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.
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.
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.
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?
Today we remember a man who had a dream. A dream so big that if it ever came to fruition, lives would be forever transformed. A far-reaching dream that - crazy as it may have seemed - shone like a beacon of hope for a better day and a better life for thousands of people who suffered unspeakable injustices. A far-fetched dream that has now become reality.
Martin Luther King dreamed big, and he put his dreams into action. No matter how dismal the situation seemed in Dr King's day, he did not give up hope that someday his efforts - and the efforts of others that shared his dream - would pay off. He was right.
In many ways, our dreams for a cure for cystic fibrosis are not unlike Martin's dreams. They are big, far-reaching dreams laced with hope and the potential to change thousands of lives. Thankfully, our dreams for a cure are not far-fetched. Through the actions of the many dreamers who have raised awareness, raised funds, and explored solutions in research laboratories around the world, we are closer to a cure now than ever before, and unlike Dr King, we may even see the dream become reality in our lifetime.
It's been a long bumpy road to FDA approval for Azli, Gilead Sciences' inhaled version of the antibiotic aztreonam. The journey's not over yet, but thanks to the recommendations of an FDA advisory panel we're one step closer.
Last year, the FDA denied Gilead's application for Azli, citing the need for further study. Gilead submitted further data, and last week an FDA advisory committee determined that there is sufficient evidence to support Azli's safety and effectiveness. The committee recommended FDA approval of Azli for treatment of Pseudomonas aeruginosa in people with cystic fibrosis.
The committee recommendation does not guarantee an approval from the Feds, but the FDA will take the recommendation into consideration when they meet to review the application in February 2010.
More about Pseudomonas aeruginosa
Thanks to Miley Cyrus and her new tattoo, the world is talking about cystic fibrosis. True, much of the chatter is centered on a debate of whether Miley's newly acquired "Just Breathe" tattoo is real or fake. I don't get caught up in that debate. Frankly, I don't really care. I just think it's great that cystic fibrosis, a disease that many people have never even heard of, is a household word right now since Miley is sporting a phrase beneath her breast that is often connected with cystic fibrosis. Since awareness is a key element in finding a cure, we owe this pop star a debt of gratitude. Thanks, Miley.
More about cystic fibrosis
It can be pretty tough to make ends meet these days. Many folks are cutting corners and learning to get by with a lot less. Recreation is often one of the first expenses to get cut, but staying active is so important for those with cystic fibrosis - even in this struggling economy. If finances are keeping you from getting involved in activities, I've got some good news for you. The Cystic Fibrosis Lifestyle Foundation is offering $500 recreation grants to young adults with CF, and you may be eligible to receive one.
Visit the Cystic Fibrosis Lifestyle Foundation website for more details on the grant, or to download an application.
Earlier this year, I told you about a voluntary recall of Tylenol products because of possible contamination with Burkholderia cepacia. Now, I'm going to ask you all to check your medicine cabinets again. Last Thursday, Proctor & Gamble issued a voluntary recall of three lots of Vicks Sinex Nasal spray sold in the United States, United Kingdom, and Germany because B. cepacia was found in some of the product that was manufactured in Germany but being sold in the United States. The German and UK lot numbers are being recalled and undergoing testing because they were made from the same raw ingredients as the contaminated US lot.
The lot numbers and products being recalled are:
9239028831 ( United States) - Vicks Sinex Vapospray 12-Hour Decongestant Ultra Fine Mist, 15 ml
9224028832 (United Kingdom) - Vicks Sinex Micromist Aqueous Nasal Spray Solution, 15 ml
9224028833 (Germany) - Wick Sinex Schnupfenspray Dosiersystem, 15 ml
If you find that you have any of the recalled products, do not use them. Visit Proctor and Gamble for information about how to get a refund or replacement.
More about B. Cepacia
If you're wondering what's new in the world of cystic fibrosis research, or if you're wondering how you can get involved with a clinical study, you won't want to miss the Cystic Fibrosis Foundation's upcoming webinar, "CF Clinical Research: Learn, Ask, Join".
The webcast, which is scheduled for November 19th, will feature basic principles of cystic fibrosis research, participation in clinical trials, and the latest updates about cystic fibrosis drugs currently being studied. The webinar is free but you have to pre-register on the CFF website.