Inflammation -- not genetic susceptibility -- drives the growth of intestinal bacteria and invasive E. coli linked to Crohn's disease (CD), reports a new Cornell study.
Aug 16, 2012
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A pilot study in adolescents and adults has found that an investigational drug shows promise as the first potential medical treatment for children with the severest type of congenital hyperinsulinism, a rare but potentially ...
Aug 1, 2012
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Research published Aug. 1 by scientists at Cold Spring Harbor Laboratory (CSHL) links gene mutations found in some patients with Meier-Gorlin syndrome (MGS) with specific cellular dysfunctions that are thought to give rise ...
Jul 31, 2012
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A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists.
Jul 5, 2012
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Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital ...
Jun 26, 2012
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The use of genome-wide array analysis in parents whose children are suspected of having a genetic disease shows that the parents frequently also have previously undetected genetic abnormalities, a researcher from The Netherlands ...
Jun 24, 2012
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Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a ...
May 29, 2012
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A pill designed to zero in on abnormal genes that drive specific cancers has produced encouraging early results in children with an uncommon but aggressive type of lymphoma, as well as in children with a rare form of neuroblastoma.
May 17, 2012
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Scientists at Cold Spring Harbor Laboratory (CSHL) and Memorial Sloan-Kettering Cancer Center have amassed strong experimental evidence implying that commonly occurring large chromosomal deletions that are seen in many cancer ...
May 7, 2012
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Researchers at Seattle Children's Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the child to breathe ...
May 3, 2012
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