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(CDH)",{"label":13,"type":10,"description":14,"interventionNames":10},"Unaffected","Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)",[16],{"name":17,"affiliation":5,"role":18},"Yufeng Shen, PhD","PRINCIPAL_INVESTIGATOR",[20],{"name":21,"role":22,"phone":10,"phoneExt":10,"email":23},"Anah Kim Hetzler","CONTACT","ak3578@columbia.edu",[25,44,63,79,94,109,123,133,150,167,186,197,212,222],{"facility":26,"status":27,"city":28,"state":29,"zip":30,"country":31,"countryCode":32,"cosmosGeoPoint":33,"geoPoint":38,"contacts":39},"Rush Hospital","RECRUITING","Chicago","Illinois","60612","United States","US",{"type":34,"coordinates":35},"Point",[36,37],-87.65005,41.85003,{"lat":37,"lon":36},[40,42],{"name":41,"role":22,"phone":10,"phoneExt":10,"email":10},"Mindy Li, MD",{"name":43,"role":22,"phone":10,"phoneExt":10,"email":10},"Alexa Hart, MS, CGC",{"facility":45,"status":27,"city":46,"state":47,"zip":48,"country":31,"countryCode":32,"cosmosGeoPoint":49,"geoPoint":53,"contacts":54},"University of Michigan\u002F CS Mott Children's Hospital","Ann Arbor","Michigan","48167-5245",{"type":34,"coordinates":50},[51,52],-83.74088,42.27756,{"lat":52,"lon":51},[55,59,62],{"name":56,"role":22,"phone":57,"phoneExt":10,"email":58},"George Mychalisa, MD, MS","734-763-2072","mychalis@med.umich.edu",{"name":60,"role":22,"phone":57,"phoneExt":10,"email":61},"Jeannie Kreutzman, RN, MSN","jkreutzm@med.umich.edu",{"name":56,"role":18,"phone":10,"phoneExt":10,"email":10},{"facility":64,"status":27,"city":65,"state":66,"zip":67,"country":31,"countryCode":32,"cosmosGeoPoint":68,"geoPoint":72,"contacts":73},"Washington University Medical Center\u002F St. Louis Children's Hospital","St Louis","Missouri","63110",{"type":34,"coordinates":69},[70,71],-90.19789,38.62727,{"lat":71,"lon":70},[74,77],{"name":75,"role":22,"phone":10,"phoneExt":10,"email":76},"Jessica Conway","jessicaconway@wustl.edu",{"name":78,"role":18,"phone":10,"phoneExt":10,"email":10},"Brad Warner, MD",{"facility":80,"status":27,"city":81,"state":82,"zip":83,"country":31,"countryCode":32,"cosmosGeoPoint":84,"geoPoint":88,"contacts":89},"Children's Hospital of Omaha\u002F University of Nebraska","Omaha","Nebraska","68114",{"type":34,"coordinates":85},[86,87],-95.94043,41.25626,{"lat":87,"lon":86},[90,93],{"name":91,"role":22,"phone":10,"phoneExt":10,"email":92},"Sheila Horak, APRN","shorak@childrensomaha.org",{"name":78,"role":18,"phone":10,"phoneExt":10,"email":10},{"facility":95,"status":27,"city":96,"state":97,"zip":98,"country":31,"countryCode":32,"cosmosGeoPoint":99,"geoPoint":103,"contacts":104},"Northwell Health","Manhasset","New York","11030",{"type":34,"coordinates":100},[101,102],-73.69957,40.79788,{"lat":102,"lon":101},[105,108],{"name":106,"role":22,"phone":10,"phoneExt":10,"email":107},"Samuel Soffer, MD","ssoffer@nhsh.edu",{"name":106,"role":18,"phone":10,"phoneExt":10,"email":10},{"facility":110,"status":27,"city":97,"state":97,"zip":111,"country":31,"countryCode":32,"cosmosGeoPoint":112,"geoPoint":116,"contacts":117},"New York University, Hassenfeld Children's Hospital at NYU Langone Health","10016",{"type":34,"coordinates":113},[114,115],-74.00597,40.71427,{"lat":115,"lon":114},[118,121],{"name":119,"role":22,"phone":10,"phoneExt":10,"email":120},"Barbara Coons","Barbara.Coons@nyulangone.org",{"name":122,"role":18,"phone":10,"phoneExt":10,"email":10},"Jason Fisher, MD",{"facility":124,"status":27,"city":97,"state":97,"zip":125,"country":31,"countryCode":32,"cosmosGeoPoint":126,"geoPoint":128,"contacts":129},"Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center)","10032",{"type":34,"coordinates":127},[114,115],{"lat":115,"lon":114},[130,132],{"name":21,"role":22,"phone":131,"phoneExt":10,"email":23},"212-342-4622",{"name":17,"role":18,"phone":10,"phoneExt":10,"email":10},{"facility":134,"status":27,"city":135,"state":136,"zip":137,"country":31,"countryCode":32,"cosmosGeoPoint":138,"geoPoint":142,"contacts":143},"Cincinnati Children's Hospital and Medical Center\u002F University of Cincinnati","Cincinnati","Ohio","45229",{"type":34,"coordinates":139},[140,141],-84.51439,39.12711,{"lat":141,"lon":140},[144,148],{"name":145,"role":22,"phone":146,"phoneExt":10,"email":147},"Trish