ID
46171
Description
Principal Investigator: Garry R. Cutting, MD, Johns Hopkins Medical Institutes, McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, USA MeSH: Cystic Fibrosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000556 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. Cystic fibrosis (CF) patients without detectable disease-causing mutations in CFTR present a clinical phenotype very similar to, but possibly discrete from, classic CF. We hypothesize that the phenotype of these atypical CF patients is not due only to mutations in the carbonic anhydrase gene CA12 or in the genes encoding the epithelium sodium ion channel ENaC, but is due to mutations in novel genes that have yet to be associated with CF. The goal of this study is to determine the molecular etiology of this atypical CF.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000556
Keywords
Versions (2)
- 11/2/22 11/2/22 - Simon Heim
- 1/29/25 1/29/25 - Akane Nishihara
Copyright Holder
Garry R. Cutting, MD, Johns Hopkins Medical Institutes, McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, USA
Uploaded on
January 29, 2025
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000556 NHLBI GO-ESP: Family Studies (Atypical Cystic Fibrosis)
Eligibility Criteria
- StudyEvent: dbGaP phs000556 NHLBI GO-ESP: Family Studies (Atypical Cystic Fibrosis)
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
- Subject ID, family ID, mother ID, father ID, and sex of participants with or without cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants affected or not affected with cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
- Subject ID, age, sex, race, and current status of subjects affected or not affected with cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
- Sample ID, sample source, sample source ID, analyte type, and type of analysis of participants affected or not affected with cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
Similar models
Eligibility Criteria
- StudyEvent: dbGaP phs000556 NHLBI GO-ESP: Family Studies (Atypical Cystic Fibrosis)
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
- Subject ID, family ID, mother ID, father ID, and sex of participants with or without cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants affected or not affected with cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
- Subject ID, age, sex, race, and current status of subjects affected or not affected with cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
- Sample ID, sample source, sample source ID, analyte type, and type of analysis of participants affected or not affected with cystic fibrosis and involved in the "Johns Hopkins Medical Institutes (JHMI) Molecular Genetics of Atypical Cystic Fibrosis (CF) Study" project.
C4746589 (UMLS CUI [1,2])
C1709770 (UMLS CUI [1,3])
C5208133 (UMLS CUI [1,4])
C0086282 (UMLS CUI [1,5])
C3897171 (UMLS CUI [1,6])
C1413041 (UMLS CUI [1,2])
C0026882 (UMLS CUI [1,3])
C0384156 (UMLS CUI [1,4])
C1711351 (UMLS CUI [1,5])
C0681842 (UMLS CUI [1,6])
C3816499 (UMLS CUI [1,7])
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