Sentences with phrase «causes cystic fibrosis»

Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder.
THE mutant gene that causes cystic fibrosis came to Europe with the first modern humans, more than 50 000 years ago, claims an evolutionary biologist.
In 1989 when scientists discovered the defective gene that causes cystic fibrosis, a serious hereditary disorder that primarily strikes children of European descent, it seemed as though a long - hoped - for cure might soon follow.

Not exact matches

Mr. Brickman and his wife, Patrice, are involved in many philanthropic causes, including Neediest Kids and Visible Men, where Mr. Brickman sits on the Board, the National Center for Women and Children, Stepping Stones Shelter, the Barbara Bush Foundation Celebration of Reading and the Cystic Fibrosis Foundation.
Matchbox also donates money to a variety of causes including cystic fibrosis and the No Kid Hungry campaign in Florida.
«If we could use gene editing to remove the sequences in an embryo that cause sickle cell disease or cystic fibrosis, I would say not only that we may do so, but in the case of such severe diseases, we have a moral obligation to do so.»
Pseudomonas aeruginosa is usually harmless to humans, but in people with cystic fibrosis (CF) or who have weakened immune systems — such as those who have had an operation or treatment for cancer — it can cause infections that are resistant to antibiotics.
«P. aeruginosa biofilm infections are a leading cause of death for people suffering from cystic fibrosis, a genetic condition that affects the lungs and the digestive system,» said Principal Investigator Lars Dietrich, an associate professor of biological sciences.
The bacteria, Burkholderia cenocepacia, are highly antibiotic resistant and cause severe lung infections in people with cystic fibrosis.
When conventional wisdom said only gene therapy could correct the root cause of cystic fibrosis, Vertex developed pill - based treatments that address the underlying disease mechanism, says Altshuler.
Cystic fibrosis, achondroplasia, phenylketonuria and Huntington's disease are each caused by simple changes in the sequence of a single gene.
He is head of a team currently developing a similar type of test that identifies Pseudomonas aeruginosa, a bacterium that often causes infections in people with cystic fibrosis.
McCauley's interest is cystic fibrosis, a disease caused by mutations in a single gene, CFTR.
«Because airway spheres from a patient with cystic fibrosis do not swell in our assay but airway spheres from a healthy person do, we can see whether adding a certain drug or combination of drugs causes them to swell more.
In cystic fibrosis, a serious genetic disease that causes recurring lung infections, bacteria colonize a patient's lungs, usually beginning in childhood, leading to difficulty breathing.
Around one in 2,500 children in the UK is born with cystic fibrosis, a hereditary condition that causes the lungs to become clogged up with thick, sticky mucus.
A multi-drug resistant infection that can cause life - threatening illness in people with cystic fibrosis (CF) and can spread from patient to patient has spread globally and is becoming increasingly virulent, according to new research published today in the journal Science.
Once limited to burn wounds, P. aeruginosa now causes severe hospital - acquired infections and persistent lung infections in cystic fibrosis patients.
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 worlCystic 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 worlcystic fibrosis transmembrane conductance regulator (CFTR) and affects 1 in every 2500 newborns in the UK and over 90000 people worldwide.
On the other end of the spectrum are Mendelian diseases such as cystic fibrosis and sickle - cell anemia, which are caused by abnormalities to a single gene.
This leads to recurrent life - threatening lung infections, which result in lung damage that causes 90 % of deaths in people with cystic fibrosis.
New research has identified new molecules that could help in the fight to prevent diseases caused by faulty ion channels, such as cystic fibrosis.
AT THE start of the 1980s, we knew almost nothing about the cause of cystic fibrosis (CF), the common hereditary disorder.
This is a significant step toward real biomedical application of anion transporters in the battle against cystic fibrosis and other diseases caused by faulty ion channels.»
Defective ion channels are the underlying cause of many diseases, notably cystic fibrosis, in which the transport of chloride ions is impaired.
