Sentences with phrase «variants in human disease»

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This team also discovered 3,200 genes that had fewer loss - of - function or missense mutations than would be expected suggesting that these are likely disease - causing variants that are rare or absent in the population because of their detrimental effect on human health.

Of the thousands of ancestral variants reintroduced into modern humans, only 41 have been linked in genetic studies to diseases, such as skin conditions and neurological and psychiatric disorders, he said.

«But in this case, when this virus infects cells, the virus makes its own transcription factors, and those sit on the human genome at lupus risk variants (and at the variants for other diseases) and that's what we suspect is increasing risk for the disease.»

In addition to chronic wasting disease, examples include scrapie and bovine spongiform encephalopathy (or «mad cow disease») in animals and variant Creutzfeldt - Jakob disease in humanIn addition to chronic wasting disease, examples include scrapie and bovine spongiform encephalopathy (or «mad cow disease») in animals and variant Creutzfeldt - Jakob disease in humanin animals and variant Creutzfeldt - Jakob disease in humanin humans.

Studies on the origins of BSE — a fatal disease marked in the early stages by loss of balance — gained urgency with the 1996 emergence in humans of the BSE - like new variant Creutzfeldt - Jakob disease (nvCJD).

In this study, published in the Journal of the American College of Cardiology, researchers also identified six further variants in the human genome that occur more frequently in a coronary artery disease (CADIn this study, published in the Journal of the American College of Cardiology, researchers also identified six further variants in the human genome that occur more frequently in a coronary artery disease (CADin the Journal of the American College of Cardiology, researchers also identified six further variants in the human genome that occur more frequently in a coronary artery disease (CADin the human genome that occur more frequently in a coronary artery disease (CADin a coronary artery disease (CAD).

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.»

The findings indicate that not only might Oprl1 become dysregulated in humans following the development of PTSD, but inherited variants of the disease could increase the likelihood of someone developing the disorder to begin with.

«The project has made important new contributions towards describing the role of rare genetic variants in a broad range of disease scenarios and human traits.»

«Using a technique developed by our collaborators at the University of Iowa, we were able to get long - term expression of these human gene variants in the fluid that bathes the entire brain,» says Bradley Hyman, MD, PhD, of the MassGeneral Institute for Neurodegenerative Disease (MGH - MIND), senior author of the report in the Nov. 20 Science Translational Medicine.

Their analysis — which used DNA data from a Neandertal woman from the Altai Mountains in Siberia (SN: 1/25/14, p. 17) and 112,338 present - day British people — confirmed some links between Neandertal heritage and human diseases made by previous studies (SN: 3/5/16, p. 18), but didn't find evidence that Neandertal gene variants contribute to obesity.

BSE isn't contagious at all, but it always kills the animals that get it as well as humans too — a rare occurrence — in the form of new variant Creutzfeldt - Jakob disease.

A type of the disease called variant CJD in humans results from eating meat infected with mad cow disease.

A new study shows that large structural variants in human glycophorin genes, which are unusually common in Africa, are protective against malarial disease.

«Our findings also have important implications for mitochondrial diseases in humans, because this research significantly advances our understanding of how mitochondrial DNA mutations affect individuals and populations, and provides a potential mechanism to explain how different genetic variants may affect health,» Dr Rollins said.

SIVcpz - infected chimps have a significantly higher frequency of the relatively rare genetic variant that is linked to protection from disease in humans.

«Although I wholeheartedly agree that rare variants play a substantial role in human diseases, I also think that the section on GWAS reflects misunderstandings of the concept of GWAS, ignorance of standard practices in GWAS, misinterpretation of published primary research data, and as a result, is misinforming the general readership of Cell,» wrote Kai Wang, a postdoc at Children's Hospital of Philadelphia whose papers were cited in the Cell article.

«It is now clear that common risk variants fail to explain the vast majority of genetic heritability for any human disease,» they wrote in an essay, arguing that many of the hundreds of GWAS findings to date «stem from factors other than a true association with disease risk.»

to accelerate the basic understanding of the genes and pathogen variants involved in human and animal diseases

In human disease, researchers need new and better ways to find structural variants and profile 3D chromatin features across the whole genome.

Jason Heaney, Baylor College of Medicine - Modelling human disease variants in murine ortholog (s) with CRISPR / Cas9

Our proposal represents the kind of research I am interested in, which seeks to modify natural protein variants to be used as therapeutic options for human brain diseases.

Furthermore, new genome - editing technologies such as CRISPR / Cas9 now enable the efficient derivation of precision disease models incorporating patient - specific genetic variants as a means of recapitulating essential aspects of human disease in mouse and other model organisms.

Bovine Spongiform Encephalopathy (BSE), a prion disease that occurs in cattle, is the cause of variant Creutzfeldt - Jakob disease (vCJD) in humans.

This study of human genetic variation and its relationship to health and disease involves a large number of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in complex disease.

