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ASAP Research Grant Recipient: Marcy C. Speer, PhD, Associate Research Professor, Department of Medicine, Center for Human Genetics, Duke University

Project Title: Chiari Malformation I/Syringomyelia Genetic Research Study

Dates: 1998

Grant Amount: $100,000

The Center for Human Genetics at Duke University, in collaboration with Dr. Thomas Milhorat and colleagues of North Shore University Hospital/Manhasset NY and the American Syringomyelia Alliance Project, is investigating the hereditary basis of Chiari type I malformations with or without syringomyelia. Research is aimed at learning if CM1/S is indeed caused by factors inherited through the family and, if so, which genes are involved.

More than 150 families joined the initial phase of the CM1/S research study and provided detailed family histories and blood samples. We reported familial aggregation in a large study of 364 CM1/S patients. Of these study participants, 21 of the patients' families had two or more cases of CM1/S within the family. Thanks to all of the families who generously participated in the study, we were able to successfully accomplish the first step of the genetic research, which showed familial aggregation of CM1/S.