Integrative 'Omics of Transcriptome Complexity in COPD
Integrative 'Omics of Transcriptome Complexity in COPD
批准号:
10189836
负责人:
Aabida Saferali
金额:
$17.81万
依托单位国家:
美国
项目类别:
财政年份:
2021
资助国家:
美国
项目状态:
未结题
起止时间:
2021-04-01 至 2026-03-31
关键词:
AddressAllelesAlternative SplicingBiologicalBiometryBloodBlood specimenCause of DeathCellsChronic Obstructive Airway DiseaseClinical ManagementComplementDataData SetDevelopmentDiseaseDisease susceptibilityDoctor of PhilosophyDrug TargetingEnvironmental Risk FactorFDA approvedGene ExpressionGene Expression RegulationGenerationsGenesGeneticGenetic PolymorphismGenetic TranscriptionGenomicsGenotypeGoalsKnowledgeLeadLengthLungLung diseasesMentorsMethodologyNucleic Acid Regulatory SequencesPathogenesisPathway interactionsPatternPhenotypePlayProtein IsoformsQuantitative Trait LociRNA SplicingResearchResearch DesignResearch PersonnelResearch PriorityRoleSamplingSmokerSmokingSpliced GenesStructureStructure of parenchyma of lungSusceptibility GeneTechniquesTestingTissue SampleTissuesTrainingTranscriptTranscriptional RegulationTranslational ResearchVariantWhole BloodWorkcareercase controlcigarette smokingdisorder riskexperiencegene productgenetic variantgenome wide association studygenomic locusimprovedinnovationinsightnovelpersonalized approachpulmonary functionrespiratoryskillssuccesstargeted treatmenttranscriptometranscriptome sequencingtranscriptomics
中文摘要
项目总结
英文摘要
PROJECT SUMMARY
Aabida Saferali, PhD, is an academic researcher with a focus on the genetics of respiratory diseases, whose
overarching career goal is to become an independent investigator with the skill set to utilize integrative ‘omic
techniques for the improved biological understanding and clinical management of chronic obstructive
pulmonary disease (COPD), one of the leading causes of death worldwide. The proposed research combines
her prior experience in genetics and transcriptomics with training in long-read sequencing, advanced
integrative ‘omics, and biostatistics, in order to address the fundamental issue of identifying disease causing
genes in GWAS loci. The hypothesis of this proposal is that transcriptional regulation through RNA
splicing plays an important role in COPD development and pathogenesis. This will be explored by
leveraging existing data from two well-phenotyped studies of lung disease: COPDGene and the Lung Tissue
Research Consortium. Specific Aims: (1) characterizing gene expression and splicing in smokers and
testing for associations with COPD case-control status and lung function; (2) discovering expression
quantitative trait loci (QTLs), splice QTLs and transcript ratio QTLs and using these data to explain
GWAS findings; and (3) using long-read RNA sequencing to characterize full-length isoforms
associated with disease and definitively identifying splicing patterns. The innovative research plan, which
utilizes novel methodologies to characterize splicing, will identify COPD GWAS loci involved in alternative
splicing. It is accompanied by a training plan, which will provide Dr. Saferali with the skills to complete the
research aims, as well as the experience to transition to independence and submit an R01 expanding upon the
characterization of isoform diversity in COPD using long-read sequencing. In particular Dr. Saferali has four
training goals which build upon her existing background in respiratory genetics. (1) To strengthen her
knowledge of biostatistics and statistical genomics; (2) to expand her integrative ‘omics skill set; (3) to
gain experience and expertise in the generation, analysis and interpretation of long-read sequencing
data; and (4) to deepen her understanding of study design and mentoring. She is supported by a
mentoring team with complementary skillsets and successful mentoring careers, which, together with her
experience and training, will guarantee the success of this proposal. The findings may pave the way for the
development of targeted therapeutics and personalized approaches, while exploring a novel methodology to
address one of the most important analytic challenges in the field today: characterization of isoform diversity
using RNA sequencing.
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Integrative 'Omics of Transcriptome Complexity in COPD
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批准号:10597085
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项目类别:
-
资助金额:$17.8万
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财政年份:2021
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负责人:Aabida Saferali
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依托单位:
Integrative 'Omics of Transcriptome Complexity in COPD
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批准号:10375562
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项目类别:
-
资助金额:$17.8万
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财政年份:2021
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负责人:Aabida Saferali
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依托单位:
海外基金