42

NIJMEGEN, Netherlands, May 31, 2012 /PRNewswire/ -- A multi-million euro Marie Curie grant has been awarded to an international consortium including 8 world-leading basic science and clinical centres of excellence, industry leaders Khondrion and Seahorse Bioscience, and a non-profit foundation. The objective of the program titled Mitochondrial European Educational Training (MEET) is to implement training-through-research programs dedicated to unravelling the pathophysiology of mitochondria...

2012-02-29 07:00:00

SAN DIEGO, Feb. 29, 2012 /PRNewswire/ -- Amylin Pharmaceuticals, Inc. (Nasdaq: AMLN) today announced that it is participating in the fifth annual international Rare Disease Day to demonstrate the Company's support for patients and families who are impacted by rare diseases. Celebrated around the world today, Rare Disease Day aims to raise awareness of the more than 7,000 known rare diseases and the effects of these diseases on patients' lives, and to provide a platform of unity for...

2012-01-17 14:39:00

--The Children's Hospital of Philadelphia Will Create Long-Term Clinical Data Resource for Medical Researchers -- PHILADELPHIA, Jan. 17, 2012 /PRNewswire-USNewswire/ -- Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in...

2012-01-09 11:29:34

A team of scientists, led by researchers at the University of California, San Diego School of Medicine and Zacharon Pharmaceuticals, have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders that are currently diagnosed in patients only after symptoms have become serious and the damage possibly irreversible. The findings will be published online January 8 in the journal Nature Chemical Biology. MPS is...

2011-11-16 22:17:43

Scientists have developed a rapid method that can be used to simultaneously screen patients for a range of genetic and acquired clinical conditions from a single dried blood spot Scientists have developed a rapid method that can be used to simultaneously screen patients for a range of genetic and acquired clinical conditions from a single dried blood spot. The test uses a highly sensitive and specific technique, known as mass spectrometry, to simultaneously analyze proteins, enzymes and...

2011-08-18 13:16:26

Exposing eggs to high levels of saturated fatty acids "“ as commonly found in the ovaries of obese women and those with Type II diabetes "“ compromises the development of the embryo, according to new research published in PLoS ONE. The study "“ by researchers from Antwerp, Hull, and Madrid "“ found that embryos resulting from cattle eggs exposed to high levels of fatty acids had fewer cells, altered gene expression and altered metabolic activity, all indicators of...

2011-06-16 09:42:00

OMAHA, Neb., June 16, 2011 /PRNewswire/ -- Transgenomic, Inc. (OTC/BB: TBIO) today announced the launch of the Nuclear Mitome Test, a genetic test to aid physicians in the diagnosis of mitochondrial disorders. The Nuclear Mitome Test, employs next-generation sequencing technology to identify mutations in more than 400 genes, and represents the most comprehensive genetic test available for mitochondrial disorders. The announcement was made at the 2011 United Mitochondrial Disease Foundation...

2011-05-19 10:26:00

--Children's Hospital of Philadelphia Study May Point to Much-Needed Drug Therapy for Elusive Metabolic Disorders -- PHILADELPHIA, May 19, 2011 /PRNewswire-USNewswire/ -- A human drug that both prevents and cures kidney failure in mice sheds light on disabling human mitochondrial disorders, and may represent a potential treatment in people with such illnesses. "There are no effective cures for mitochondrial diseases, even in animals," said study leader Marni J. Falk, M.D., who cares for...