Sentences with phrase «mutation in a single gene»

Many are known to be caused by mutations in single genes, yet for the vast majority no treatments are available.

Cystic fibrosis is a rare inherited disease caused by mutations in a single gene called cystic fibrosis transmembrane conductance regulator (CFTR) and affects 1 in every 2500 newborns in the UK and over 90000 people worldwide.

Unlike rare diseases, which typically stem from mutations in a single gene, common diseases emerge from mutations in multiple genes, sometimes tens or even hundreds of them.

In 1971, Seymour Benzer and Ronald Konopka (both now deceased and ineligible for the Nobel Prize) found that fruit flies with mutations in a single gene called period had disrupted circadian rhythms, which caused the flies to move around at different times of day than normal.

Cancer is rarely the result of a single mutation in a single gene.

In a study of longevity in the adult fruit fly, Drosophila melanogaster, we found that five independent P - element insertional mutations in a single gene resulted in a near doubling of the average adult life - span without a decline in fertility or physical activity.

Rockefeller's Jean - Laurent Casanova has identified mutations in a single gene that may explain what goes wrong in cases of encephalitis of the brain stem, the part of the brain that controls many basic functions including heart rate and breathing.

Newman, Phillips and their colleagues, including Rizwan Hamid, M.D., Ph.D., Joy Cogan, Ph.D., and James West, Ph.D., discovered that most of the cattle with high - altitude pulmonary hypertension had a double mutation in a single gene that expresses hypoxia inducible factor, HIF2alpha.

To find other genes involved in tolerance, Heberlein and her team intoxicated 400 flies, each with a random mutation in a single gene.

If a heritable mutation in a single gene is found to be primarily to blame for one of these diseases, doctors might be able to develop more effective treatments.

Cystic fibrosis is a hereditary disease caused by mutations in a single gene called CFTR.

DMD originates with mutations in a single gene.

Take cystic fibrosis, a genetic disease that creates a life - threatening accumulation of mucus in the lungs and is known to result from a single mutation in a single gene.

This suggested that obesity in both obese and db mouse strains resulted from a mutation in a single gene in each case.

A rare condition that causes a person be born without fingerprints can now be explained by a mutation in a single gene, a new analysis suggests

SMA1 is a progressive, childhood, neuromuscular disease caused by a mutation in a single gene.

Unlike other autoimmune disorders with associated risk factors, APECED is clearly caused by a mutation in a single gene, based on analyses of affected families.

McCauley's interest is cystic fibrosis, a disease caused by mutations in a single gene, CFTR.

Currently we are developing non-invasive tests for other conditions caused by mutations in a single gene, including cystic fibrosis, sickle cell anemia, and beta - thalassaemia.

«In the early years, cancer researchers focused on mutations in single genes, but then it became apparent that different mutations in a class of genes were driving the disease process,» he said.

A mutation in a single gene produced extra sweat glands in Asian people's skin, perhaps to help them keep cool in the warm and humid climate

Fragile X, which is caused by a mutation in a single gene on the X chromosome, affects about 1 in 4,000 men and 1 in 6,000 women.

The work, which is described in Nature on August 2, 2017, is a collaboration between the Salk Institute, Oregon Health and Science University (OHSU) and Korea's Institute for Basic Science and could pave the way for improved in vitro fertilization (IVF) outcomes as well as eventual cures for some of the thousands of diseases caused by mutations in single genes.

A study of inbred families has revealed that a mutation in a single gene is the driving force behind a «sporadic» heart disorder, says a US team.

Huntington's disease (HD) is a rare inherited degenerative disorder of the brain that is caused by a mutation in a single gene; each child of an HD - affected parent has a 50 % risk of inheriting the mutated gene and eventually developing the disease.

Professor Cattaneo's laboratory works on Huntington's Disease, a brain neurodegenerative disease caused by the mutation in a single gene.

SMA1 is a devastating, progressive neuromuscular disease in infants caused by a mutation in a single gene, SMN.

About Spinal Muscular Atrophy Spinal Muscular Atrophy is a genetic, motor neuron disease caused by mutations in a single gene, SMN1.

The tool, in particular, could be ideal for both these diseases, scientists think, because each is caused by mutations in a single gene that makes hemoglobin, the protein in the red blood cells that transports oxygen throughout the body.

Earlier cases of resistance were largely due to mutations in single genes — trump cards that immediately made for invincible parasites.

In humans, PKD is one of the most common diseases caused by a mutation in a single gene.

Research on the CREB gene emphasizes the reductionist approach, in which elements of the complex phenomenon of memory formation are reduced to mutations in a single gene and studied in a simple model system, the fruit fly Drosophila

The most common genetic killer of infants, a disease known as spinal muscular atrophy, is caused by mutations in a single gene.

Among the specific findings is the confirmation that mutations in a single gene, TP53, are present in more than 96 percent of all such cancers.

AGTC's lead product candidates focus on rare diseases of the eye, caused by mutations in single genes, that significantly affect visual function and currently lack effective medical treatments.