As the lead investigator, Patricia K. Donahoe, MD, will serve as the Director of this Program Project to oversee and coordinate, with her Administrative Core, all aspects of this extensive endeavor. Dr. Donahoe will design and plan Project UI, coordinate all research for Projects I, II, and III, with their respective Principal Investigators and with the two other Core Directors. She will negotiate and coordinate platform availability, working closely with each investigator at each site to prioritize and budget genes selected for validation, resequencing, and the choice of animal models or IPS study for functional assessment. The Administrative Core of this Program Project will serve as """"""""traffic control"""""""" to quickly and efficiently communicate with all Program staff and assign tasks to the appropriate sites as deemed by the Director and Principal Investigators, and to monitor and assist laboratory staff in their completion. Weekly communications between sites will be done by direct contact or by videoconferencing using a PolyCom VSX70005 system.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
1P01HD068250-01
Application #
8143193
Study Section
Special Emphasis Panel (ZHD1-DSR-N (DP))
Project Start
2011-07-01
Project End
2016-06-30
Budget Start
2011-07-01
Budget End
2012-05-31
Support Year
1
Fiscal Year
2011
Total Cost
$67,996
Indirect Cost
Name
Massachusetts General Hospital
Department
Type
DUNS #
073130411
City
Boston
State
MA
Country
United States
Zip Code
02199
Longoni, Mauro; High, Frances A; Qi, Hongjian et al. (2017) Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Hum Genet 136:679-691
High, Frances A; Bhayani, Pooja; Wilson, Jay M et al. (2016) De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia. Am J Med Genet A 170:2457-61
Loscertales, Maria; Nicolaou, Fotini; Jeanne, Marion et al. (2016) Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation. BMC Biol 14:59
Donahoe, Patricia K; Longoni, Mauro; High, Frances A (2016) Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies. Am J Pathol 186:2532-43
Sanford, Ethan L; Choy, Kwong W; Donahoe, Patricia K et al. (2016) MiR-449a Affects Epithelial Proliferation during the Pseudoglandular and Canalicular Phases of Avian and Mammal Lung Development. PLoS One 11:e0149425
Longoni, M; Russell, M K; High, F A et al. (2015) Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clin Genet 87:362-7
Lundby, Alicia; Rossin, Elizabeth J; Steffensen, Annette B et al. (2014) Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics. Nat Methods 11:868-74
Longoni, Mauro; High, Frances A; Russell, Meaghan K et al. (2014) Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci U S A 111:12450-5
Lage, Kasper (2014) Protein-protein interactions and genetic diseases: The interactome. Biochim Biophys Acta 1842:1971-1980
Russell, Meaghan K; Longoni, Mauro; Wells, Julie et al. (2012) Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc Natl Acad Sci U S A 109:2978-83

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