Genetics of Neural Tube Defects

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.