Dennis T. Drayna, Ph.D.
Section on Systems Biology of Communication Disorders
Porter Neuroscience Research Center, Room 1F-127
35 Convent Drive
Bethesda, MD 20892
In the Section on Systems Biology of Communication Disorders, we use family- and population-based genetic methods to identify genes responsible for human communication disorders. The lab has a major focus on the speech disorder stuttering, for which we have identified causative mutations in several genes. We study the biochemical and cellular effects of these mutations, and we use mouse model systems to study the effects of these mutations on mouse ultrasonic vocalizations. The long-term goal of our work is to identify specific neuronal pathologies caused by these mutations.
We also perform studies on the sense of taste, where our overall goal is understanding how naturally occurring genetic variation contributes to differences in the sense of taste in humans. We are currently focused on a study of variation in taste perception genes and tobacco use, with a particular interest in menthol tobacco use and variation in the TRPM8 gene which encodes the menthol receptor.
Dr. Drayna received his bachelor of arts degree in biology from the University of Wisconsin in 1976, and his Ph.D. in genetics from Harvard University in 1981. Dr. Drayna conducted his postdoctoral research at the Howard Hughes Medical Institute at the University of Utah, where he constructed the first full-length genetic map of a human X chromosome, and performed a number of disease-specific gene linkage studies. He later spent 15 years in the San Francisco Bay area biotechnology industry, where he worked on genetic aspects of cholesterol and lipid metabolism, and identified the gene responsible for hereditary hemochromatosis. In 1996, Dr. Drayna moved to the NIH as a visiting investigator at NHGRI. He joined the NIDCD in 1997 and since then has focused on the genetics of disorders such as auditory pitch perception, variation in the sense of taste, and disorders of voice and speech. His current research is primarily directed toward the genetics of stuttering and the identification of the neural deficits that underlie this disorder.
Kim UK, Jorgenson E, Coon H, Leppert M, Risch N, Drayna D. Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science. 2003;299(5610):1221-5.
Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D. Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. Am J Hum Genet. 2015;97(5):715-25.
Barnes TD, Wozniak DF, Gutierrez J, Han TU, Drayna D, Holy TE. A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations. Curr Biol. 2016.
Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med. 2010;362(8):677-85.
Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. Eur J Hum Genet. 2016;24(4):529-34.