It is most commonly caused by a mutation in the cystic
fibrosis gene known as F508del.
Not exact matches
Prospective parents who may be carriers of a genetic disorder, such as Tay - Sachs disease or Cystic
fibrosis, can
know for certain by having their own
genes tested.
Researchers at UT Southwestern Medical Center have identified mutations in two
genes that cause a fatal lung scarring disease
known as familial pulmonary
fibrosis.
Yet even
knowing exactly which mutated
gene causes a disease — as in Huntington's and cystic
fibrosis — doesn't necessarily mean it is either preventable or curable.
The condition is more common than muscular dystrophy and cystic
fibrosis, but the development of new therapeutic concepts is hindered by the fact that unlike muscular dystrophy and cystic
fibrosis, where a single mutated
gene causing the disease is
known, the entire human chromosome 21 (containing around 300
genes) still has to be dissected into individual
gene - dose contributions to the DS symptoms.
More and more scientists are using the powerful new
gene - editing tool
known as CRISPR / Cas9, a technology isolated from bacteria, that holds promise for new treatment of such genetic diseases as cystic
fibrosis, muscular dystrophy...
Woodward is most
known for discovering a genetic marker used for the identification of carriers for and the eventual discovery of the
gene for cystic
fibrosis, according to his biography.
Take cystic
fibrosis, a genetic disease that creates a life - threatening accumulation of mucus in the lungs and is
known to result from a single mutation in a single
gene.