FaceBase Biorepository
Study Details
Study Description
Brief Summary
The purpose of this study is to find out if there are any genetic differences between people with and without disorders of the head, face, and eye. We will create a biorepository of samples from people with and without these types of birth defects. A biorepository is a collection or "bank" of human tissue materials (such as blood or saliva) for research purposes. These samples will then be available to investigators studying these disorders.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
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Detailed Description
Samples from the FaceBase Biorepository and data collected from these samples will be available to investigators who are studying birth defects of the head, face, and eye. Data and samples will be deidentified prior to use by other investigators. Researchers will be allowed to use samples and medical information only after approval by the FaceBase Biorepository Data Access Committee. Once the FaceBase Biorepository Data Access Committee has established that the proposed use of the samples and clinical data meet the criteria for sound, ethical research, then the investigator will be granted permission to use a small portion of the sample and have access to clinical data stored in the computer database. Investigators who are not part of the FaceBase Biorepository Research Team will not know participant's names or other personally identifiable information.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Individuals with craniofacial anomalies Individuals who have a craniofacial anomaly (head, face, or eye disorder) |
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| Control Subjects Family members of individuals with a craniofacial anomaly |
Outcome Measures
Primary Outcome Measures
Eligibility Criteria
Criteria
Inclusion Criteria:
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English speaking
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Individual with a craniofacial anomaly or family member of an individual with a craniofacial anomaly
Exclusion Criteria:
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Non-English speaking
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Prisoners
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Minors in foster care or wards of the court
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of Iowa | Iowa City | Iowa | United States | 52242 |
Sponsors and Collaborators
- Jeff Murray
- National Institute of Dental and Craniofacial Research (NIDCR)
Investigators
- Principal Investigator: Jeff Murray, MD, University of Iowa
Study Documents (Full-Text)
None provided.More Information
Publications
- Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010 Jun;42(6):525-9. doi: 10.1038/ng.580. Epub 2010 May 2. Erratum in: Nat Genet. 2010 Aug;42(8):727. Scott, James M [corrected to Scott, John M].
- Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008 Nov;40(11):1341-7. doi: 10.1038/ng.242. Epub 2008 Oct 5.
- 200912764
- U01DE020057