Single Nucleotide Polymorphisms News and Research

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Women who test negative for family-specific BRCA2 mutations may have four times risk for breast cancer

Women who are members of families with BRCA2 mutations but who test negative for the family-specific BRCA2 mutations are still at greater risk for developing breast cancer compared with women in the general population, according to a study published in Cancer Epidemiology, Biomarkers & Prevention, a journal of the American Association for Cancer Research.

27 Nov 2013

Researchers repurpose genetic data, electronic medical records to perform large-scale PheWAS study

Vanderbilt University Medical Center researchers and co-authors from four other U.S. institutions from the Electronic Medical Records and Genomics (eMERGE) Network are repurposing genetic data and electronic medical records to perform the first large-scale phenome-wide association study (PheWAS), released today in Nature Biotechnology.

26 Nov 2013

ESBC joins with Athena Breast Health Network to advance personalized breast cancer risk assessment

Edith Sanford Breast Cancer (ESBC), part of the Sanford Health system based in Sioux Falls, SD, today announced it is partnering with the Athena Breast Health Network, a University of California program, to advance the use of a personalized breast cancer risk assessment.

16 Nov 2013

Population genetic studies may have limited role in schizophrenia

Studying the genetics of people in the general population who have psychotic experiences is unlikely to yield useful information about schizophrenia, say researchers.

6 Nov 2013

Meta-analysis shows that XRCC1 Arg399Gln polymorphism may be a biomarker of glioma susceptibility

DNA damage is an important mechanism of glioma. X-ray cross-complementing group 1 (XRCC1) is a DNA repair gene that participates in the base excision repair pathway. To date, many studies have been performed to investigate the association between the XRCC1 polymorphisms and risk of cancers such as breast cancer, and gastroesophageal cancer, but the number of studies that focused on glioma is relatively small.

30 Oct 2013

Study finds inherited GATA3 gene variation increases risk of developing pediatric leukemia

Research led by St. Jude Children's Research Hospital scientists has linked an inherited gene variation to a nearly four-fold increased risk of developing a pediatric acute lymphoblastic leukemia (ALL) subtype that is associated with a poor outcome.

21 Oct 2013

Genetic mutation that protects skin from UV radiation may cause testicular cancer in Caucasian

A Ludwig Cancer Research study published in Cell today identifies a common mutation that dramatically increases the risk for testicular cancer—and describes a likely molecular mechanism by which it exerts that effect.

11 Oct 2013

Regular five-meal pattern associated with reduced risk of obesity

A regular eating pattern may protect adolescents from obesity, according to a Finnish population-based study with more than 4,000 participants. When eating five meals - breakfast, lunch, dinner and two snacks - a day, even those with a genetic predisposition to obesity had no higher body mass index (BMI) than their controls.

3 Oct 2013

Genetic discovery could take guesswork out of prescribing correct dose of drugs

The discovery of genetic differences affecting up to a third of the population could take the guesswork out of prescribing the correct dose of 25 percent of drugs currently on the market, researchers say.

2 Oct 2013

$Researchers show link between FTO gene and hip fracture in women$

Researchers show link between FTO gene and hip fracture in women

Australian researchers have demonstrated a strong association between the FTO (fat and obesity) gene and hip fracture in women. While the gene is already well known to affect diabetes and obesity, this is the first study to show that its high-risk variant can increase the risk of hip fracture by as much as 82%.

25 Sep 2013

New And Improved Method For Analyzing Single-Cell Gene Expression

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24 Sep 2013

Researchers develop new, improved technique for single-cell gene expression analysis

A team of researchers affiliated with Ludwig Cancer Research and the Karolinska Institutet in Sweden report in the current issue of Nature Methods a dramatically improved technique for analyzing the genes expressed within a single cell -- a capability of relevance to everything from basic research to future cancer diagn

23 Sep 2013

Sequenom announces Certified Service Provider program for technical certification

Sequenom, Inc., a life sciences company providing innovative diagnostic testing and genetic analysis solutions, today announced a Certified Service Provider (CSP) program for the technical certification of selected laboratories offering research services using the Sequenom research-use-only MassARRAY System.

18 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

NIH awards nearly $14M grants to research on how genetic factors influence susceptibility to disease

Five research teams have received new four-year awards to study the genomics of disease susceptibility in ethnically diverse populations. The projects aim to unravel the subtle variations in genetic makeup among groups - including African-Americans, Asian-Americans, Hispanics and more - that may account for differences in risks for conditions such as high blood pressure and high blood lipids, in addition to common diseases such as cancer and heart disease.

7 Sep 2013

NIH Funds Minority Disease Susceptibility Studies

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6 Sep 2013

Plasma marker inflames schizophrenia risk

Elevated plasma levels of the inflammatory molecule C-reactive protein may be a marker of an increased risk for developing schizophrenia, a study suggests.

6 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

Schizophrenia genetics come into focus

A study in Nature Genetics illustrates the large impact of genetic variation on risk for schizophrenia.

30 Aug 2013

Researchers develop ddPCR technology to quantify rejection biomarker in organ transplant injury

A recently reported blood test for the early detection of organ transplant injury could enable more timely therapeutic intervention in transplant patients and thus help to avoid longer term damage. As described by scientists at the University Medical Center G-ttingen and Chronix Biomedical, a molecular diagnostics company, the new method uses Bio-Rad Laboratories' Droplet Digital PCR (ddPCR-) technology to overcome the obstacles of earlier tests, which were both time-consuming and costly.

28 Aug 2013

Single Nucleotide Polymorphisms News and Research

Women who test negative for family-specific BRCA2 mutations may have four times risk for breast cancer

Researchers repurpose genetic data, electronic medical records to perform large-scale PheWAS study

ESBC joins with Athena Breast Health Network to advance personalized breast cancer risk assessment

Population genetic studies may have limited role in schizophrenia

Meta-analysis shows that XRCC1 Arg399Gln polymorphism may be a biomarker of glioma susceptibility

Study finds inherited GATA3 gene variation increases risk of developing pediatric leukemia

Genetic mutation that protects skin from UV radiation may cause testicular cancer in Caucasian

Regular five-meal pattern associated with reduced risk of obesity

Genetic discovery could take guesswork out of prescribing correct dose of drugs

Researchers show link between FTO gene and hip fracture in women

New And Improved Method For Analyzing Single-Cell Gene Expression

Researchers develop new, improved technique for single-cell gene expression analysis

Sequenom announces Certified Service Provider program for technical certification

Gene variations predict breast cancer sleep disturbance

NIH awards nearly $14M grants to research on how genetic factors influence susceptibility to disease

NIH Funds Minority Disease Susceptibility Studies

Plasma marker inflames schizophrenia risk

Bioinformatics researchers investigate functional diversity of proteins

Schizophrenia genetics come into focus

Researchers develop ddPCR technology to quantify rejection biomarker in organ transplant injury

How ELRIG Is Helping Mid-Career Scientists Navigate Leadership, Career Change and Redundancy

The role of UV-Vis in biopharma QC

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