ID
45552
Descrição
Principal Investigator: David Schwartz, MD, University of Colorado, Denver, USA MeSH: Pulmonary Disease, Chronic Obstructive,Lung Diseases, Interstitial,Pulmonary Emphysema https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000624 Chronic lung diseases represent a broad spectrum of chronic fibrosing/inflammatory lung conditions that are for the most part poorly responsive to treatment and often fatal. COPD/emphysema is the fourth leading cause of death in the United States and the incidence and rate of death from pulmonary fibrosis is increasing each year. Although progress has been made in interpretation of the clinical, radiological, and pathological features of chronic lung disorders, and progress in determining the pathobiology continues, the causes, biologic mechanisms, and therapeutic options remain obscure. Moreover, predicting individuals or populations at risk for developing any of these complex diseases, at present, is not possible. To address this challenge, we plan to create a genetic, molecular, and quantitative clinical phenotyping data warehouse with bioinformatic tools that will empower investigators to make fundamental discoveries in disease pathogenesis, refine diagnostic criteria, and lead to real gains in personalized medicine. The composite genetic, genomic, and epigenetic signature combined with quantitative clinical phenotypes has the potential to characterize the dynamic biological state of a complex disease and complement existing diagnostic approaches that are reliant on traditional clinical measures of disease. In the proposed project, we plan to extend the scope and impact of the NHLBI Lung Tissue Research Consortium (LTRC) biorepository by creating the Lung Genomics Research Consortium (LGRC), a comprehensive genetic, molecular, and quantitative clinical phenotyping warehouse. *Our overall hypothesis is that a genetic, molecular, and quantitative clinical phenotyping warehouse combined with a rich clinical database will enable the lung research community to make fundamental discoveries in disease pathogenesis, refine diagnostic criteria, and lead to real gains in personalized medicine.* We plan to pursue this hypothesis through the following aims. *Specific Aim 1: *Establish a genetic, genomic, and epigenetic molecular library to complement the existing clinical database in the LTRC. *Specific Aim 2: *Develop a quantitative clinical phenotyping platform using existing LTRC data, as well as an enhanced data set including novel quantitative CT and histology imaging analyses. *Specific Aim 3: *Establish a publicly-accessible database that would integrate the genetic, molecular, and quantitative phenotyping data with the existing clinical data in the LTRC and provide query and data exploration tools that are easily accessible to the lung research community. These discoveries will enable clinicians to- Identify individuals at risk of developing chronic lung diseases; - Diagnose these conditions earlier; - Identify novel mechanisms that cause these diseases; - Reclassify disease entities into categories more representative of molecular and cellular pathogenic mechanisms regardless of traditional disease categories; - develop personalized approaches to treatment.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000624
Palavras-chave
Versões (1)
- 09/01/2023 09/01/2023 - Dr. med. Lucy Kessler
Titular dos direitos
David Schwartz, MD, University of Colorado, Denver, USA
Transferido a
9 de janeiro de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000624 The Lung Genomics Research Consortium (LGRC)
Subject ID, age, gender, craniocaudal distribution of interstitial process, FEV1, first degree blood relatives developed asthma, COPD, or emphysema, major clinical diagnosis, pathological major diagnosis, severity classification, spirometric classification of COPD, and cigarette smoking of participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
- Subject ID and sample ID of participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
- Subject ID, age, gender, craniocaudal distribution of interstitial process, FEV1, first degree blood relatives developed asthma, COPD, or emphysema, major clinical diagnosis, pathological major diagnosis, severity classification, spirometric classification of COPD, and cigarette smoking of participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
- Sample ID, axial distribution of emphysema, axial distribution of interstitial process, received chemotherapy for cancer, tumor status of samples, and tissue type of sample obtained from participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
Similar models
Subject ID, age, gender, craniocaudal distribution of interstitial process, FEV1, first degree blood relatives developed asthma, COPD, or emphysema, major clinical diagnosis, pathological major diagnosis, severity classification, spirometric classification of COPD, and cigarette smoking of participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
- Subject ID and sample ID of participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
- Subject ID, age, gender, craniocaudal distribution of interstitial process, FEV1, first degree blood relatives developed asthma, COPD, or emphysema, major clinical diagnosis, pathological major diagnosis, severity classification, spirometric classification of COPD, and cigarette smoking of participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
- Sample ID, axial distribution of emphysema, axial distribution of interstitial process, received chemotherapy for cancer, tumor status of samples, and tissue type of sample obtained from participants with or without lung disease and involved in the "The Lung Genomics Research Consortium (LGRC)" project.
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C0241889 (UMLS CUI [1,2])
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