Single Nucleotide Polymorphisms News and Research

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Genetic polymorphisms may serve as prognostic markers for lung cancer

Genetic polymorphisms associated with cancer progression lead to variations in gene expression and may serve as prognostic markers for lung cancer. Researchers at the Hiroshima University and Saitama Medical University found that in patients with lung cancer, a single nucleotide polymorphism (SNP) may regulate gene and protein expression and be associated with poor prognosis.

6 Oct 2015

New reference catalogue may help guide future studies of genetics, evolution and disease

Missing a gene may be less problematic than you'd think. This is one of the conclusions that emerge from the most extensive catalogue of structural variations - changes in large sections of a person's DNA sequence - to date.

1 Oct 2015

New report implicates five genetic regions that play major roles in CF disease severity

If you have two faulty copies of the CFTR gene, you will have cystic fibrosis. But the severity of your disease will depend on environmental factors and many other genes. Locating these genes and altering their function could lead to new therapies.

29 Sep 2015

NanoString announces key initiatives to expand market for nCounter Analysis System, related product portfolio

At a meeting with analysts and investors today, members of the senior management team of NanoString Technologies, Inc., a provider of life science tools for translational research and molecular diagnostic products, plan to unveil the company’s strategic roadmap to drive continued growth and expand the market for its nCounter Analysis System and the related product portfolio.

From NanoString Technologies 14 Sep 2015

Genes that may mitigate smoking damage and cancer identified

Smoking has been shown to have drastic consequences for lifespan and disease progression, and it has been suggested that cigarette exposure may impact the risk of death and disease via its acceleration of the aging process. Not all smokers experience early mortality, however, and a small proportion manage to survive to extreme ages.

10 Sep 2015

Smoking may not always shorten life, cause cancer

10 Sep 2015

Researchers find answer to continuing debate in the cardiovascular scientific world

Researchers from the University of Ottawa Heart Institute, together with the teams of Dr. Martin Farrell at Oxford University, and Dr. Sekar Kathiresan at the Broad Institute, have found the answer to an ongoing debate in the cardiovascular scientific world. Dr. Ruth McPherson and Dr. Majid Nikpay, researchers at the UOHI's Ruddy Canadian Cardiovascular Genetics Centre, report that the genetic basis of heart disease is largely derived from the cumulative effect of multiple common genetic variants, rather than from a few rare variants with large effects.

9 Sep 2015

First ever SNP array optimized for Japanese population

A research group, led by Professor Masao Nagasaki and Senior Assistant Professor Yosuke Kawai at Tohoku University Tohoku Medical Megabank Organization, has successfully designed the first ever SNP array that has been optimized for the Japanese population.

3 Sep 2015

Gene linked to sudden cardiac death in general population identified using ICD monitoring

A gene associated with sudden cardiac death in the general population has been identified using implantable cardioverter defibrillator (ICD) monitoring in research presented for the first time at ESC Congress today.

1 Sep 2015

Type 2 diabetes patients with specific genetic markers at higher risk of developing Alzheimer's disease

Certain patients with type 2 diabetes (T2D) may have specific genetic risk factors that put them at higher risk for developing Alzheimer's disease (AD), according to a study conducted at the Icahn School of Medicine at Mount Sinai and published recently in Molecular Aspects of Medicine.

17 Jul 2015

GENALICE, KeyGene jointly mark significant mutual benefits of first two years of partnerships

Today, molecular genetics Ag Biotech company KeyGene and biomedical big data solutions company GENALICE, jointly mark the significant mutual benefits of their first two years of partnerships, running GENALICE MAP in full production as their preferred tool for primary Next-Generation Sequencing (NGS) data analysis.

15 Jul 2015

Penn study suggests future precision medicine approach to treating diabetes, other metabolic disorders

In the first study of its kind, Penn researchers have shown how an anti-diabetic drug can have variable effects depending on small natural differences in DNA sequence between individuals. Mitchell Lazar, MD, PhD, Raymond Soccio, MD, PhD, and colleagues at the Perelman School of Medicine at the University of Pennsylvania, aim to apply this knowledge to develop personalized approaches to treating diabetes and other metabolic disorders.

3 Jul 2015

SNPs predict sunitinib outcome in mRCC

Research has confirmed that single nucleotide polymorphisms in genes related to the processing of sunitinib influence the outcome of treatment for metastatic renal cell carcinoma.

29 May 2015

Researchers compile new genomic interactions catalogue

New clues about diseases like inflammatory bowel disorder may be found thanks to a new genomic interactions catalogue by a group of researchers in Japan and the United Kingdom. This research will be published on May 4, 2015 in Nature Genetics.

6 May 2015

Scientists identify missing genetic link in common variable immunodeficiency disorder

In the largest genetic study to date of a challenging immunodeficiency disorder, scientists have identified a gene that may be a "missing link" between overactive and underactive immune activity. The gene candidate also plays a key role in autoimmune diseases such as type 1 diabetes, rheumatoid arthritis and allergies.

23 Apr 2015

Smoking and genetics can increase women's likelihood of giving birth to twins

African American mothers who smoke and have a genetic profile that includes a single nucleotide polymorphism (SNP) of the TP53 gene have an increased likelihood of having twins, concluded a team of researchers from the University of South Florida and the University of Illinois at Urbana-Champaign.

21 Apr 2015

Mayo Clinic-led researchers combine genetic variants to improve identification of women with breast cancer

Recent large-scale genomic analyses have uncovered dozens of common genetic variants that are associated with breast cancer. Each variant, however, contributes only a tiny amount to a person's overall risk of developing the disease.

6 Apr 2015

Big data helps discover gephyrin protein's connection in human history

Big data: It's a term we read and hear about often, but is hard to grasp. Computer scientists at Washington University in St. Louis' School of Engineering & Applied Science tackled some big data about an important protein and discovered its connection in human history as well as clues about its role in complex neurological diseases.

30 Mar 2015

Cumulative genetic risk may underlie many Parkinson’s cases

Genetic risk for Parkinson’s disease may be due as much to multiple genes with small individual effects as to single high-risk genes, research suggests.

19 Mar 2015

Genetic markers may help decide who benefits from aspirin, NSAIDs in lowering risk of colorectal cancer

An Indiana University cancer researcher and her colleagues have identified genetic markers that may help determine who benefits from regular use of aspirin and other nonsteroidal anti-inflammatory drugs for lowering one's risk of developing colorectal cancer.

18 Mar 2015