It is most commonly caused by a mutation in the cystic fibrosis gene known as F508del.
It is a landmark moment: 22 years after the cystic fibrosis gene was discovered, some patients are about to receive a drug called Kalydeco to treat the defect that causes their lungs to clog up with sticky mucus.
Over the next few years, similar maternal blood tests could detect hundreds of diseases caused by chromosome abnormalities or mutations, including cystic fibrosis, sickle cell anemia, Tay - Sachs disease, and genetic deafness and blindness.
He benefits from a medication that targets the underlying cause of the disease for a small subset of cystic fibrosis patients.»
Most researchers have focused on single changes in DNA base pairs (AT and CG) that cause fatal diseases, such as cystic fibrosis.
The first of many probable applications will likely be the chronic bacterial infections in the lungs of cystic fibrosis patients «that frequently develop resistance to all standard antibiotics, and are the leading cause of death in these patients,» says senior author Ronald Montelaro.
They want to find healthy individuals who have genetic mutations that usually cause serious disease in those who carry them, such as those for the lung disorder cystic fibrosis.
Pseudomonas aeruginosa is a common disease - causing bacterium that typically infects people with weakened immune systems, for example, people with cystic fibrosis or those undergoing cancer therapy.
A DRUG has improved lung function in children with cystic fibrosis, raising hopes that the life - threatening damage caused by the genetic disease can be halted or even reversed.
Little was known about the cause of cystic fibrosis in the 1970s, when Francis Collins, now head of the National Institutes of Health (NIH), took an interest in the disease.
Now the researchers plan to investigate whether diseases such as bronchitis or cystic fibrosis are caused by the disruption of the two proteins» partitioning.
Cystic fibrosis is a hereditary disease caused by mutations in a single gene called CFTR.
«Inhibiting DGKi seems to reverse the effects of cystic fibrosis, but not block ENaC completely,» says Margarida Amaral from the University of Lisboa, «indeed, inhibiting DGKi reduces ENaC activity enough for cells to go back to normal, but not so much that they cause other problems, like pulmonary oedema.»
Cystic fibrosis causes the buildup of thick mucus that can clog airways and lead to dangerous infections.
Most mutations are neutral, having no effect on gene function; others are harmful, such as the ones that cause inherited diseases like cystic fibrosis.
Ivacaftor is the first drug to treat the underlying causes of cystic fibrosis rather than just its symptoms and is currently approved for patients with the «celtic gene» mutation carried by about four per cent of all patients and 10 - 15 per cent of patients in Ireland.
«People with cystic fibrosis have an imbalance of salt in their bodies caused by the defective CFTR protein,» said Talissa Altes, M.D., chair of the Department of Radiology at the MU School of Medicine and lead author of the study.
Together, these communication and defense capabilities allow P. aeruginosa to form tightly packed layers called biofilms, which can cause respiratory tract infections in humans and are particularly dangerous to cystic fibrosis patients.
That's bad news for cystic fibrosis patients, as these bacteria cause infection.
One situation that could meet the report's criteria would be if both parents have the same disease, such as cystic fibrosis, that is caused by carrying two copies of a mutation, the report says.
Improperly formed proteins can cause a host of serious illnesses, from muscular dystrophy to cystic fibrosis.
For example, specially targeted phages have been suggested as a possible therapy for conditions like cystic fibrosis, which is caused by frequent bacterial lung infections.
Pseudomonas aeruginosa can cause serious inflammations of the skin and the lung in patients with a weakened immune system, particularly in those suffering from the genetic disorder cystic fibrosis.
Yet even knowing exactly which mutated gene causes a disease — as in Huntington's and cystic fibrosis — doesn't necessarily mean it is either preventable or curable.
Rhinovirus C infections are also a major contributor to poor outcomes for people with chronic lung conditions like cystic fibrosis, and early exposure to the virus can cause lifelong lung scarring leading to persistent respiratory difficulties later, says Palmenberg.
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