Successes

Core Faculty

Allison Ashley-Koch, PhD, is an Associate Professor in the Section of Medical Genetics, Department of Medicine at Duke University Medical Center. She received her Ph.D. in genetics and molecular biology from Emory University in 1997. Her research focuses on the genetic epidemiology of Mendelian and complex genetic disorders. In terms of Mendelian inherited disorders, she is working to identify novel genes involved in muscular dystrophy, as well as to identify genes that modify the clinical severity ("genetic modifiers") of sickle cell disease. Dr. Ashley-Koch is also interested in the genetics of essential tremor, which has been described as a Mendelian disorder, but may have a more complex inheritance in most cases. Much of her work focuses on complex disorders of a neurological or psychiatric nature. Dr. Ashley-Koch is working to identify novel genes and gene-gene and gene-environment interactions which contribute to the occurrence of neural tube defects (NTD's), including anencephaly and spina bifida. She is also studying the genetic etiology of Chiari type I malformation, with or without syringomyelia (CMI) and serves on the scientific board of the Chiari & Syringomyelia Foundation, Inc. Dr. Ashley-Koch and colleagues are investigating improved phenotyping methods, such as imaging techniques, to better identify individuals within CMI families who are "at risk" and ultimately to identify associated genes. Another primary interest is the genetic basis of attention deficit hyperactivity disorder, particularly with respect to the influence of genetic factors which contribute to the variability in the presentation of ADHD symptoms across development. A related interest is the co-occurrence of smoking and ADHD and the genetic liabilities which may be in common across these conditions. Dr. Ashley-Koch has several other psychiatric studies that are also on-going, including the genetic basis of autism, bipolar disorder, depression and trichotillomania. Additionally, she is part of larger, collaborative efforts to examine the very complex interplay among genetic, social and environmental factors as they contribute to premature birth and low birthweight, as well as risk for cardiovascular disease. In all her studies, Dr. Ashley-Koch is taking a variety of molecular approaches to identify putative genes, including selected candidate gene association analysis, whole genome association/linkage analysis, and candidate gene mutation analysis.

PhD, 1997, Genetics and Molecular Biology, Emory University, Atlanta, GA

Selected Publications

Autism
Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh MB, Aylsworth AS, Vance JM, Gilbert JG, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, and Pericak-Vance MA. Genetic studies of autistic disorder and chromosome 7. Genomics 61:227-236, 1999.

Familial Spastic Paralegia
Ashley-Koch A, West SG, Bonner ER, Gaskell PC, Wolpert CM, Warner C, Farrell CD, Svenson IK, Marchuk DA, Boustany R-MN, Vance JM, Scott WK and Pericak-Vance MA. Fine mapping and genetic heterogeneity in pure form of autosomal dominant familial spastic paraplegia. Neurogenetics 3: 91-97, 2001.

Sickle Cell Disease
Ashley-Koch A, Murphy CC, Khoury MJ, and Boyle CA. The contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study. Genetics in Medicine 3(3):181-6, 2001.

Contact at:
Center for Human Genetics
DUMC Box 2903
Durham, NC 27710
Phone: 1-919-684-1805
Fax: 1-919-684-0912
E-mail: ashle021@chg.duhs.duke.edu

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