Cystic Fibrosis

Are you ready to explore baby's genome?

When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests. Most of the time, you never hear about the results ...

15 hours ago
popularity3 comments 0

Why bad genes aren't always bad news

We usually think of mutations as errors in our genes that will make us sick. But not all errors are bad, and some can even cancel out, or suppress, the fallout of those mutations known to cause disease. Little is known about ...

Nov 03, 2016
popularity47 comments 0

Cystic fibrosis and diabetes link explained

Many people with cystic fibrosis develop diabetes. The reasons for this have been largely unknown, but now researchers at Lund University in Sweden and Karolinska institutet have identified a molecular mechanism that contributes ...

Jun 02, 2014
popularity0 comments 0

Cystic fibrosis (also known as CF or mucoviscidosis) is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions.

The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. Other symptoms, including sinus infections, poor growth, diarrhea, and infertility affect other parts of the body.

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive inheritance.

CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF.

The World Health Organization states that "In the European Union 1 in 2000-3000 newborns is found to be affected by CF".

Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

Study reveals why cancer cells spread within the body

Each day, more than 1,600 people die from cancer in the US, and 450 in the UK, mostly because the disease has spread beyond a stage when surgery is an effective cure and has become resistant to therapy. Despite decades of ...