Scientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into ...
Genetics
Feb 26, 2012 |
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Australia-led study in epilepsy breakthrough
An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.
Genetics
Apr 02, 2013 |
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Two new genetic mutations associated with Cowden syndrome
Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the American Journal of ...
Genetics
Dec 13, 2012 |
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Whole genome sequencing of de novo balanced rearrangements in prenatal diagnosis
Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics ...
Genetics
Nov 07, 2012 |
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Pre-test genetic counseling increases cancer knowledge for BRCA patients
(Medical Xpress) -- Researchers at Moffitt Cancer Center have found that when breast cancer patients are offered pre-test genetic counseling before definitive breast cancer surgery, patients exhibited decreases in distress. ...
Cancer
Aug 15, 2012 |
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Gene responsible for three forms of childhood neurodegenerative diseases found
A Montreal-led international team has identified the mutated gene responsible for three forms of leukodystrophies, a group of childhood-onset neurodegenerative disorders. Mutations in this gene were identified in individuals ...
Genetics
Sep 12, 2011 |
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Researchers probe genetic link to blindness
University of Leeds researchers have used next-generation DNA sequencing techniques to discover what causes a rare form of inherited eye disorders, including cataracts and glaucoma, in young children.
Ophthalmology
Sep 08, 2011 |
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New technology helps to find gene responsible for Kufs disease
Scientists from the Walter and Eliza Hall Institute and the University of Melbourne have used innovative new technologies to identify the gene responsible for a rare but fatal hereditary brain disorder. The ...
Genetics
May 05, 2011 |
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USPSTF: BRCA testing for women with family history
(HealthDay)—The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of having BRC ...
Cancer
Apr 02, 2013 |
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Genetic risk strategies needed for young, black, female breast cancer patients, study shows
Researchers at Moffitt Cancer Center and colleagues in Canada have published study results focused on black women younger than 50, a population disproportionately afflicted with and dying from early-onset breast cancer compared ...
Cancer
Mar 21, 2013 |
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An embryo that is neither male nor female
So, is it a girl or a boy? This is the first question parents ask at the birth of an infant. Though the answer is obvious, the mechanism of sex determination is much less so. Researchers at the University of Geneva (UNIGE) ...
Genetics
Jan 03, 2013 |
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Research helps unlock gene secrets of autosomal dominant nocturnal frontal lobe epilepsy
In a national research partnership, Dr Sarah Heron from the University of South Australia's Sansom Research Institute, epilepsy research group, has been working to map the genes responsible for a rare form ...
Genetics
Oct 22, 2012 |
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Parents of babies with sickle cell trait are less likely to receive genetic counseling, study says
Parents of newborns with the sickle cell anemia trait were less likely to receive genetic counseling than parents whose babies are cystic fibrosis carriers, a new study from the University of Michigan shows.
Genetics
Sep 11, 2012 |
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Genetic counseling doesn't affect pre-diabetes behavior
(HealthDay)—Receiving genetic risk counseling does not significantly alter self-reported motivation or prevention program adherence for overweight individuals at risk for type 2 diabetes, according to a ...
Diabetes
Sep 07, 2012 |
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Study participants at risk for Alzheimer's talk about their genetic test results
If you had a family history of developing Alzheimer's disease, would you take a genetic test that would give you more information about your chances?
Diseases, Conditions, Syndromes
Dec 12, 2011 |
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