Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this ...
Nov 29, 2012
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Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Jul 12, 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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Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.
Apr 19, 2012
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Further work carried out on mice suggests that this gene plays a part in motor network cross-over. Cross-over is a key factor in the transmission of brain signals, because it allows the right side of the brain to control ...
Feb 17, 2012
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An innovative approach to genome screening has provided clues about rare mutations that may make people susceptible to brain aneurysms, predisposing them to brain bleeds, according to preliminary late-breaking research presented ...
Feb 3, 2012
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Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...
Dec 15, 2011
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Cancer researchers studying genetic mutations that cause leukemia have discovered a connection to the rare disease cherubism, an inherited facial bone disorder in children.
Dec 8, 2011
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Fanconi anemia is a rare genetic disease characterized by hematologic symptoms that include low platelet count and unusually large red blood cells. Mutations in nearly 20 genes have been identified as causative for Fanconi ...
Jul 10, 2017
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Researchers in Malaysia have analysed the genomes of people with a rare genetic disorder to better understand their predisposition to cancer across generations.
May 27, 2015
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