Single Nucleotide Polymorphisms News and Research

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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

Penn scientists develop combined medical and surgical care plan for managing Crohn's disease

The first published combined medical and surgical care plan for managing septic perianal Crohn's disease, a serious complication that occurs in around 40 percent of Crohn's disease patients, has been developed by researchers at Penn State College of Medicine.

23 Aug 2016

Study finds risk markers for Parkinson's disease hiding in unusual spots

Clues that point toward new risk mechanisms for developing Parkinson's disease are hiding in some unusual spots, according to a study published today in Scientific Reports

28 Jul 2016

Researchers identify genetic variants linked to radiotherapy side-effects in prostate cancer patients

A new study involving researchers from The University of Manchester looked at the genetic information of more than 1,500 prostate cancer patients and identified two variants linked to increased risk of radiotherapy side-effects.

26 Jul 2016

Researchers investigate role of OXTR gene in binge eating

A study by York University researcher Caroline Davis and her colleagues at the Centre for Addiction and Mental Health is the first to demonstrate that variants of the Oxytocin Receptor gene contribute to why some of us overeat or engage in episodes of binge eating.

13 Jul 2016

Scientists discover new genetic variations linked to increased myeloma risk

Researchers have identified eight new genetic variations in the human genome that could be linked to an increased risk of developing myeloma. The findings provide additional evidence and build on existing research that suggests myeloma can run in families.

5 Jul 2016

Study shows how genetic variants control immune cell response to pathogens

A study that is first in its kind and published in Nature Medicine today has looked at how far genetic factors control the immune cell response to pathogens in healthy individuals.

4 Jul 2016

Race impacts adverse outcomes in atrial fibrillation

Black individuals with atrial fibrillation have markedly higher rates of stroke, heart failure, coronary heart disease and mortality than their White counterparts, data from the Atherosclerosis Risk in Communities study show.

24 Jun 2016

Researchers find link between specific genetic pathway and development of mouth ulcers in lupus patients

The results of a study presented today at the European League Against Rheumatism Annual Congress showed for the first time an association between a specific genetic pathway and the development of mouth ulcers in patients with Systemic Lupus Erythematosus (SLE).

13 Jun 2016

BioNano study describes use of Irys System with Illumina-based NGS methods to achieve high-quality genomic assemblies

BioNano Genomics, the leader in physical genome mapping, today announced publication of another study describing application of its next-generation mapping (NGM) technology as the critical component in achieving high-quality de novo human genome assemblies with unprecedented contiguity.

13 May 2016

Simultaneous DNA, RNA and protein analysis to enhance cancer immunology studies: an interview with Dr Joseph Beechem

Cancer immunology is all about how your immune cells are going to fight and kill your tumor cells. If you look at the pure genetic code of a T-cell that's going to kill your tumor compared to the same cell that has been “put-to-sleep” (by the tumor), the pure genetic DNA content of those two cells are identical.

From NanoString Technologies 11 May 2016

Discovery of shared biological properties among DNA variants may help identify new therapeutic targets

The discovery of shared biological properties among independent variants of DNA sequences offers the opportunity to broaden understanding of the biological basis of disease and identify new therapeutic targets, according to a collaboration between the Perelman School of Medicine at the University of Pennsylvania, the University of Arizona Health Sciences, and Vanderbilt University. The group published their findings this month in npj Genomic Medicine.

29 Apr 2016

HLA-C/KIR genotype linked to HBeAg-positive HBV interferon response

The human leucocyte antigen-C and killer immunoglobin-like receptor genotypes are associated with response to interferon-based therapy in patients with chronic hepatitis B virus infection positive for hepatitis B e antigen, say researchers.

13 Apr 2016

P53 genetic variant heavily implicated in metabolism, new research finds

The study may also provide an evolutionary explanation for differences in populations living farther away from the Equator. Human ancestors may have undergone this change in R72 to promote energy storage in cold climates and during times of famine. However, in modern society, the need for this type of variant in our genes is unnecessary, leading instead to increased risk for obesity and type 2 diabetes. Obesity is also a risk factor for certain types of cancer, so these findings may also explain why the R72 variant of p53 might predispose certain people to cancer.

4 Mar 2016

Penn researchers develop new mathematical model to estimate mutation rates in the human genome

It turns out that the type, how frequent, and where new mutations occur in the human genome depends on which DNA building blocks are nearby, found researchers from the Perelman School of Medicine at the University of Pennsylvania in an advanced online study published this week in Nature Genetics.

22 Feb 2016

Research offers novel insights into root causes of schizophrenia

Schizophrenia is a mysterious and devastating disorder that afflicts one percent of the adult population worldwide. Its symptoms — hallucinations, emotional withdrawal, and cognitive impairment — are chronic and typically emerge just as individuals are entering adulthood. Today's medications treat just one of these symptoms (psychosis); treatments for the underlying disease and its many other symptoms have been hard to develop, because no one really understands what causes the disorder.

31 Jan 2016