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.
|Study Design:||Observational Model: Case Control
Time Perspective: Retrospective
|Official Title:||FaceBase Biorepository|
- A biological sample will be obtained by a blood draw. In adults, we will obtain a blood sample of 1-2 tablespoons (10-30 mL). For children, the amount will be smaller depending on their weight: 1 mL per kg to a maximum of 30 mL.
- If a blood draw is refused, DNA can be taken from a cheek swab, spit sample or fingerstick.
- If a participant is having surgery for a medical reason, we may request a tissue sample (for example: skin, bone, or muscle). If there were to be extra tissue, amniotic fluid, other biological samples available from a procedure performed for clinical indications, we may request a sample.
|Study Start Date:||November 2010|
Individuals with craniofacial anomalies
Individuals who have a craniofacial anomaly (head, face, or eye disorder)
Family members of individuals with a craniofacial anomaly
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.
|Contact: Jenni Rigdon, MSN-CNL, RNfirstname.lastname@example.org|
|United States, Iowa|
|University of Iowa||Recruiting|
|Iowa City, Iowa, United States, 52242|
|Principal Investigator: Jeff Murray, MD|
|Principal Investigator:||Jeff Murray, MD||University of Iowa|