Genetic Research

Duke University Medical Centre is currently conducting ongoing, long-term research aimed at discovering the genetic and environmental factors that cause neural tube defects. Marcy Speer, Ph.D. heads the project, entitled "The Hereditary Basis of Neural Tube Defects", which is a collaborative effort between many physicians, nurses, genetic counsellors, and spina bifida clinics throughout the United States and the world. The researchers are currently looking for families interested in participating in this research. They are searching for families in which one or more family members (even distantly related) have spina bifida (meningocele ore myelomeningocele) or any other type of neural tube defect (such as anencephaly, encephalocele, lipomeningocele, tethered cord, iniencephaly, craniorachischisis, or diastematomyelia).

Participation in the research is free and does not require travel to Duke University Medical Centre. Participation involves a telephone interview, at the convenience of the family, to draw the family tree and discuss pregnancy and medical information. participation also involves permission for the research team to review the medical records of the family member with a NTD to confirm the type and level of the lesion. In addition, a brief examination of the lower back of family members without an NTD is performed to look for evidence of spina bifida occulta. Lastly, participation involves obtaining blood samples from the person with a NTD and his or her parents and siblings, if possible. In families with more than one member with a NTD, it is ideal to collect blood samples form all the members with the NTD, their parents, their sisters and brothers, and any connecting relatives between the two branches. Blood mailing kits with instructions can be mailed directly to the family. The blood can be drawn by a local physician and mailed directly to Duke University Medical Centre at no cost. In some cases, one of the researchers is able to come to the family's home or other convenient location to obtain the family information and blood samples. All family information is kept confidential. Families do not receive individual results from the study because a test is not yet available. However, any medical breakthroughs are communicated by mail to families participating in the study. In addition, families are updated about progress of the research through yearly newsletters.

If your family is interested in learning more about this research or in participating, please contact Liz Melvin, MS, CGC (a genetic counsellor) at Duke University medical Centre, Section of Medical Genetics, Box 3445, Durham, NC 27710. Her toll-free telephone number is (800) 283-4316 and electronic mail address is emelvin@chg.mc.duke.edu.