Sentences with phrase «variants in a specific gene»

In contrast to traditional genetic testing, which usually checks for variants in specific genes, high - throughput sequencing has the potential to reveal a number of secondary findings, i.e., genetic variants with medical relevance but not related to the condition that merited the test.

Following up on findings from a an earlier genome - wide association study (GWAS) of type 2 diabetes (T2D) in Latinos, researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) traced an association detected in that study to variants in a specific gene, SLC16A11, and uncovered two distinct mechanisms by which those variants disrupt the gene's function in liver cells, possibly contributing to the pathogenesis of T2D.

Not exact matches

The results, still in a preliminary stage, show that patients with a specific variant in the RET gene - a proto - oncogene or cancer driver gene; variant G2071A - could be more sensitive to this drug.

The study, which is published in the journal Molecular Psychiatry, describes a possible mechanism for how the gene variant produces clinical symptoms by affecting levels of specific proteins in the brain.

Reviewing thousands of genome wide associate studies (GWAS) to identify genetic variants in single nucleotide polymorphisms (SNPs), investigators at Dartmouth's Norris Cotton Cancer Center found that some alleles (one of a pair of genes located on a specific chromosome) are more frequently risk - associated with disease than protective.

The new test uses a highly sensitive gene mutation detection method that is based on the partitioning of DNA into droplets to detect specific circulating tumor DNA mutations and RNA variants in whole blood.

«Once we had discovered 120 new variants, we started testing them and, lo and behold, some were significantly better in terms of gene transfer efficiency to specific tissues and organs,» Wilson says.

More than one quarter of children with two copies of a high - risk variant in a specific group of genes develop an early sign of celiac disease called celiac disease autoimmunity (CDA) by age 5.

«What we found is that if people have a specific polymorphism in the BDNF gene, they recovered to a greater extent than those with a different variant of the gene.»

A new variant of the gene - editing CRISPR / Cas9 system is safer and more specific than versions previously used in early research towards a treatment for Huntington's disease, shows research published today in Frontiers in Neuroscience.

Researchers suspect an autoimmune reaction is to blame because many people who develop narcolepsy — and just about everyone with the vaccine - associated form — have a specific variant in a gene in the HLA family, which helps the body distinguish its own proteins from those made by microbial invaders.

There's also a genetic component: The condition, which can occur at any age, often runs in families and specific gene variants have been linked to it.

Targeted gene therapies, however, had to wait for (1) the identification of the genes to target, (2) the cloning and / or sequencing of the relevant genes and in some cases, the specific disease - causing variant, (3) a full understanding of the normal gene function and regulation, and (4) the development of efficient ways to deliver genes to the relevant tissues at therapeutic levels.

Her dissertation looked at whether variants in the PSA gene — that is, the gene that codes for the PSA (prostate specific antigen) protein doctors use as a screen for the existence or recurrence of prostate cancer — had any influence on developing the cancer.

Reykjavik, ICELAND, 12 October 2011 — deCODE genetics today announced that it has entered into a research collaboration with Pfizer Inc., the objective of which is to discover sequence variants associated with specific clinical phenotypes related to Systemic Lupus Erythematosis by utilizing deCODE's expertise in gene discovery.

Some sleep disorders may be tied to specific genetic variants in the genes underlying the circadian rhythms, which may lead to new ways of treating those disorders.

The alliance will initially focus on the development, validation and commercialization of specific diagnostic tests for variants in genes involved in three disease - related pathways:

Developed in collaboration with the Laboratory Medicine, Information Technology and Health Science Research departments of Mayo Clinic Geneticist Assistant NGS Interpretative Workbench, is a web - based tool for the control, visualization, interpretation and historical knowledge base of next generation sequencing data targeted at specific genes for the purpose of identifying potentially pathogenic variants associated with specific conditions such as hereditary colon cancer.

Specific variants of one or both of these genes, which play a role in the body's immune responses, have been found in 74 percent of AMD patients who were studied.

Studying a specific type of genetic variation in the DNA sequences of wolves and domestic dogs - called Single Nucleotide Polymorphisms (SNPs)- the scientists identified the transfer of dog gene variants into wolf genomes.

It's a complicated picture, to be sure, but it suggests some specific areas in which noncoding variants are exerting a cis - regulatory effect on the LPA gene.

Differences in the DNA sequence at a specific location in a gene are called variants, or alleles.

Saturday, Oct. 21, 11:20 - 11:40 a.m., South Hall B, South Building Featured Plenary Abstract: Massively parallel reporter assays combined with cell - type specific expression quantitative trait loci profiling identified a functional melanoma risk variant in HIV - 1 inhibitor gene, MX2 J. Choi, National Cancer Institute, et al

The polymorphism, located in a gene called PYHIN1, was not present in European - Americans and may be the first asthma susceptibility gene variant specific to populations of African descent.

By looking at your specific allelic variants of your HLA family of genes, genetic testing can help you determine if genetics play a role in your gluten sensitivity.

Dear Roger Williams wasn't aware of this fact when he wrote the Biochemical Individuality book I described above (although he hypothesized about a genetic influence on propensity to thrive on specific diets), but variants of these genes are now known to hinder or help absorption or the efficient use of nutrients in foods, which means that — depending on your genetic makeup, microbiota, health history and living environment — you should consume more or less folate, choline, vitamin C, fatty acids, starches, caffeine and beyond.

In July, lifestyle DNA tests inched closer to mainstream with the launch of Helix, a first - of - its - kind marketplace for personal genome products: For $ 80, Helix will use a saliva sample to sequence 22,000 of your genes, unlike other at - home DNA tests, which look for specific gene variants.)

And she also talked about a recent example in which they helped determine that a specific gene variant was likely not responsible for pancreatic cancer.

The widely used strategy of allele association investigates correlations of gene variants with phenotypes, i.e., it probes if individuals with a trait of interest carry a specific gene variant more frequently than individuals in a control group (case - control studies).

CONCLUSIONS: Early - onset antisocial behavior in a high - risk clinical group is predicted by a specific COMT gene variant previously linked with prefrontal cortical function and birth weight, and those possessing the val / val genotype are more susceptible to the adverse effects of prenatal risk as indexed by lower birth weight.