Sentences with phrase «variations in disease»

For genetic screenings in a clinical setting it could for instance enable to correctly assign critical genetic variations in disease - linked genes.

Based on the new findings, the researchers suspect telomere length explains the variations in disease severity.

Krysia Lynch, Chair Krysia Lynch started her working life as a researcher in environmental health and epidemiology; researching spatial variations in disease incidence and health provision.

«Thus, it is clear that further studies must investigate an increasingly complex matrix of cell types and conditions to fully understand the role of human genetic variation in disease.»

«NGS technologies have vastly improved our understanding of the human genome and its variation in diseases such as cancer,» said Ken Chen, Ph.D., assistant professor of Bioinformatics and Computational Biology and co-author of the Nature Methods article.

The intermediate phenotypes determine, in part, variation in disease expression and clinical presentation among individuals with equivalent underlying genetic or environmental exposures that predispose to a disease state.

This disease is caused by tri-nucleotide repeat expansions in the gene DMPK, which incompletely explain the large variation in disease severity observed in patients.

Not exact matches

But it has been disappointing in that the kind of genetic variation it detects has turned out to explain surprisingly little of the genetic links to most diseases... One issue of debate among researchers is whether, despite the prospect of diminishing returns, to continue with the genomewide studies, which cost many millions of dollars apiece, or switch to a new approach like decoding the entire genomes of individual patients.The unexpected impasse also affects companies that offer personal genomic information and that had assumed they could inform customers of their genetic risk for common diseases, based on researchers» discoveries...

In summary, Jellinek can be listed with those who, for one reason or another, and despite all the variations and complexities, regard alcoholism as a «disease.»

While there was some variation between the populations that were studied, such as between men and women, people living in different regions, or people with different risk factors, the researchers found that nut consumption was associated with a reduction in disease risk across most of them.

By examining tissue from different disease stages within valve samples of the same patient, the researchers were able to avoid donor variation in their analysis.

The second step is to research how this variation in the genome is related to the disease,» explains Prof. Jeanette Erdmann, DZHK Professor at the Institute for Cardiogenetics at the Universität zu Lübeck, who worked on the current study together with Prof. Heribert Schunkert of the DZHK Munich partner site.

He had noted subtle variations between the resistance genes he pulled out of soil organisms and their doppelgängers in disease - causing bacteria.

We have identified hundreds of genetic variations associated with autoimmune diseases that appear to affect the activity of genes in specific regions of the genome, pointing to biological pathways that may be involved in disease and which, ultimately, may be treatable with medication.»

Today in Cell and associated journals, 24 research studies from the landmark BLUEPRINT project and IHEC consortia reveal how variation in blood cells» characteristics and numbers can affect a person's risk of developing complex diseases such as heart disease, and autoimmune diseases including rheumatoid arthritis, asthma, celiac disease and type 1 diabetes.

By uncovering these hidden variations, researchers should be able to better explain the hard - to - find genetic components of diseases such as mental illnesses, says Randy Jirtle, an epigeneticist at Duke University in Durham, North Carolina.

Now a team led by Kári Stefánsson at deCODE genetics in Reykjavik, Iceland, has looked at hundreds of thousands of single - letter DNA variations to examine how imprinting affects the risk of disease.

«This raises several questions for us, such as why is there a difference in brain pattern and might it reflect differences in health issues for men and women, particularly in cardiovascular disease variations,» Macey said.

In the second study, Dr. McCoy and colleagues demonstrated the application of this new method to examine the association between symptom dimensions and common genetic variation in psychiatric diseasIn the second study, Dr. McCoy and colleagues demonstrated the application of this new method to examine the association between symptom dimensions and common genetic variation in psychiatric diseasin psychiatric disease.

Using an approach called a genome - wide association study, researchers scanned complete sets of DNA in thousands of participants, looking for small variations that appear more often in people with the disease than in healthy individuals.

The team fit a mathematical contagion model for the spread of disease to the data and was able to show that the trends in the news media stories explained nearly all of the variation in the social media.

The researchers discovered that patients who had certain genetic variations in interleukin genes had a better response to either surgery or chemotherapy, resulting in improvements in overall survival, disease - free survival and the amount of time until disease recurred.

In pregnancies complicated by fetal congenital heart disease (CHD), global placental perfusion was significantly decreased and regional variation of placental perfusion significantly increased as pregnancies progressed, findings that point to non-invasive imaging providing an early warning of placental dysfunction.

Adds Visscher: «This is entirely in line with theory and previous inference from SNP [variant] data, yet for some reason many researchers in human genetics and epidemiology continue to believe that there is a lot of non-additive genetic variation for common diseases and quantitative traits.»

In other words, a drop of 10 °C in the average temperature over seven days, which is common in several countries because of seasonal variations, is associated with an increased risk in being hospitalized or dying of heart failure of about 7 percent in people aged over 65 diagnosed with the diseaseIn other words, a drop of 10 °C in the average temperature over seven days, which is common in several countries because of seasonal variations, is associated with an increased risk in being hospitalized or dying of heart failure of about 7 percent in people aged over 65 diagnosed with the diseasein the average temperature over seven days, which is common in several countries because of seasonal variations, is associated with an increased risk in being hospitalized or dying of heart failure of about 7 percent in people aged over 65 diagnosed with the diseasein several countries because of seasonal variations, is associated with an increased risk in being hospitalized or dying of heart failure of about 7 percent in people aged over 65 diagnosed with the diseasein being hospitalized or dying of heart failure of about 7 percent in people aged over 65 diagnosed with the diseasein people aged over 65 diagnosed with the disease..

