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’s degree from the University of Wisconsin in 1976, and his Ph.D. from Harvard University in 1981, followed by postdoctoral training at the Howard Hughes Medical Institute at the University of Utah. He joined the NIDCD in 1997 and since then has focused on applying the tools of human genetics and genomics to a range of topics that span the mission of the institute, including disorders of auditory pitch perception, variation in human taste perception, and disorders of voice and speech. Dr. Drayna’s current work has a major focus on the genetics and neuroscience of stuttering.
- 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.
- Kozlitina J, Risso D, Lansu K, Olsen RHJ, Sainz E, Luiselli D, Barik A, Frigerio-Domingues C, Pagani L, Wooding S, Kirchner T, Niaura R, Roth B, Drayna D. An African-specific haplotype in MRGPRX4 is associated with menthol cigarette smoking. PLoS Genet. 2019;15(2):e1007916.
- 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.
- Han TU, Root J, Reyes LD, Huchinson EB, Hoffmann JD, Lee WS, Barnes TD, Drayna D. Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum. Proc Natl Acad Sci U S A. 2019.
Related Scientific Focus Areas
Genetics and Genomics
Molecular Biology and Biochemistry
This page was last updated on Thursday, August 29, 2019