News tagged with rare mutations
Jolie's mastectomy spotlights legal battle over genes
Movie star Angelina Jolie tested positive for a "faulty gene" at the center of a high-profile legal battle in the United States that challenges whether human genes can belong to a corporation.
Cancer
May 16, 2013 |
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First prospective trial shows molecular profiling timely for tailoring therapy
A clinical trial has shown that patients, and their physicians, are eager to jump into next-era cancer care—analysis of an individual's tumor to find and target genetic mutations that drive the cancer. Results of the study, ...
Cancer
May 15, 2013 |
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A cautionary tale on genome-sequencing diagnostics for rare diseases
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
Genetics
May 10, 2013 |
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Gene controls three different diseases
An international research consortium led by the Universitat Autònoma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending ...
Genetics
Apr 25, 2013 |
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Study suggests patients with lung cancer who carry specific HER2 mutations may benefit from certain anti-HER2 treatments
New results from a retrospective study conducted in Europe suggest that anti-HER2 treatments, like the widely used breast cancer agent trastuzumab (Herceptin), have anti-cancer effects in a small subset of patients with advanced ...
Cancer
Apr 22, 2013 |
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Researchers untangle molecular pathology of giant axonal neuropathy
Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation ...
Neuroscience
Apr 15, 2013 |
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Genomic screening to detect preventable rare diseases in healthy people
Experts from the UNC School of Medicine and the UNC Gillings School of Global Public Health propose that screening healthy adults for preventable diseases such as colorectal cancer, breast cancer, and several catastrophic ...
Genetics
Mar 06, 2013 |
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About 15 percent of patients with Wolfram syndrome do not meet current diagnostic criteria
Researchers at IDIBELL and CIBERER Virginia Nunes and Miguel López de Heredia have collected data from 400 patients with Wolfram syndrome published worldwide in the last fifteen years to better understand the natural history ...
Genetics
Feb 28, 2013 |
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Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome
Mutations which affect the gene ASXL3 cause a novel syndrome similar to Bohring-Opitz syndrome, finds a study published in BioMed Central's open access journal Genome Medicine. This molecular definition distinguishes these ...
Genetics
Feb 04, 2013 |
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Researchers identify genetic mutation for rare cancer
By looking at the entire DNA from this one patient's tumor, researchers have found a genetic anomaly that provides an important clue to improving how this cancer is diagnosed and treated.
Genetics
Jan 15, 2013 |
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Scientists identify genetic mutation behind rare disease
(Medical Xpress)—Researchers from Queen Mary, University of London, and Barts Health NHS Trust have identified the genetic mutation behind a devastating disease of the small intestine.
Genetics
Jan 04, 2013 |
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Scientists discover gene linked to breast and ovarian cancer
(Medical Xpress)—A team of researchers led by the Institute of Cancer Research, London, have found that rare mutations in a gene called PPM1D are linked to an increased risk of breast and ovarian cancer. The mutations are ...
Cancer
Dec 17, 2012 |
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Studies in mice confirm that mutations in the gene, UBE3B, cause a rare genetic disorder in children
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 ...
Genetics
Nov 29, 2012 |
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Rare genetic disorder points to molecules that may play role in schizophrenia
Scientists studying a rare genetic disorder have identified a molecular pathway that may play a role in schizophrenia, according to new research in the October 10 issue of The Journal of Neuroscience. The findings may on ...
Genetics
Oct 09, 2012 |
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Duplex-sequencing method could lead to better cancer detection and treatment
(Medical Xpress)—During an ice climbing trip to the Canadian Rockies last Christmas, two young researchers from the UW, Michael Schmitt and Jesse Salk, talked about a simple but powerful idea to get ...
Cancer
Oct 01, 2012 |
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