Wednesday April 28, 2010
According to a recent report published by the University of Alabama at Birmingham, researchers are closer to finding a drug that will treat cystic fibrosis.
Cystic fibrosis is caused by genetic "nonsense mutations" that disrupts the way the human cells make protein.The new drug, called ataluren, is said to fix the disruption by allowing the protein to be made in mouse cells where it was previously not present.
According to researchers at UAB, the drug will also be used to treat over 2,400 other genetic diseases that are caused by "nonsense mutations."
"When you treat a genetic disease, the bottom line is how much of the missing protein do you need to restore to have a therapeutic benefits," researcher David Bedwell, a professor in the microbiology department at UAB, said in a university news release.
"It comes down to the threshold of protein rescue. For some diseases, it might be 1 % of the protein you need restored, and for other disease you may need 50 % of protein restored," he explained.
Bedwell found that ataluren restored up to 29 % of normal protein function in mice with cystic fibrosis. The drug is currently being tested on humans.
Thursday February 18, 2010
A research team from the University of California, San Diego School of Medicine found defective signaling for a protein called the peroxisome proliferator-activated receptor-γ (PPAR-γ) accounts for a portion of disease symptoms in cystic fibrosis, and that correction of the defective pathway reduces symptoms of the disease in mice.
These finding could lead to new therapeutic targets for patients with the cystic fibrosis.
Cystic fibrosis is the most common, potentially lethal genetic disease among whites, occurring in one in 3,000 births. The disease is a multisystem condition that leads to progressive lung failure, pancreatic failure and gastrointestinal obstruction, or blockage.
"Cystic fibrosis results from a genetic mutation in a channel, or membrane pore, that facilitates the transport of chloride and bicarbonate electrolytes from inside the cell to the spaces outside the cell," lead investigator Dr. Gregory Harmon told ScienceDaily. "Loss of the cystic fibrosis pore channel results in inflammation and mucus accumulation. It also results in dehydration of the cell surfaces that make up the lining spaces inside the lungs and other affected organs, such as the intestinal tract."
The study was published in the Feb. 14 edition of the journal Nature Medicine.
Sunday January 31, 2010
Each year the Elizabeth Nash Foundation, a non-profit organization run by the family members of a geneticist who had cystic fibrosis (CF), honors Elizabeth's memory by awarding scholarships to young people in the United States with CF who want to pursue an education. The foundation is now accepting applications for the 2010-2011 school year, and must be submitted by April 5th.
More information about Dr. Nash, the foundation, and the scholarship.
More resources for financial assistance
Sunday January 24, 2010
Last month, the Journal of American Medicine published the report of a study in Italy that showed when couples were offered carrier screening for cystic fibrosis (CF), the number of babies born with CF decreased. When I first read the report, I thought "Well, that's a no-brainer". After all, couples who know they are carriers they will probably choose not to have children, right?
But then I thought about it for a while and realized that it really isn't that cut and dry. The more I think about it, the more I wonder how big a role CF carrier screening plays in a couple's decision of whether or not to have kids. What's more, I wonder how much of a role it should have.
Now I'm all for offering carrier screening, don't get me wrong. It provides useful information and allows couples to be prepared for the possibility that their children will have CF. I'm just saying that it may not be enough information to warrant a couple's decision not to have children. When both parents are carriers, their child has a 25% chance of having CF. That's a 75% chance that the child won't have CF. Even if the child does have CF he may live a long, happy productive life as many with CF do these days. What do you think? Does carrier screening decrease the number of kids born with CF? If you and your partner tested positive as carriers, would it affect your decisions about having kids?
Share your thoughts