Burns, BSN","513-803-0745","trish.burns@cchmc.org",{"name":149,"role":18,"phone":10,"phoneExt":10,"email":10},"Foong Yen Lim, MD",{"facility":151,"status":27,"city":152,"state":153,"zip":154,"country":31,"countryCode":32,"cosmosGeoPoint":155,"geoPoint":159,"contacts":160},"Oregon Health & Science University, Doernbecher Children's Hospital","Portland","Oregon","97239",{"type":34,"coordinates":156},[157,158],-122.67621,45.52345,{"lat":158,"lon":157},[161,164],{"name":162,"role":22,"phone":10,"phoneExt":10,"email":163},"Andrew Mason","masoned@ohsu.edu",{"name":165,"role":22,"phone":10,"phoneExt":10,"email":166},"Elizabeth Fialkowski, MD","fialkows@ohsu.edu",{"facility":168,"status":27,"city":169,"state":170,"zip":171,"country":31,"countryCode":32,"cosmosGeoPoint":172,"geoPoint":176,"contacts":177},"Children's Hospital of Pittsburgh\u002F University of Pittsburgh","Pittsburgh","Pennsylvania","15213",{"type":34,"coordinates":173},[174,175],-79.99589,40.44062,{"lat":175,"lon":174},[178,182,185],{"name":179,"role":22,"phone":180,"phoneExt":10,"email":181},"Min Shi, BSN","412-692-7440","shim@upmc.edu",{"name":183,"role":22,"phone":10,"phoneExt":10,"email":184},"Paul Waltz, 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College of Wisconsin","Milwaukee","Wisconsin","53226",{"type":34,"coordinates":218},[219,220],-87.90647,43.0389,{"lat":220,"lon":219},{"facility":223,"status":27,"city":224,"state":10,"zip":10,"country":225,"countryCode":226,"cosmosGeoPoint":227,"geoPoint":231,"contacts":232},"Cairo University Hospital","Cairo","Egypt","EG",{"type":34,"coordinates":228},[229,230],31.24967,30.06263,{"lat":230,"lon":229},[233,237],{"name":234,"role":22,"phone":235,"phoneExt":10,"email":236},"Mahmoud Elfiky, MD","201001557755","drmelfiky@gmail.com",{"name":234,"role":18,"phone":10,"phoneExt":10,"email":10},{"type":239,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[241,244],{"name":242,"class":243},"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",{"name":245,"class":243},"National Institutes of Health (NIH)","100129184","diaphragmatic-hernia-research--exploration-advancing-molecular-science-100129184",false,"NCT00950118","Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science","DHREAMS","Inclusion Criteria:\n\n* All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of a CDH\n\nExclusion Criteria:\n\n* Individuals with no personal history of a CDH or family history of a family member affected with congenital diaphragmatic hernia",true,"ALL",{"count":256,"type":257},3000,"ESTIMATED","OBSERVATIONAL","The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of molecular pathogenesis and, ultimately, prevention or treatment of congenital diaphragmatic hernia. There are many different possible modes of inheritance for congenital anomalies, including autosomal dominant, autosomal recessive, and multifactorial. Multi-factorial inheritance is responsible for many common medical disorders, including hypertension, myocardial infarction, diabetes and cancer. This type of inheritance pattern appears to involve environmental factors as well as a combination of genetic variations that together can predispose to or produce congenital anomalies, such as congenital diaphragmatic hernia.\n\nOur study is designed to establish a small, well-defined genetic resource consisting of 1) Nuclear families suitable for linkage analysis by parametric,non-parametric (e.g. sib pairs, TDT) and association techniques, 2) Individuals with congenital diaphragmatic hernia who can be directly screened for allelic variation in candidate genes, and 3) Individuals who can serve as controls (are unaffected by congenital diaphragmatic hernia). Neonates and their families will be collected from homogenous and heterogeneous populations. By characterizing diverse populations, it should be possible to increase the likelihood of demonstration of genetic variation in selected candidate genes that can then be used in association and linkage studies in individual subjects with congenital diaphragmatic hernia.",[261],"Congenital Diaphragmatic Hernia",[9,263,264,265,266,267,268],"Genes","Genetic","Genetic testing","exome sequencing","genome sequencing","RNAseq","2025-12-08",{"date":271,"type":272},"2025-12-12","ACTUAL",{"date":274,"type":10},"2005-06",{"date":276,"type":257},"2026-09",{"name":5,"class":6},14]