My research in the past has focused on genetic diseases, which reveal insight into normal copper metabolism in the cell. I am now more involved in the clinical aspect of the Department of Human Genetics and am interested in developing research projects from the clinical perspective. I am currently involved in the telomere project establishing genotype/phenotype correlations, and examining the utility of telomeres in patient care. In addition, my goals are to provide clinical correlation for the basic science research projects in the department. I plan to develop research activities related to the diagnosis and treatment of metabolic diseases and have an interest in the specific areas of genes involved in craniofacial development and normal growth. In addition, opportunities exist to develop programs related to study of chromosome 15 abnormalities.
I am also involved in education throughout the university specifically in the medical school. I am interested in developing new and unique curriculum for integrating genetics into the four years of the medical school training and residency programs.
Selected Publications
Waggoner DJ, Ueda K, Mantia C, Dowton SB. Methylmalonic Aciduria (cblF): Case Report and Response to Therapy. Am J Med Genet 79(5): 373-375, 1998.
Waggoner DJ, Bartnikas TB, Gitlin JD. The Role of Copper in Neurodegenerative Disease. Neurobiol Dis 6(4): 221-230, 1999.
Waggoner DJ, Drisaldi B, Bartnikas TB, Casareno RLB, Prohaska JR, Gitlin JD, Harris DA. Brain Copper Contetn and Cuproenzyme Activity do not Vary with Prion Protein Expression Level. J Biol Chem 275(11):7455-8, 2000.
Wong PC, Waggoner D, Subramaniam JR, Tessarollo L, Bartnikas TB, Culotta VC, Price DL, Rothstein J, Gitlin JD. Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase. Proc Natl Acad Sci U S A 97(6):2886-91, 2000.
Lese Martin, C.*, Waggoner, D.J. *, (* denotes equal contribution), Wong, A., Uhrig, S., Roseberry, J.A., Hedrick, J.F., Pack, S.D., Russell, K., Zackai, E., Dobyns, W.B., Ledbetter, D.H.: "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. Journal of Medical Genetics 39 (10): 734-740, 2002.
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