An interdisciplinary team of researchers under the direction of the University of Bonn Hospital have discovered a gene which is associated with a rare congenital anomaly of the urinary tract called classic bladder exstrophy. ...
Mar 12, 2015
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Although many people value receiving information about incidental findings identified from genomic sequencing, not everyone wants to know about genetic conditions regardless of potential health implications, found a study ...
Mar 9, 2015
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A worldwide study of the DNA of 100,000 women has discovered two new genetic variants associated with an increased risk of breast cancer.
Feb 4, 2015
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Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular ...
Jan 12, 2015
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The first results to emerge from a nationwide project to study the genetic causes of rare developmental disorders have revealed 12 causative genes that have never been identified before. The Deciphering Developmental Disorders ...
Dec 24, 2014
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The Irish arm of a new worldwide project which will dig deep into thousands of DNA profiles in order to discover the genetic causes of Motor Neurone Disease (MND) has been launched in Ireland by Professor Orla Hardiman's ...
Dec 4, 2014
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A new breakthrough could help kidney stone sufferers get an exact diagnosis and specific treatment after genetic links to the condition were identified.
Oct 29, 2014
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Scientists have pinpointed for the first time the genetic cause in some people of an incurable muscle-wasting disease, Emery-Dreifuss muscular dystrophy (EDMD).
Sep 11, 2014
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Researchers at Children's Hospital Los Angeles (CHLA) have developed a unique next-generation sequencing test for the gene linked to retinoblastoma. The new approach is both more comprehensive and can be conducted in less ...
Jun 3, 2014
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Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and this can directly ...
Jun 1, 2014
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