Successes

Core Faculty

Marcy C. Speer, PhD, is the Director of the Center for Human Genetics at Duke University Medical Center. Dr Speer, a genetic epidemiologist, a board-certified PhD medical geneticist, and a board-certified genetic counselor, is a Professor in the Department of Medicine. She is leading studies to uncover the genetic and environmental contributions to neurogenetic disorders including the neural tube defects (spina bifida and anencephaly).  Other on-going studies involve characterizing the genetic basis of the Chiari type 1 malformation with or without syringomyelia. Her interests also include phenotype-genotype correlations in simple Mendelian and complex disorders. She has a long history of genetic investigations into a variety of muscular dystrophies (autosomal dominant limb-girdle muscular dystrophy and facioscapulohumeral muscular dystrophy).   As a board certified genetic counselor and PhD medical geneticist, she is also interested in the translation of research findings into clinical care.

PhD, 1993, Statistical Human Genetics Duke University, Durham, NC

Selected Publications

Neural Tube Defects
Baty BJ, Cohen L, Phelps L, Speer MC, Stengel P, Williamson-Kruse L. Folic Acid and the Prevention of Neural Tube Defects: A Position Paper; National Society of Genetic Counselors. Journal of Genetic Counseling 5:139-146, 1996.

Speer MC, Worley G, Mackey JF, Melvin E, Oakes WJ, George TM and the NTD Collaborative Group. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. Neurogenetics 1:149-150, 1997.

Muscular Dystrophy
Speer MC. Using Neural Networks as an Aid in Determining Disease Status: Comparison of Clinical Diagnosis to Neural Network Predictions in a Pedigree with Autosomal Dominant Limb-Girdle Muscular Dystrophy. Am J Hum Genet 62:941-949, 1998.

Pan T-C, Zhang R-Z, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu M-L, Speer MC. Missense mutation in A von Wilebrand Factor Type A Domain of the [alpha]3 (VI) Collagen Gene (COL6A3) Leads to Bethlem Myopathy. Human Molecular Genetics, 7(5):807-812, 1998.

Hauser MA, Horrigan Sk, Salmikangas P, Viles KD, Tim RW, Torian UM, Anu T, Bartoloni L, Dancel R, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, and Speer MC. Myotilin is mutated in limb girdle muscular dystrophy 1A. Human Molecular Genetics 9(14):2141-2147, 2000.

Chiari Type 1 Malformations
Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C, Speer MC. Chiari I Malformation redefined: Clinical, radiographical and genetic features in 364 symptomatic patients. Neurosurgery 44:1005-1017, 1999.

Speer MC, George TM, Enterline DS, Franklin A, Wolpert CM, Milhorat TH. A Genetic Hypothesis for Chiari Type 1 Malformation with or without Syringomyelia (CM1/S). Neurosurgery Focus 8(3); March 2000.

Contact at:
Center for Human Genetics
DUMC Box 3445
Durham, NC 27710
Phone: 1-919-684-2063
Fax: 1-919-684-2275
E-mail: marcy.speer@duke.edu

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