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Discovered Gene Causes Kabuki Syndrome: Researchers Streamline DNA Sequencing Strategies to Find Rare Disease Genes Quickly
August 15, 2010 — Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple ... > full story -
Scientists Identify New Drug Strategy Against Fragile X Syndrome
August 10, 2010 — Researchers have identified a potential new strategy for treating fragile X syndrome -- the most common inherited cause of intellectual disability. They have found that a class of drugs called ... > full story -
Malfunction of a Protein Has Been Linked to Form of Mental Retardation That Affects One in 500 Males
August 3, 2010 — Malfunction of a protein has been linked to a form of mental retardation that affects up to one out of every 500 males, according to new ... > full story -
Researchers Find New Translocation; Weak Spots in DNA Lead to Genetic Disease
July 29, 2010 — Pediatric researchers continue to discover recurrent translocations -- places in which two chromosomes exchange pieces of themselves, and can lead to genetic disease and disability. Originating in ... > full story -
New Epigenetic Player Implicated in Mental Retardation and Facial Birth Defects
July 12, 2010 — A subtle mutation affecting the epigenome --- a set of dynamic factors that influence gene activity -- may lead to an inherited form of mental retardation that affects boys, researchers have found ... > full story -
Early Predictors of Metabolic Syndrome in Healthy 7-9 Year-Olds Identified
July 12, 2010 — New research finds evidence supporting relationships seen in adolescents between insulin sensitivity and fatty liver, belly fat, and total body fat and identifies additional potential early markers ... > full story -
Maternal Diet and Genes Interact to Affect Heart Development
July 6, 2010 — A pregnant mother's diet may be able to interact with the genes her unborn child inherits and influence the type or severity of birth defect, according to new research. The study suggests that ... > full story -
Chromosomal Abnormality Found for Inherited Clubfoot
July 1, 2010 — Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers have found what they believe to be the most common cause of inherited ... > full story -
Cheap, Simple, Noninvasive Blood Test May Replace Invasive Diagnostic Techniques in Early Pregnancy
June 29, 2010 — Researchers in the Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing fetus. At ... > full story -
Birth Defects
Infant's Health
Pharmacology
Pregnancy and Childbirth
Diseases and Conditions
Public Health
Danish Children at Risk from Psychotropic Medicines, Study Finds
June 22, 2010 — Between 1998 and 2007, psychotropic medications were associated with 429 adverse drug reactions in children under 17 in Denmark. Researchers found that more than half of these were serious and ... > full story
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