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| Name | Class |
|---|---|
| University of Miami | OTHER |
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The Genetics of Neural Tube Defects Study at the University of Miami: The University of Miami John P. Hussman Institute for Human Genomics is looking for families to participate in research to identify the genetic and environmental factors that contribute to Neural Tube Defects (NTD). Our research goal is to better understand the genetic and environmental causes of both open NTD, like spina bifida and anencephaly, and closed NTD, like lipomeningocele and tethered cord. This will eventually lead to more accurate genetic counseling and risk assessment, improved treatments, and better prevention methods. Any individual with a diagnosis of NTD and his/her selected family members can participate, if willing. Participation is free. Travel is not required. Participation involves reading and signing a consent form, providing a blood sample, a family and medical history interview, and granting the research staff permission to review the medical records of the individual(s) with NTD. We maintain the highest standards of confidentiality for all families. If interested, please contact Maria Ciliberti, the study coordinator, at 1-877-686-6444 (toll free) or directly at 305-243-4360, or by email Mciliberti@med.miami.edu . Please visit our web site at www.hihg.org for more information.
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Inclusion Criteria: Any individual with a diagnosis of NTD and his/her selected family members can participate, if willing -
Exclusion Criteria: Pregnant children will not be enrolled
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Any individual with a diagnosis of NTD and his/her selected family members can participate, if willing
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Maria Ciliberti, MPH | Contact | 305-243-4360 | mciliberti@med.miami.edu |
| Name | Affiliation | Role |
|---|---|---|
| Evadnie Rampersaud, PhD | University of Miami John P. Hussman Institute for Human Genomics | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Miami John P. Hussman Institute for Human Genomics | Recruiting | Miami | Florida | 33136 | United States |
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| Label | URL |
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| Related Info | View source |
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| ID | Term |
|---|---|
| D009436 | Neural Tube Defects |
| D016135 | Spinal Dysraphism |
| D000757 | Anencephaly |
| D013119 | Spinal Cord Injuries |
| ID | Term |
|---|---|
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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Blood sample
| D009008 | Abnormalities, Severe Teratoid |
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D020196 | Trauma, Nervous System |
| D014947 | Wounds and Injuries |