Jeffrey Martens says, “Our work is devoted to understanding mechanisms of olfaction, pathogenesis of olfactory dysfunction, and the development of curative therapies for anosmia. Olfactory dysfunction in the general population is frequent, affecting at least 2.5 million people in the U.S. alone. In at least 20% of the cases, the etiology of the chemosensory disturbance cannot be identified. We were one of the first to demonstrate olfactory dysfunction as a clinical manifestation of an emerging class of human genetic disorders, termed ciliopathies, which involve defects in ciliary assembly, maintenance, and/or function. Most importantly, we have demonstrated that gene therapy can be used to successfully rescue anosmia resulting from the malformation/loss of cilia.
“Projects in the laboratory seek to identify direct mechanisms by which sensory input and deprivation regulate olfactory function and to learn how these are disrupted in disease states. Specifically, we work to elucidate the mechanisms underlying the transport of odorant signaling proteins into cilia of olfactory sensory neurons and their alterations in cilia-related disorders. In addition, work completed in the laboratory seeks to understand the importance of cilia for neurogenesis and cell differentiation, investigating their contribution to the regenerative properties of olfactory basal stem cells. Together, this work contributes to our understanding of the pathogenesis of human sensory perception diseases and paves the way for the development of treatments for olfactory loss in humans, where no curative therapies for ciliopathic disease exist.”