A Tribute to Marcy Carlson Speer, 1959–2007

It is with great sadness that we say goodbye to Marcy Carlson Speer, who died on August 4, 2007, at the age of 47 after a two-year battle with breast cancer. Marcy was an extremely accomplished scientist who, at the time of her death, was the director of the Duke Center for Human Genetics and chief of the Division of Medical Genetics. During her career, she published 124 articles and 16 book chapters; the topics of her scholarly scientific work ranged from gene mapping and identification to method development in genetic epidemiology and authoritative book chapters on linkage analysis. Over her scientific career, Marcy was the recipient of 24 National Institutes of Health (NIH) grants; of these, she was principal investigator of 18. Marcy was born on October 1, 1959, in Indianapolis and was raised in Indiana and Illinois. She graduated from Champaign Centennial High School, where she was first introduced to population genetics and became interested in both the biological and mathematical aspects of genetics. After receiving a Bachelor of Arts degree in Mathematics from Indiana University in 1981, Marcy continued her studies at Sarah Lawrence College, where, in 1983, she received a Master of Science degree in Human Genetics specializing in genetic counseling. At Duke University in Durham, North Carolina, Marcy completed her PhD in Zoology with a concentration in statistical human genetics under the mentorship of Margaret Pericak-Vance. In 1991 she moved to New York City to continue her training in statistical genetics as a post-doctoral fellow at Columbia University with Jurg Ott as her advisor. She then returned to Duke University Medical Center (DUMC) and rose to the rank of fully tenured professor, making her one of only ten female faculty members at DUMC in the Department of Medicine ever to be promoted to this position. She also held appointments in the Department of Biostatistics and Bioinformatics and the Department of Molecular Genetics and Microbiology. In 2006, she became the director of the Center for Human Genetics and chief of the Division of Medical Genetics, in the Department of Medicine, a position she held until her death. In addition to her training in genetic epidemiology, statistical genetics, and genetic counseling, Marcy was a board-certified medical geneticist and genetic counselor. Her unique training gave her the ability to tackle a wide variety of scientific issues. One of her main interests was the genetic etiology of neurological disorders, with a particular interest in neural tube defects and Chiari type I malformations. Marcy had a long history of studying a variety of muscular dystrophies, including limb-girdle and facioscapulohumeral muscular dystrophy. She was involved in the identification of genes for hereditary hemorrhagic telangiectasia, type 2, bethlem myopathy, limb girdle muscular dystrophy 1A, and dominant intermediate Charcot-Marie-Tooth disease. She was also interested in elucidating phenotype–genotype correlations for both Mendelian and complex traits and in identifying endophenotypes for bipolar disorder. Marcy was fascinated by how genes and environment interact, which is exemplified by her work on neural tube defects, folate pathway genes, and preconception dietary folic acid supplementation. In all, Marcy did research on 24 disease phenotypes, which, in addition to those previously mentioned, included cystic fibrosis, rickets, tuberous sclerosis, pulmonary fibrosis, asthma, and sensorineural hearing loss. In the clinical arena, Marcy was actively involved in genetic counseling for neuromuscular and complex genetic diseases. Her expertise in disease etiology was recognized internationally, and she was a member of the advisory board of the American Syringomyelia Alliance Project, the chair of the American Syringomyelia Alliance Project Research Committee, and a member of the Professional Advisory Committee of the Spina Bifida Association of America. Marcy was sought out as a speaker in her areas of expertise, and was to be an invited speaker at the Neural Tube Defects International Conference in Genoa, Italy in October 2007. In addition to her research related to disease phenotypes, Marcy also tackled issues in statistical genetics. Her work included demonstrating how neural networks can be used to aid in the determination of disease status, developing chromosome-based simulation programs for rapid doi:10.1371/journal.pgen.0030230.g001