Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that ...
Feb 26, 2012
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(HealthDay) -- A second company reports that it has developed a prenatal blood test to detect Down syndrome, potentially providing yet another option for pregnant women who want to know whether their unborn child has the ...
Feb 23, 2012
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Children with Down syndrome (DS) have an increased risk of developing leukemia, in particular acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Through their studies in a mouse model of DS, a ...
Feb 22, 2012
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Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities ...
Feb 21, 2012
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UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called ...
Feb 6, 2012
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Anyone who has a close relative with Alzheimer's shares the same worry: Am I next? However, a growing body of research indicates that our lifestyles - particularly what we eat and whether we're obese - play a greater role ...
Jan 26, 2012
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Researchers have found a genetic variation predisposing children to six-times greater risk of developing metabolic syndrome when taking second-generation anti-psychotic medications. Metabolic syndrome is a cluster of conditions ...
Jan 24, 2012
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Researchers in Rhode Island Hospital's Cardiovascular Research Center have published two new studies focusing on the causes of arrhythmia and sudden cardiac death (SCD) when a genetic disorder is present. The studies use ...
Jan 17, 2012
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The main symptom of Rotor syndrome is jaundice caused by a buildup of a substance known as conjugated bilirubin. Bilirubin is a yellow substance generated in large quantities when the body recycles red blood cells. It is ...
Jan 9, 2012
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The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating ...
Jan 8, 2012
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