|Our laboratory studies the molecular and cellular basis of cystic fibrosis (CF), a common human genetic disease. Cystic fibrosis is caused by defects in a single gene, which has been cloned sequenced, and expressed. The gene product, CFTR, is a small conductance chloride and bicarbonate channel. Our research projects look at the disease at every level from individual nucleotide changes in DNA to the functioning of individuals who have cystic fibrosis.|
|We attempted to develop model systems that
be useful for developing therapies for cystic fibrosis. We proposed a
using the human sinuses, which has been adopted as the methodology for
the first CF gene therapy trials at Stanford. We are now developing a
method for finding natural animal models of recessive genetic diseases.
The method is being tested by searching for a primate model of CF.
The chromatograms to the right show an example
of a missense
mutation located in exon 20 of the Rhesus monkey CFTR. Top:
sequence, note TCAGATC
near the middle of the sequence. Bottom: the animal is
for a G/C
at the normal G position.
This work is on hold pending studies of CF
pigs and the expected development of CF ferrets, each of which are
expected to have special advantages for studyin CF airway disease.
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