Single Nucleotide Polymorphism News and Research

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New research shows schizophrenia comprises 8 genetically distinct disorders

New research shows that schizophrenia isn't a single disease but a group of eight genetically distinct disorders, each with its own set of symptoms. The finding could be a first step toward improved diagnosis and treatment for the debilitating psychiatric illness.

16 Sep 2014

Researchers reveal how alteration of single nucleotide could initiate fragile X syndrome

Researchers reveal how the alteration of a single nucleotide—the basic building block of DNA—could initiate fragile X syndrome, the most common inherited form of intellectual disability. The study appears in The Journal of Cell Biology.

2 Sep 2014

Schizophrenia-linked genetic variations and the developing brain: an interview with Prof. Guo-li Ming

How much is currently known about what happens in the developing brain that puts people at risk of schizophrenia?

11 Aug 2014

PLXNA4 gene may increase risk of developing Alzheimer's disease

Researchers from Boston University School of Medicine report variants in a new gene, PLXNA4, which may increase the risk of developing Alzheimer's disease (AD). The discovery of this novel genetic association may lead to new drug treatment options that target PLXNA4 specifically.

28 Jul 2014

Metabolic pathway genes linked to AMD and choroidal vasculopathy

The cholesteryl ester transfer protein gene appears to increase susceptibility to neovascular age-related macular degeneration and polypoidal choroidal vasculopathy, research shows.

1 Jul 2014

Scientists design new system for molecular blood group typing

Scientists in France have designed a new system for molecular blood group typing that offers blood banks the possibility of extensive screening of blood donors at a relatively low cost. Their approach is described in the current issue of The Journal of Molecular Diagnostics.

10 Apr 2014

New DNA Quantification kits may help scientists to quickly assess highly compromised human DNA

Forensic scientists can now more quickly assess the quantity and quality of human DNA in highly compromised and degraded casework samples and provide the critical information needed to drive informed decisions on subsequent steps in the analysis process, thanks to two new Life Technologies quantification solutions announced today by Thermo Fisher Scientific.

21 Feb 2014

Genetics of rheumatoid arthritis contributes to biology and drug discovery

The results of the largest international study to date into the genetic basis of rheumatoid arthritis shed light on the biology of the disease and provide evidence that large-scale genetic studies can assist in the identification of new drugs for complex disorders such as rheumatoid arthritis.

26 Dec 2013

Study reveals why people are predisposed to cardiovascular disease and death

A genetic trait known to make some people especially sensitive to stress also appears to be responsible for a 38 percent increased risk of heart attack or death in patients with heart disease, scientists at Duke Medicine report.

19 Dec 2013

UCD Conway Institute researchers identify potential biomarker of idiopathic pulmonary ﬁbrosis

Researchers in UCD Conway Institute have identified a potential biomarker of rapidly progressive pulmonary fibrosis and pinpointed a defective molecular function as a potential therapeutic target.

18 Dec 2013

Parkinson's Institute, Population Diagnostics discover new genes relevant to Parkinson's disease

The Parkinson's Institute and Clinical Center announced today that they, in partnership with Population Diagnostics, Inc., have discovered a number of new genes relevant to the cause of Parkinson's disease.

20 Nov 2013

Researchers discover link between NOX4 enzyme and osteoporosis

Genkyotex, the leading developer of NOX enzyme inhibitors, announced today that a group of collaborators have discovered a link between the enzyme NOX4 and development of osteoporosis.

21 Oct 2013

Small alteration in a brain gene contributes to risk for anxiety, depression and memory loss

Researchers at Weill Cornell Medical College have discovered why a tiny alteration in a brain gene, found in 20 percent of the population, contributes to the risk for anxiety, depression and memory loss.

20 Sep 2013

Gene variations predict breast cancer sleep disturbance

Researchers have identified cytokine gene variations in women with breast cancer that may help to identify those at increased risk for sleep disturbance following surgery.

16 Sep 2013

Bioinformatics researchers investigate functional diversity of proteins

No two human beings are the same. Although we all possess the same genes, our genetic code varies in many places. And since genes provide the blueprint for all proteins, these variants usually result in numerous differences in protein function. But what impact does this diversity have? Bioinformatics researchers at Rutgers University and the Technische Universitaet Muenchen have investigated how protein function is affected by changes at the DNA level.

6 Sep 2013

Aortic stenosis doubles in patients with family history of the condition

Aortic stenosis is the most common heart valve disease in the elderly. It is associated with congenital bicuspid aortic valve and previous rheumatic heart disease, but is also often caused by calcification of a normal valve. Calcification of a normal valve may be associated with atherosclerotic changes in the portion of the aorta closest to the valve.

2 Sep 2013

Researchers identify gene that contributes to development of acute myeloid leukemia

Researchers at the University of Chicago Medicine Comprehensive Cancer Center (UCCCC) have identified a gene that contributes to the development of acute myeloid leukemia (AML). This pivotal finding follows 40 years of University of Chicago research that has slowly unraveled the genetic basis of leukemia.

21 Aug 2013