Improving knowledge of Schaaf-Yang syndrome (SYS), an ultra-rare disease caused by mutations in the MAGEL2 gene, is the aim of the first clinical guideline aimed at health care professionals and families of children affected ...
Oct 26, 2022
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Chromosomal abnormalities linked to intellectual disability can be traced back to the father, particularly those who are older when the child is conceived, finds research published online in the Journal of Medical Genetics.
Oct 3, 2011
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Fainting has a strong genetic predisposition, according to new research published in the August 7, 2012, print issue of Neurology, the medical journal of the American Academy of Neurology. Fainting, also called vasovagal ...
Aug 6, 2012
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People with blue eyes might have a greater chance of becoming alcoholics, according to a unique new study by genetic researchers at the University of Vermont.
Jul 2, 2015
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University of Texas Medical Branch at Galveston researchers have developed a powerful visual analytical approach to explore genetic data, enabling scientists to identify novel patterns of information that could be crucial ...
Jun 12, 2012
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New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from ...
Nov 27, 2012
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Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor. The validation ...
Jul 2, 2012
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A study led by the Translational Genomics Research Institute (TGen) has for the first time matched dozens of infantile diseases and syndromes involving muscle weakness and stiff joints to their likely genetic origins.
May 13, 2015
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The importance of accurate prenatal diagnosis in preventing birth abnormalities cannot be overstated. Traditional karyotyping (a test to examine chromosomes in a sample of cells) dates back to the late 1960s and is well-established, ...
Oct 26, 2023
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The Fundación Mutua Madrileña, in its 10th Call for Aids to Research, has selected a project to improve the diagnosis of Lynch syndrome led by researcher Marta Pineda, from the Hereditary Cancer research group of the Bellvitge ...
Jun 25, 2013
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