News tagged with rare mutations
Neuroscientists find that two rare autism-related disorders are caused by opposing malfunctions in the brain
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Neuroscience
Nov 24, 2011 |
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Common food supplement fights degenerative brain disorders
Widely available in pharmacies and health stores, phosphatidylserine is a natural food supplement produced from beef, oysters, and soy. Proven to improve cognition and slow memory loss, it's a popular treatment for older ...
Medical research
May 21, 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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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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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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Mutations in autism susceptibility gene increase risk in boys
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).
Autism spectrum disorders
Jul 12, 2012 |
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Mutations impair childhood growth and development by disrupting organization of chromosome pairs
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 ...
Genetics
May 29, 2012 |
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Whole genome sequencing of rare olfactory neuroblastoma
The Translational Genomics Research Institute (TGen) and the Virginia G. Piper Cancer Center at Scottsdale Healthcare have conducted whole genome sequencing (WGS) of a rare nasal tract cancer called olfactory neuroblastoma ...
Genetics
May 23, 2012 |
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Devastating disease provides insight into development and death of motor neurons
Researchers at UCLA have been searching for the cause of a rare disease that virtually no one has ever heard: PCH1, or pontocerebellar hypoplasia type 1, which attacks the brain and the spine.
Genetics
Apr 30, 2012 |
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First gene linked to common form of psoriasis identified
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.
Genetics
Apr 19, 2012 |
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