This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Congenital Diaphragmatic Hernia (CDH) is a frequent and often fatal developmental condition that appears to be caused by diverse factors. This project will use a molecular genetic strategy that combines clinical, molecular biological, developmental, and genetic expertise to identify genetic causes of this anomaly. The long-term goal of this project, after identifying genetic causes of CDH, is to elucidate functional biochemical pathways to serve as targets for pharmacologic intervention. Ongoing projects as Massachusetts General Hospital are working to identify novel genes in insect, avian, and rodent models of lung development, which could be associated with the human condition of CDH. Additional screens are ongoing at MGH using discarded tissue speciments from aborted human fetuses. With the portion of the project dtailed in this application, specifically we plan to: I. Assemble a carefully phenotyped cohort of patients with Congenital Diaphragmatic Hernia (CDH) and create a structurally sound database for categorization. II. Collect and store biological materials corresponding with patients phenotyped and entered into the created CDH database. III. Test the hypothesis that mutations in one or more meritorious candidate genes, currently being generated in ongoing screens in Drisophila, chicks, rodents and aborted human fetuses are a molecular cause of CDH in humans. IV. Test the alternative hypothesis that CDH is caused by defects in gene pathways not revealed in current animal models, using collected CDH patient/family biological samples to identify novel genes associated with this anomaly.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR002172-24
Application #
7380728
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2006-04-01
Project End
2007-03-31
Budget Start
2006-04-01
Budget End
2007-03-31
Support Year
24
Fiscal Year
2006
Total Cost
$22,892
Indirect Cost
Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115
Cassidy, Adam R; Bernstein, Jane Holmes; Bellinger, David C et al. (2018) Visual-spatial processing style is associated with psychopathology in adolescents with critical congenital heart disease. Clin Neuropsychol :1-19
Bean Jaworski, Jessica L; White, Matthew T; DeMaso, David R et al. (2018) Visuospatial processing in adolescents with critical congenital heart disease: Organization, integration, and implications for academic achievement. Child Neuropsychol 24:451-468
Sakai Bizmark, Rie; Chang, Ruey-Kang R; Tsugawa, Yusuke et al. (2017) Impact of AHA's 2007 guideline change on incidence of infective endocarditis in infants and children. Am Heart J 189:110-119
Selamet Tierney, Elif Seda; Hollenbeck-Pringle, Danielle; Lee, Caroline K et al. (2017) Reproducibility of Left Ventricular Dimension Versus Area Versus Volume Measurements in Pediatric Patients With Dilated Cardiomyopathy. Circ Cardiovasc Imaging 10:
Hron, Bridget M; Ebbeling, Cara B; Feldman, Henry A et al. (2017) Hepatic, adipocyte, enteric and pancreatic hormones: response to dietary macronutrient composition and relationship with metabolism. Nutr Metab (Lond) 14:44
Rollins, Caitlin K; Asaro, Lisa A; Akhondi-Asl, Alireza et al. (2017) White Matter Volume Predicts Language Development in Congenital Heart Disease. J Pediatr 181:42-48.e2
Kim, So Hyun; Joseph, Robert M; Frazier, Jean A et al. (2016) Predictive Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm. J Pediatr 178:101-107.e2
Leviton, Alan; Allred, Elizabeth N; Fichorova, Raina N et al. (2016) Antecedents of inflammation biomarkers in preterm newborns on days 21 and 28. Acta Paediatr 105:274-80
Cousminer, Diana L; Widén, Elisabeth; Palmert, Mark R (2016) The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity. Curr Opin Endocrinol Diabetes Obes 23:57-65
Keerthy, Divya; Youk, Ada; Srinath, Arvind I et al. (2016) Effect of Psychotherapy on Health Care Utilization in Children With Inflammatory Bowel Disease and Depression. J Pediatr Gastroenterol Nutr 63:658-664

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