Genetic factors can contribute to the degree of longevity in at least two important ways: An individual may inherit certain genetic variations that predispose him or her to disease that decreases longevity; other gene variants may confer disease resistance, thereby increasing it.

So the personal genomics company 23andMe turned heads in June when it announced that its researchers had analyzed DNA from more than 30,000 people and discovered two new genetic variations associated with Parkinson's disease in only a year and a half.

And if successful, the systems approach should help doctors tailor treatments to individual variations in DNA, permitting personalized medicine that deters disease without inflicting side effects.

Since the current work was done in mice, O'Leary and Zembrzycki want to confirm the link in humans by using brain scans to measure the natural variation in the neocortical areas and search for potential links to disease.

The new report describes experiments in mice showing how genetic variation in a host animal shapes the microbiome — a rich ecosystem of mostly beneficial microorgannisms that resides in the gut — and sets the table for the onset of metabolic disease.

They generated a list of 18 genetic variations found only in people with Fuchs dystrophy, later narrowing the list to three most relevant to disease with the help of corneal laboratory models.

«Given the wide variation in the transmission of the disease — endemic areas, areas of low endemicity, hyperendemic areas, and sometimes these strata all occurring in the same country — we prefer to look at each country separately without aggregates over the entire continent,» Buj says.

They found men with a specific variation in the well - known TCF4 gene have a higher risk of disease, while women with variations in one of the newly identified genes, LAMC1, have an increased risk.

«Single - cell transcriptogenomics will be instrumental in gaining a more complete understanding of how variations in the genome can lead to functional deficiencies in aging and disease.»

«Thyroid gene variation may increase risk for Alzheimer's disease in African Americans.»

Published September 15 in Genome Biology, the study relied on new software for researchers that identifies connections between seemingly unrelated human diseases and traits through the tiny, risk - conferring genetic variations they have in common.

In the case of a disease like heartworm, which is transmitted by mosquitoes and infects both wild animal populations and companion animals, there is some natural variation in both drug coverage and mixinIn the case of a disease like heartworm, which is transmitted by mosquitoes and infects both wild animal populations and companion animals, there is some natural variation in both drug coverage and mixinin both drug coverage and mixing.

«A better understanding of individual susceptibility to dental disease and variation in treatment outcomes will allow the dental field to move forward,» says Alexandre Vieira, a researcher involved in the study.

In 2007, researchers came to appreciate the extent to which our genomes differ from person to person and the implications of this variation for deciphering the genetics of complex diseases and personal traits.

With this understanding, we'll be better able to predict how variations in a protein might lead to changes in phenotype, which — when we're talking about variations associated with dysfunction and disease — will be crucial for figuring out how drug treatments might differ among individuals.

Variations in methylation between healthy and ailing tissues «might give us a better understanding of what goes wrong» in some diseases, says Alexander Olek of Epigenomics, a biotech start - up in Berlin.

Techniques that scan for hundreds of thousands of genetic differences at once are linking particular variations to particular traits and diseases in ways not possible before.

Her research is at the interface between bioimaging and proteomics, and aims to define the spatiotemporal organization of the human proteome at a subcellular level in an effort to understand how variations and deviations in localization contribute to cellular function as well as disease.

At this stage, the compensation becomes so overwhelming that even small variations in the level of dopamine trigger the stop signal — which can therefore cause the patient to develop the disease.»

Perhaps DNA damage from subtle but common variations in the WS gene may predispose people to vascular disease, cataracts and diabetes, even if they don't suffer from a full - blown form of the disease.

«This is how we can start thinking about precision medicine in action,» said the study's senior author, Alice S. Chen - Plotkin, MD, an assistant professor of neurology at Penn. «We found that a relatively common genetic variation can both serve as a biomarker for and influence the disease course of Parkinson's patients.

Researchers studying two generations of a family affected by pediatric acute lymphoblastic leukemia (ALL) have identified an inherited variation in the ETV6 gene that is associated with an increased risk of developing the disease.

Dozens of genetic variations act in concert with environmental factors to cause the debilitating neurological disease.

In an accompanying editorial, Steven J. Keteyian, Ph.D., and Clinton A. Brawner, Ph.D., of the Division of Cardiovascular Medicine at Henry Ford Hospital in Detroit, wrote, «We are reminded that we still know relatively little about how variations in physical activity and exercise «dose» might impact disease onset.&raquIn an accompanying editorial, Steven J. Keteyian, Ph.D., and Clinton A. Brawner, Ph.D., of the Division of Cardiovascular Medicine at Henry Ford Hospital in Detroit, wrote, «We are reminded that we still know relatively little about how variations in physical activity and exercise «dose» might impact disease onset.&raquin Detroit, wrote, «We are reminded that we still know relatively little about how variations in physical activity and exercise «dose» might impact disease onset.&raquin physical activity and exercise «dose» might impact disease onset.»

«One day we hope to have therapeutic treatments for all of the different genetic variations that contribute to this complex disease, not just medications that delay heart failure,» said Valentin Fuster, MD, PhD, Director of Mount Sinai Heart, the Zena and Michael A. Wiener Cardiovascular Institute, and the Marie - Josée and Henry R. Kravis Center for Cardiovascular Health, and Physician - in - Chief at The Mount Sinai Hospital.