Cystic Fibrosis - a brief outline

The mutation Delta 508 in Cystic Fibrosis is a three nucleotide deletion resulting in a single amino acid being missing in the cystic fibrosis transmembrane conductor regulator (CFTR) protein.
This small variation requires analysis of the gene sequences by a molecular geneticist.

On Chromosome 7, The cystic fibrosis transport regulator. Sodium Chloride transporter found on the surface of cells lining lungs and other organs, Mutations cause Cystic Fibrosis,  - the most common autosomal recessive disorder among white populations - affecting about 1 in 3000 people. About 1 in 30 people are carriers.

Cystic Fibrosis faces many hurdles - John Schiezer - Reuters -    04/06/01

With reference to possible genetic therapy for Cystic Fibrosis.

"I don't think cystic fibrosis is anywhere close," said Dr. Savio Woo, who is the director for the institute for Gene therapy at Mount Sinai School of Medicine in New York. "It is one of those early genetic diseases people were very hopeful that we would have an effect, and mainly because it is a major genetic disease. But the tissues where it manifests the disease, in terms of gene delivery, has proven to be particularly difficult."

It seems unlikely that there will be any quick solution. Even the idea that within five years of the discovery of a gene that a treatment might be available seems unlikely according to leading geneticists in the field.


This is a page from created by A. J. Palmer.
This page was updated on 2nd December 2002