Sentences with phrase «gene mutation»

Researchers have identified the first gene mutation associated with Tourette syndrome - opening a new avenue for understanding the complex disorder that causes muscle and vocal tics.

Gene mutation passed on from long - extinct Neandertal «cousins» seems to help modern Tibetans survive at high altitudes

Some people, including women who test positive for a BRCA gene mutation, may be offered treatment options, such as preventive surgery, to reduce cancer risk.

A few years ago, Jolie had her breasts and ovaries removed after she found out she had a breast - cancer gene mutation that sharply increased her risk of cancer.

In SMA, we don't test routinely for the gene mutation before the disease manifests, because there is no treatment.

Scientists at the Gladstone Institutes linked a single gene mutation to two types of heart disease: one causes a hole in the heart of infants, and the other causes heart failure.

They show patterns of gene mutation and gene repair, as well as patterns of natural selection.

«Finding a SIRT3 gene mutation linked to metabolic syndrome is a big step towards developing treatments for this increasingly common collection of obesity - related illnesses,» said Dr. Verdin, who is also a UCSF professor of medicine.

Gladstone scientists discovered a way to enhance the efficiency of stem cell reprogramming with a gene mutation that causes «stone man syndrome.»

It is now known as the most common gene mutation in all cancers.

The town has the largest population of people with Alzheimer's in the world — about 5000 people have the gene mutation, half of whom are diagnosed by age 45.

«This study reveals what happens in the brain cells of people with a gene mutation that is known to cause frontotemporal dementia.

Johns Hopkins researchers say they have discovered some of the first steps in how a very common gene mutation causes the brain damage associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

The findings may provide insight into treatments that could postpone the death of neurons in people who carry the HD gene mutation, but who do not yet show symptoms of the disease.

Aung Ko Win, M.B.B.S., Ph.D., M.P.H., of the University of Melbourne, Victoria, Australia, and colleagues conducted a study that included 1,128 women with an MMR gene mutation identified from the Colon Cancer Family Registry.

Rather than being triggered by a single gene mutation, the tumors are caused by too many or too few copies of a gene in a person's cells.

Now scientists think they've found a gene mutation that's responsible for this «mirror movement» disorder.

For patients, this means that rather than thinking about the right drug for a certain disease, doctors will think about the right drug to treat the patient's specific gene mutation.

Our study sought to use a new way of imaging the lung to understand how well the drug is working in patients with a specific gene mutation known as G551D - CFTR.»

Apart from hysterectomy, there is no consensus recommendation for reducing endometrial cancer risk for women with an MMR gene mutation.

«This time we sequenced the families for this specific CLP1 gene mutation and all had it,» said Karaca.

In Yarumal and the surrounding state of Antioquia, 5000 people carry a gene mutation which causes early - onset Alzheimer's — half of them will be diagnosed by the age of 45, and the other half will succumb by the time they are 65.

«It also exposes practical concerns around gene patents, including access to the gene mutation for research and testing purposes,» she says.

Mice with a gene mutation linked to rare human cases of autism show a hallmark symptom of the disorder: impaired social interactions.

The work supports the idea that a single gene mutation could have produced trichromatic color vision and immediate changes in behavior, says Daniel Osorio, a vision scientist at Sussex University, U.K..

In a published paper last year, Gleeson and colleagues identified a different gene mutation for a particularly severe form of PCH, and reported early evidence that a nutritional supplement might one day be able to prevent or reverse the condition.

THE MOTIVE If a gene mutation hinders brain development, the resulting mental retardation is usually considered irreversible.

«Our technology successfully repairs the disease - causing gene mutation by taking advantage of a DNA repair response unique to early embryos» says Wu.

A simple blood test is currently in development that could help predict the likelihood of a woman developing breast cancer, even in the absence of a high - risk BRCA1 gene mutation, according to research published in the open access journal Genome Medicine.

Although another recent study found that a single gene mutation heightened the risk of obesity by up to 67 percent, genetics can not explain the skyrocketing obesity trend.

Now, two studies pinpoint the location and identity of the gene mutation — and reveal that the same gene also controls the colorful patterns in some butterfly wings.

SOME cases of anorexia may be caused by a gene mutation.

The findings push back the estimated timing of the FOXP2 gene's selective sweep (rapid spread of a gene mutation due to the survival advantage it conferred) from 200,000 to 350,000 years ago, when the common ancestor of Neandertals and humans roamed the earth.

First, white blood cells with a leukemia - promoting gene mutation become more sensitive to signs of inflammation.

The APOE4 trial builds on another trial of an anti-amyloid drug in 300 members of a Colombian family who carry a gene mutation that places them at high risk of developing an early - onset form of Alzheimer's disease.

Twenty years after he first stumbled on FOP, Economides and his colleagues report today that the gene mutation shared by 97 % of people with the disease can trigger its symptoms in a manner different than had been assumed — through a single molecule not previously eyed as a suspect.

Mount Sinai Researchers have just discovered that patients in the Ashkenazi Jewish population with Crohn's disease (a chronic inflammatory of the digestive system) are more likely to carry the LRRK2 gene mutation.

«It's a complex paper and very difficult to interpret in my opinion,» agrees Nicolas Lévy, head of molecular genetics at the Timone Children's Hospital in Marseille, France, who helped lead a group that identified the gene mutation behind progeria in 2003.

It is abnormal, but it's not caused by a gene mutation.»

And an incidental finding of a gene mutation or other abnormality may not always lead to a particular disease.

«This solves a long - running mystery of how a gene mutation damages the neurons that carry information from the spinal cord to our muscles, resulting in a range of sensory and movement problems,» says Samuel Pfaff, a neuroscience professor at the Salk Institute and one of the senior authors on the paper with Xiang - Lei Yang, a professor at TSRI.

The method, successfully tested in heart muscle cells from patients, offers an efficient alternative to the daunting task of developing an individualized molecular treatment for each gene mutation that causes DMD.

An international research group headed by the cardiologist Prof. Heribert Schunkert, medical director of the German Heart Center at TU Munich, has discovered a gene mutation that may significantly reduce the probability of suffering a heart attack.

Through genetic analysis, it has been possible to identify which gene is required for this behaviour and which protein the gene mutation affects.

Having identified the mechanism by which the gene mutation leads to neuropathy, the researchers tried amplifying the «health» signal to see if they could override the blockade of the mutant GlyRS molecules.

This study may provide insight for treatments that would be effective in slowing down or postponing the death of neurons for people who carry the HD gene mutation, but who do not yet show symptoms of the disease.

While the disease is caused by a single gene mutation, the manifestation of the disease at a molecular level is nevertheless highly complex and involves multiple cellular processes.

The research, the cover story of this month's Science Advances, builds upon previous studies from Dr. Olson in which CRISPR - Cas9 corrected a single gene mutation that caused DMD in mice.

In a similar case with a 12 - year - old whose exome was sequenced without any family data, Phevor built on the analysis of VAAST to identify a gene mutation causing the illness, another autoimmune syndrome.

By combining those factors, Phevor identifies an undiagnosed disease or the most likely candidate gene mutation for causing a disease.