Single Nucleotide Polymorphisms News and Research

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Proteomics unravels molecular mechanisms influenced by genetic variations

How does type 2 diabetes develop? A team of researchers headed by the Helmholtz Zentrum München and the Technical University of Munich has come closer to finding an answer to this problem. The team examined the functional effects of exemplary genetic variations relevant for type 2 diabetes. Their approach can be applied to many clinical pictures.

28 Mar 2017

Researchers develop novel genetic score to calculate age-specific risk of Alzheimer's disease

An international team of scientists, led by researchers at University of California San Diego School of Medicine and University of California San Francisco, has developed a novel genetic score that allows individuals to calculate their age-specific risk of developing Alzheimer's disease (AD), based upon genetic information.

22 Mar 2017

Methylation status of ten positions in genome correlates with all-cause mortality

Various chemical modifications in the genome determine whether genes are read or deactivated. Methyl labels in the DNA play a key role in this "epigenetic" regulation of gene activity.

20 Mar 2017

Scientists identify genetic clues to chronic kidney disease

Using international genomic studies backed by proof-of-concept cell experiments, researchers have identified two genes that contribute to the chronic kidney disease glomerulonephritis.

16 Mar 2017

Scientists find evidence for gene that may be linked to social phobia

People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life and maintain contact above all on the Internet.

9 Mar 2017

Researchers identify gene variants that may predispose individuals to develop gallbladder cancer

By comparing the genetic code of gallbladder cancer patients with those of healthy volunteers at nearly 700,000 different locations in the genome, researchers say they have found several gene variants which may predispose individuals to develop the disease.

6 Mar 2017

Researchers identify genetic variants that may contribute to schizophrenia

New research has identified sections of DNA associated with altered regulation of gene expression underlying schizophrenia.

27 Feb 2017

Pitt study sheds light on shared roots of schizophrenia and rheumatoid arthritis

An in-depth computational analysis of genetic variants implicated in both schizophrenia and rheumatoid arthritis by researchers at the University of Pittsburgh points to eight genes that may explain why susceptibility to one of the disorders could place individuals at lower risk for the other, according to the results of a study published today in the journal npj Schizophrenia.

24 Feb 2017

Genetic variant encoded in NCF1 linked to increased risk for autoimmune diseases, study shows

Investigators at the Medical University of South Carolina report pre-clinical research showing that a genetic variant encoded in neutrophil cystolic factor 1 (NCF1) is associated with increased risk for autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, and Sjögren's syndrome, in the January 2017 issue of Nature Genetics.

8 Feb 2017

NMR and metabolic phenotyping

In this interview, Dr Harmut Schafer introduces the work being done at the Phenome Center in Birmingham, on metabolic phenotyping using NMR.

From Bruker BioSpin Group 31 Jan 2017

Novel potassium channel genes could be promising therapeutic targets for alcohol use disorder

A handful of FDA-approved drugs exist for treating individuals with alcohol use disorder but they have been largely ineffective at reducing the high rates of relapse. As such, there remains a critical need to identify and develop alternative pharmacological treatment options.

31 Jan 2017

Metabolomics and NMR

Bruker has been involved in the Phenome Center network since its beginning. Several years ago, the whole visionary concept of a global phenome network was actually born with Professor Jeremy Nicholson and Bruker BioSpin has been part of it since the early stages.

From Bruker BioSpin Group 17 Jan 2017

DaVita releases recap of 2016 accomplishments

DaVita Inc., a leading independent medical group and a leading provider of kidney care services in the United States, today released a recap of major accomplishments for the company in 2016, marking its 16th year bringing quality of life to patients and teammates around the world.

30 Dec 2016

Consortium develops new approach to understand causes of common cancers

Through the development of a novel, inexpensive genotyping microarray, the OncoArray, Dartmouth investigators have led a key collaborative research study that will revolutionize our knowledge of the causes of common cancers.

27 Oct 2016

Researchers identify genomic regions linked to ulcerative colitis in African-Americans

In the first genome-wide association study of genetic risk factors for inflammatory bowel disease in African Americans, a research team has identified two regions of the genome (loci) associated with ulcerative colitis only in people of African descent.

20 Oct 2016

Gene variants linked to hot flashes in menopausal women

Most women experience hot flashes and night sweats either before or during menopause, but a significant minority don't have these symptoms. Could our genes be a factor in determining which women get hot flashes?

19 Oct 2016

Researchers move one step closer to unraveling mechanism of multiple-gene disorder

Scientists at Johns Hopkins say they are one step closer to understanding the genetic mechanism of a rare, complex, multiple-gene disorder called Hirschsprung's disease.

30 Sep 2016

Study finds no link between milk intake and cardiovascular risk

Researchers in Valencia participated in an international study that has debunked the association between milk and dairy products and increased cardiovascular risk.

29 Sep 2016

Study suggests interactions between distant DNA regions may impact disease gene levels

A person's DNA sequence can provide a lot of information about how genes are turned on and off, but new research out of Case Western Reserve University School of Medicine suggests the 3-D structure DNA forms as it crams into cells may provide an additional layer of gene control.

21 Sep 2016

Preimplantation genetic screening using next generation sequencing: an interview with Dr Luis Alcaraz

PGS, Preimplantation Genetic Screening, is a genetic test that analyses biopsied cells from embryos produced by in vitro fertilization (IVF) techniques. PGS determines whether the embryos are chromosomally normal (euploid) or not (aneuploid), thus giving the chance to transfer chromosomally normal embryos that are more apt to successfully implant and develop into a pregnancy.

24 Aug 2016