ID
45471
Descripción
Principal Investigator: Michael Knowles, MD, University of North Carolina, Chapel Hill, NC, USA MeSH: Bronchiectasis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000518 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. The major goal of this project is to apply next generation resequencing technology to identify disease-causing variants that cause bronchiectasis of unknown etiology (e.g. non cystic fibrosis (CF), classic primary ciliary dyskinesia (PCD), immune deficiency, or any other known cause of bronchiectasis), i.e., "idiopathic bronchiectasis." As part of our ongoing efforts to define the genetic cause of rare lung diseases, we have also studied families in whom diagnosis of PCD or other known etiologies could not be confirmed. We have systematically collected and stored the DNA and phenotypic data on each of the families in our cohort. The phenotypic data includes age, gender, ethnicity information, clinical data pertaining to the airways disease, including neonatal respiratory distress, otitis media, sinusitis and bronchiectasis, ciliary ultrastructure analysis, and microbial colonization (status of nontuberculosis mycobacterium). During the course of our study, we have acquired 98 unrelated patients in whom bronchiectasis seemed to be of unknown causes. We will be using 11 unrelated patients, 5 unrelated affected sib-pairs, and 3 affected sibs from a family from this cohort, based on 1) development of bronchiectasis in the absence of smoking, 2) a good family pedigree with available DNA, and 3) a family history of bronchiectasis and/or occurrence of airways disease in a sibling. Classic CF, PCD and immune deficiency were ruled out, based on the tests described above. Alpha-1 antiprotease deficiency work up was negative and none of the patients were tobacco users or smokers.
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Versiones (2)
- 2/11/22 2/11/22 - Simon Heim
- 13/12/22 13/12/22 - Kristina Keller
Titular de derechos de autor
Michael Knowles, MD, University of North Carolina, Chapel Hill, NC, USA
Subido en
13 de diciembre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000518 NHLBI GO-ESP Family Studies: Idiopathic Bronchiectasis
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains subject IDs, consent group information and affection status of subjects with idiopathic bronchiectasis.
- This pedigree data table includes family relationships as indicated by family IDs, subject IDs, mother and father IDs, and twin IDs.
- The data table contains mapping of study subject IDs to sample IDs of subjects with idiopathic bronchiectasis. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- The subject phenotype data table includes sociodemographic information (n=3 variables; age, sex, and race) and clinical observations of ultrastructural ciliary diagnosis, neonatal respiratory distress, presence of otitis media, bronchiectasis, sinusitis, and nontuberculosis mycobacterium.
- The sample attributes data table includes sample analyte type (DNA or RNA), body site where sample was extracted, and the tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains subject IDs, consent group information and affection status of subjects with idiopathic bronchiectasis.
- This pedigree data table includes family relationships as indicated by family IDs, subject IDs, mother and father IDs, and twin IDs.
- The data table contains mapping of study subject IDs to sample IDs of subjects with idiopathic bronchiectasis. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- The subject phenotype data table includes sociodemographic information (n=3 variables; age, sex, and race) and clinical observations of ultrastructural ciliary diagnosis, neonatal respiratory distress, presence of otitis media, bronchiectasis, sinusitis, and nontuberculosis mycobacterium.
- The sample attributes data table includes sample analyte type (DNA or RNA), body site where sample was extracted, and the tumor status.
C0006267 (UMLS CUI [1,2])
C0743626 (UMLS CUI [1,3])
C0006267 (UMLS CUI [1,2])
C0205214 (UMLS CUI [1,3])
C1314792 (UMLS CUI [1,4])