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The purpose of this study is to understand what genes may be responsible for the similarities or differences in severity of lung, sinus, liver or intestinal problems associated with cystic fibrosis (CF) between members of the same family. The underlying cause of CF is change in a gene called CFTR (cystic fibrosis transmembrane conductance regulator), but even people with the same change in the same family may have differences in severity of lung, sinus, liver or intestinal problems. Approximately 140 subjects (including twins, siblings and parents of siblings) will be studied at Children’s Hospital of Pittsburgh of UPMC.
Eligible participants include twins and siblings of all ages with a diagnosis of cystic fibrosis.
Boys: All ages
Girls: All ages
A blood sample will be taken and participants will be asked to complete a questionnaire regarding family history.
National Institutes of Health
Cystic Fibrosis Foundation
Joseph Pilewski, MD
To get started, please contact either:
Elizabeth Hartigan, MPH, RN, CCRC
Sandy Hurban, RN
Adrienne Horn, RN
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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