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Familial Hypercholesterolaemia patients often inherit small-effect changes in several genes rather than a large-effect mutation in a single gene

Research published Online First in The Lancet provides new evidence that a substantial proportion of individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH) inherit a combination of small-effect changes in several genes (polygenic) rather than a large-effect mutation in a single gene (monogenic).

22 Feb 2013

AMD risk alleles fail to predict treatment response

The major risk alleles that influence the development of age-related macular degeneration do not predict response to therapy for the condition, a substudy of the CATT trial indicates.

20 Feb 2013

Study determines frequency of genetic variants linked to alcoholism for Spanish population

Research done at the UPV/EHU-University of the Basque Country has determined the frequency of genetic variants linked to alcoholism for the Spanish population, and its incidence not only in individuals with a high level of alcohol intake, but also in individuals with alcohol dependence.

20 Feb 2013

TP PCR methodology may help streamline genetic testing for Huntington's

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.

14 Feb 2013

Lipid associated variant linked to aortic stenosis, valve disorders

People who carry a lipoprotein(a) gene variant are at increased risk for aortic valve calcification and aortic stenosis, suggest study findings.

11 Feb 2013

LPA genetic variant increases risk of heart valve calcification

Researchers have found a genetic variant that doubles the likelihood that people will have calcium deposits on their aortic valve. Such calcification, if it becomes severe, can cause narrowing or a blockage of the aortic valve, a condition called aortic stenosis.

9 Feb 2013

Researchers identify an exceptional mouse model of schizophrenia

Researchers at the Institute for Comprehensive Medical Science, Fujita Health University and the National Institute for Physiological Sciences, Japan, along with colleagues from 9 other institutions, have identified an exceptional mouse model of schizophrenia.

7 Feb 2013

Non-coding RNA MALAT1 influences lung cancer metastasis

The vast majority - approximately 80 percent - of our DNA does not code for proteins, yet it gets transcribed into RNA. These RNA molecules are called non-coding and fulfill multiple tasks in the cell. Alongside a well-studied group of small RNAs, there is also a class of so-called long non-coding RNAs consisting of more than 200 nucleotides.

6 Feb 2013

Gilead Sciences fourth quarter total revenues increase 18% to $2.59 billion

Gilead Sciences, Inc. announced today its results of operations for the fourth quarter and full year 2012.

5 Feb 2013

Topline results from Gilead’s FISSION and NEUTRINO Phase 3 studies on HCV infection

Gilead Sciences today announced topline results from two Phase 3 studies, FISSION and NEUTRINO, evaluating a 12-week course of the once-daily nucleotide sofosbuvir in combination with ribavirin (FISSION) and in combination with ribavirin and pegylated interferon (NEUTRINO) among treatment-naïve patients with chronic hepatitis C virus (HCV) infection.

5 Feb 2013

Hope against dangerous form of acute lymphoblastic leukemia

After an intensive three-year hunt through the genome, medical researchers have pinpointed mutations that leads to drug resistance and relapse in the most common type of childhood cancer-the first time anyone has linked the disease's reemergence to specific genetic anomalies.

4 Feb 2013

Study expands and deepens biological and genetic links between CVD and schizophrenia

A new study, to be published in the Feb. 7, 2013 issue of the American Journal of Human Genetics, expands and deepens the biological and genetic links between cardiovascular disease and schizophrenia. Cardiovascular disease (CVD) is the leading cause of premature death among schizophrenia patients, who die from heart and blood vessel disorders at a rate double that of persons without the mental disorder.

1 Feb 2013

Gene variant boosts ulcer susceptibility in NSAID users

A single nucleotide polymorphism in the cytochrome P450 2C gene cluster influences the risk for peptic ulcer disease in people taking non-steroidal anti-inflammatory drugs, a study reveals.

31 Jan 2013

Non-coding RNA essential for normal embryonic cardiogenesis

Many different tissues and organs form from pluripotent stem cells during embryonic development. To date it had been known that these processes are controlled by transcription factors for specific tissues. Scientists from the Max Planck Institute for Molecular Genetics in Berlin, in collaboration with colleagues at MIT and the Broad Institute in Boston, have now been able to demonstrate that RNA molecules, which do not act as templates for protein synthesis, participate in these processes as well.

30 Jan 2013

ParseCNV software can detect disease-causing copy number variations

A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software.

22 Jan 2013

Studies suggest a new approach to treating HIV

A team of researchers based at Johns Hopkins has decoded a system that makes certain types of immune cells impervious to HIV infection.

22 Jan 2013

Winning the genetic body odor lottery could save on deodorant

Research shows that people who have two copies of the minor allele of a single nucleotide polymorphism found in the ABCC11 gene could save money on deodorant as they are genetically odorless.

21 Jan 2013

Susceptibility genes for bovine digital dermatitis found

Researchers have identified genetic variants that influence susceptibility to bovine digital dermatitis, an infectious condition that causes lameness of the hindfoot.

9 Jan 2013

Researchers identify four new genetic regions associated with Behcet's disease

Researchers have identified four new regions on the human genome associated with Behcet's disease, a painful and potentially dangerous condition found predominantly in people with ancestors along the Silk Road.

7 Jan 2013

PSCA gene’s rs2294008 variant on T nucleotide may increase risk of bladder cancer

Patients who have inherited a specific common genetic variant develop bladder cancer tumors that strongly express a protein known as prostate stem cell antigen (PSCA), which is also expressed in many pancreatic and prostate tumors, according to research at the National Institutes of Health.

4 Jan 2013