Novel test streamlines testing for Huntington Disease
A new test may help to streamline genetic testing for Huntington Disease (HD) by generating accurate results, avoiding unnecessary additional testing, and improving turnaround time. The test, which uses chimeric or triplet ...
Genetics
Feb 13, 2013 |
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Kidney disease mutations found in a genomic blind spot
(Medical Xpress)—Advances in DNA sequencing technology during the past decade have given scientists powerful tools to peer into the genomes of humans and other species. Despite the efficiency and sophistication ...
Genetics
Feb 11, 2013 |
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Calcium-binding protein mutations found in heart rhythm disorders
A team led by Vanderbilt University investigators has discovered two new genes – both coding for the signaling protein calmodulin – associated with severe early-onset disorders of heart rhythm. The findings, reported ...
Cardiology
Feb 06, 2013 |
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Scientists investigate inherited causes of autism
Autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric conditions. Yet, most genetic links to ASD found in recent years have involved de novo mutations, which are not passed from parent to child, ...
Genetics
Feb 04, 2013 |
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Autism speaks through gene expression
Autism spectrum disorders affect nearly 1 in 88 children, with symptoms ranging from mild personality traits to severe intellectual disability and seizures. Understanding the altered genetic pathways is critical for diagnosis ...
Genetics
Feb 01, 2013 |
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New stroke gene discovery could lead to tailored treatments
An international study led by King's College London has identified a new genetic variant associated with stroke. By exploring the genetic variants linked with blood clotting – a process that can lead to a stroke – scientists ...
Neuroscience
Feb 01, 2013 |
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Team discovers potential blood test for autistic patients
(Medical Xpress)—Results of a recent clinical study by researchers from Western and the University of Arkansas reveal the presence of a unique blood marker, which may further the understanding of possible gut linked environmental ...
Autism spectrum disorders
Jan 29, 2013 |
3.7 / 5 (3) |
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Drug approved for inherited blood disorder
(HealthDay)—Exjade (deferasirox) has been approved by the U.S. Food and Drug Administration to remove excess iron in the blood among people with a genetic blood disorder called non-transfusion-dependent thalassemia (NTDT).
Medications
Jan 24, 2013 |
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A scanner for hereditary defects
Our genetic material is constantly exposed to damage, which the body's own proteins normally repair. One of these proteins works like a scanner, continually scouring the genetic material for signs of damage. ...
Genetics
Jan 24, 2013 |
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Researchers uncover gene's role in rheumatoid arthritis, findings pave way for new treatments
University of Michigan research sheds new light on why certain people are more likely to suffer from rheumatoid arthritis – paving the way to explore new treatments for both arthritis and other autoimmune diseases.
Arthritis & Rheumatism
Jan 24, 2013 |
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Whole-exome sequencing identifies inherited mutations in autism
While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...
Autism spectrum disorders
Jan 23, 2013 |
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Less tau reduces seizures and sudden death in severe epilepsy
Deleting or reducing expression of a gene that carries the code for tau, a protein associated with Alzheimer's disease, can prevent seizures in a severe type of epilepsy linked to sudden death, said researchers at Baylor ...
Neuroscience
Jan 22, 2013 |
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Scientists find gene interactions that make cocaine abuse death eight times more likely
Scientists have identified genetic circumstances under which common mutations on two genes interact in the presence of cocaine to produce a nearly eight-fold increased risk of death as a result of abusing the drug.
Genetics
Jan 22, 2013 |
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Genes and their regulatory 'tags' conspire to promote rheumatoid arthritis, study finds
In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic ...
Genetics
Jan 20, 2013 |
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Possible role for Huntington's gene discovered
About 20 years ago, scientists discovered the gene that causes Huntington's disease, a fatal neurodegenerative disorder that affects about 30,000 Americans. The mutant form of the gene has many extra DNA ...
Genetics
Jan 16, 2013 |
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