Gene Mutation and Rescue in Human Diaphragmatic Hernia

人类膈疝的基因突变与挽救

• 批准号: 10596873
• 负责人: Wendy K Chung
• 金额: $ 37.45万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-08-29 至 2024-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10596873
• 关键词: Administrative Supplement; Bioinformatics; Boston; COVID-19; Child; Clinical; Clinical Management; Collaborations; Collection; Communities; Congenital Abnormality; Congenital diaphragmatic hernia; Consent; Data; Data Analyses; Diaphragmatic Hernia; Enrollment; Family; Family member; Foundations; Future; Gene Expression; Gene Mutation; General Hospitals; Genetic; Genetic Diseases; Genetic Predisposition to Disease; Genetic study; Genomics; Goals; Health Care Costs; Human; Infrastructure; Institutes; Institutional Review Boards; International; Link; Lung diseases; Massachusetts; Medical Records; Molecular; National Institute of Child Health and Human Development; New York; Outcome; Participant; Patient Recruitments; Patients; Pennsylvania; Phenotype; Research; Research Personnel; Research Support; Resources; Severities; Specificity; Specimen; Specimen Handling; Structural Congenital Anomalies; Therapeutic; Translating; Universities; clinical center; clinical phenotype; clinical prognosis; cohort; comorbidity; data management; data preservation; database of Genotypes and Phenotypes; experience; follow-up; genetic variant; genomic data; human subject; improved; mortality; phenotypic data; posters; preservation; programs; recruit; risk variant; success; transcriptomics

ADMINISTRATIVE SUPPLEMENT TO 2P01-HD068250 ABSTRACT: Congenital diaphragmatic hernia (CDH) is a common birth defect, which requires considerable infrastructure for creating and maintaining multi-institutional single IRBs, recruiting, clinically characterizing, obtaining, processing, and maintaining biospecimens on patients, with research centered at the Massachusetts General Hospital, Boston Children’s, and Columbia University, New York from 16 different clinical centers. The carefully honed infrastructure for patients, specimens, and data is the foundation for the success of this Program Project, “Gene Mutation and Rescue in Human Diaphragmatic Hernia”, to study genetic contributions to the structural birth defect, CDH. We have established one of the largest and most carefully characterized CDH cohorts in the world, which this Administrative Supplement aims to preserve. Collectively, we have already enrolled 2045 patients with CDH and 3662 unaffected family members, and ongoing recruitment has been expected to enroll 100 – 150 patients and families per year over the course of the Administrative Supplement, which will support the follow on recruitment and consent of participants, the continued collection and organization of extensive phenotypic data including retrospective medical record review and longitudinal clinical followup, follow on collection and processing of specimens with preservation of existing biospecimens, and data management by high quality bioinformatic analyses and annotation of genomic and phenotyping data. The data has been sequenced by the Broad Institute of Harvard and MIT but not yet released by the Data Release Resource at the University of Pennsylvania. This data must then be analyzed, then shared with dbGAP and Gabriella Miller Kid’s First Program portals to preserve data and specimens for this precious resource. The detailed phenotyping of human subjects will be instrumental in the interpretation of data derived by us and other investigators of the broad research community. Protecting the resource for posterity is uppermost in our Aims since we have invested considerable expertise and NICHD has invested millions of dollars into this Project under the auspices of the Structural Birth Defects Program of the NICHD.

2p01-hd068250的行政补充

项目成果

A scored human protein-protein interaction network to catalyze genomic interpretation.

• DOI: 10.1038/nmeth.4083
• 发表时间: 2017-01
• 期刊: Nature methods
• 影响因子: 48
• 作者: Li T;Wernersson R;Hansen RB;Horn H;Mercer J;Slodkowicz G;Workman CT;Rigina O;Rapacki K;Stærfeldt HH;Brunak S;Jensen TS;Lage K
• 通讯作者: Lage K

MiR-449a Affects Epithelial Proliferation during the Pseudoglandular and Canalicular Phases of Avian and Mammal Lung Development.

• DOI: 10.1371/journal.pone.0149425
• 发表时间: 2016
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Sanford EL;Choy KW;Donahoe PK;Tracy AA;Hila R;Loscertales M;Longoni M
• 通讯作者: Longoni M

Dissecting the Genetic Mechanisms Underlying Congenital Diaphragmatic Hernia.

剖析先天性膈疝的遗传机制。

• 发表时间: 2022
• 期刊: FASEB journal : official publication of the Federation of American Societies for Experimental Biology
• 作者: Sun,Xin

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

• DOI: 10.1002/ajmg.a.35665
• 发表时间: 2012-12
• 期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• 影响因子: 2
• 作者: Longoni, Mauro;Lage, Kasper;Russell, Meaghan K.;Loscertales, Maria;Abdul-Rahman, Omar A.;Baynam, Gareth;Bleyl, Steven B.;Brady, Paul D.;Breckpot, Jeroen;Chen, Chih P.;Devriendt, Koenraad;Gillessen-Kaesbach, Gabriele;Grix, Arthur W.;Rope, Alan F.;Shimokawa, Osamu;Strauss, Bernarda;Wieczorek, Dagmar;Zackai, Elaine H.;Coletti, Caroline M.;Maalouf, Faouzi I.;Noonan, Kristin M.;Park, Ji H.;Tracy, Adam A.;Lee, Charles;Donahoe, Patricia K.;Pober, Barbara R.
• 通讯作者: Pober, Barbara R.

Proteomic analysis of lysine acetylation sites in rat tissues reveals organ specificity and subcellular patterns.

• DOI: 10.1016/j.celrep.2012.07.006
• 发表时间: 2012-08-30
• 期刊: Cell reports
• 影响因子: 8.8
• 作者: Lundby A;Lage K;Weinert BT;Bekker-Jensen DB;Secher A;Skovgaard T;Kelstrup CD;Dmytriyev A;Choudhary C;Lundby C;Olsen JV
• 通讯作者: Olsen JV