In human infection, host genetics vary widely, multiple variants of B. burgdorferi may be the infecting pathogens, co-infections could contribute to disease presentation, and the possibility of re-infection can not be restricted; thus, neither host nor pathogen can be controlled.

Not so long ago, there was a hope in the research community that common genetic variation, i.e. variants present at minor allele frequencies > 5 % in human populations, might explain most or all of the heritability of common complex disease.

Acquire tissue samples and clinical information from as many cases of human prion disease occurring in the United States as possible in order to help monitor the possible occurrence of variant CJD (vCJD) in the USA.

For many human diseases, large - scale genomic studies have identified common genetic variants that occur more frequently in people with cardiovascular, autoimmune, inflammatory and infectious diseases, diabetes and asthma than in those without these diseases.

Potential projects include identifying common pathways that modify retinal degenerative disease from a large collection of actively maintained mouse models; determining molecular networks implicated in pathological disruption of the retinal pigment epithelium; identifying molecular pathways that regulate postnatal ocular growth; and using mouse models to assess the pathogenic role of gene variants that increase the risk of age - related macular degeneration as identified by human genome - wide association studies.

Earlier in her career, Dr. Lasmézas» research provided the first experimental evidence that the prion disease «mad cow disease» had been transmitted to humans, causing variant Creutzfeldt - Jakob disease.

Analyzes whole genome and detailed clinical data from nearly 300,000 Icelanders Finds several novel variations in the sequence of the human genome modulating cholesterol levels Five variants are also causally linked to increased risk of coronary artery disease Shows...

If the same technique works in humans, it could have big implications for curing a number of diseases caused by genetic variants.

According to the scientists, these results show that although the gene variants — which make individual humans different from each other — in general have a small impact on disease development, the gene switches in which they reside can play a major role.

Rare copy number variants contribute to congenital left - sided heart disease Rare variants in NR2F2 cause congenital heart defects in humans

High - resolution maps of enhancer - promoter interactions in rare primary human T cell subsets and coronary artery smooth muscle cells link variants associated with autoimmune and cardiovascular diseases to target genes.

Researchers have identified disease - causing variants in about a quarter of human genes; many other variants are of uncertain significance.

For instance, a researcher interested in cardiovascular disease could access GTEx data to view all the genetic variants in the human genome that affect gene expression in the heart.

These variants are ubiquitous in human DNA, and researchers working in human genetics have carried out studies which have been able to show how these relate to disease susceptibility as well as traits such as height.

In addition, recent genome - wide association studies have identified several hundred common genetic variants — inherited changes in the DNA sequence of the human genome — that play a role in an individual's susceptibility to complex human illnesses such as heart disease, mental illnesses, cancer and diabeteIn addition, recent genome - wide association studies have identified several hundred common genetic variants — inherited changes in the DNA sequence of the human genome — that play a role in an individual's susceptibility to complex human illnesses such as heart disease, mental illnesses, cancer and diabetein the DNA sequence of the human genome — that play a role in an individual's susceptibility to complex human illnesses such as heart disease, mental illnesses, cancer and diabetein an individual's susceptibility to complex human illnesses such as heart disease, mental illnesses, cancer and diabetes.

This program has resulted in the discovery of unique variants in environmentally responsive genes, the development of a number of resources, and capacity building in the environmental epidemiology communities in order to incorporate gene - environment hypotheses and tools into human population - based studies on a number of environmentally relevant diseases.

In support of this concept, we have shown that mtDNA mutations accumulate in proportion to life span in several animals, that increasing mitochondrial anti-oxidant defense systems extends lifespan, that ancient human mtDNA variants that modify energy production and oxygen radical production can modulate longevity and risk for neurodegenerative diseases, and that patients with the neurodegenerative disease, Alzheimer Disease, have increased mtDNA mutationIn support of this concept, we have shown that mtDNA mutations accumulate in proportion to life span in several animals, that increasing mitochondrial anti-oxidant defense systems extends lifespan, that ancient human mtDNA variants that modify energy production and oxygen radical production can modulate longevity and risk for neurodegenerative diseases, and that patients with the neurodegenerative disease, Alzheimer Disease, have increased mtDNA mutationin proportion to life span in several animals, that increasing mitochondrial anti-oxidant defense systems extends lifespan, that ancient human mtDNA variants that modify energy production and oxygen radical production can modulate longevity and risk for neurodegenerative diseases, and that patients with the neurodegenerative disease, Alzheimer Disease, have increased mtDNA mutationin several animals, that increasing mitochondrial anti-oxidant defense systems extends lifespan, that ancient human mtDNA variants that modify energy production and oxygen radical production can modulate longevity and risk for neurodegenerative diseases, and that patients with the neurodegenerative disease, Alzheimer Disease, have increased mtDNA mutdisease, Alzheimer Disease, have increased mtDNA mutDisease, have increased mtDNA mutations.

The researchers noted that the mouse results may have implications for human health as well, as they also found an E. coli variant with the suspect genes in high percentages of human patients with colorectal cancer and irritable bowel disease.