Wednesday, April 4, 2012

Personalized Medicine for Cystic Fibrosis Patients

Cystic fibrosis is the most common fatal genetic disease in the United States. Those with cystic fibrosis are faced with a life of deadly lung infections, persistant cough, and poor growth. Receiving the diagnosis is heart breaking for sufferers’ families, as only 47% of them will live past the age of 18.

Just recently, the FDA approved Kalydeco, a new drug to treat a specific subset of cystic fibrosis patients. This drug specifically targets the G551D mutation which is found in only 4% of CF sufferers. Although this is the minority of the population, it can be the difference between life and death. The G551D mutation creates a defective protein that fails to balance the absorbtion and secreation of water and chloride ions across cell membranes. This leads to the buildup of thick mucus in the lungs, digestive tract, and other internal organs, which in turn causes severe repiratory and digestive problems as well as infections and diabetes.

Kalydeco improves lung function and minimizes infection by restoring proper protein activity. It is the most effective medicine, because it addresses the root cause of cystic fibrosis, not just the symptoms. Children and adolescents who receive treatment are able to do sports or go away to college, which would be virtually impossible otherwise.

This is one of the first drugs made to target a specific genetic defect. Scientists have known about this faulty gene since 1989, but have only recently had the technology to treat it. As Kalydeco is ‘personalized’, it is not effective if a patient has a different mutation. However, it gives hope because there may soon be a treatment developed for their mutation also.

Video Interview:

Posted by Erica Fitzpatrick (1)


  1. The ability of scientists to treat a specific faulty gene is a very big step in healthcare. Through this development, other "personalized" medications can be produced. This would, as you say, treat the actual cause of the specific malady as opposed to the symptoms of different maladies. This is a less controversial example of "personal" medicines than my blog about mice avatars.

    Posted By Erica Bonnell (1)

  2. Although this specific drug can only treat a mutation that is present in 4% of users, this is a large step forward for medicine. The presence of this drug will hopefully soon lead to the advancement of additional medication that can significantly increase the lives of cystic fibrosis patients. Having witnessed the terrible affects of the disease, it would be wonderful and essential for the lives of these patients to find a cure, or even a medicine that can increase their lives.

  3. Like I've said before, it is always encouraging to read about new medical breakthroughs that will help save people's lives and hopefully save them from suffering. Even though its only 4%, as you mentioned it makes a huge difference in those lives.

    -Hermann Kam

  4. I agree that its great to see that this Many treatments for genetic disease only take care of symptoms.

    You mentioned that those medication is only for the 4% of CF sufferers that have the G551D mutation. Have they made other medications that take care of other mutations that cause CF? It seems that they would all work using similar principles.

    Posted by Joseph Frimpong

  5. As our understanding of genes grow, so does our control over it. It is super exciting to see that we now are able to stop maladies once though incurable. Here's hoping that this progresses to being able to cure a higher percentage of people suffering from CF.

    Mike Selden (3)