Altered olfaction is associated with many genetic syndromes (e.g., Kalman syndrome), with prevalent neurological and neurodevelopmental disorders (e.g. Alzheimer and Parkinson diseases, schizophrenia, and autism) and with non-genetic factors such as aging, menstrual cycle, trauma, infections, medications and chemical exposure. Despite this, the molecular dissection of human defective smelling is still in its infancy (Clin Genet 81, 210–215, 2012).
In this issue, Keydar et al. (Hum. Mutat 34:32–41) present a unique resource for human olfactory research: General Olfactory Sensitivity Database. GOSdb (http://genome.weizmann.ac.il/GOSdb) integrates data from the literature and other databases about functional in vitro studies, mouse gene knockouts, and human genetic disorders with associated olfactory phenotypes, the few known human genomic regions implicated in isolated congenital lack of olfaction (anosmia), and published transcriptome and proteome data related to olfactory tissues. These data are combined with RNA-Seq transcriptome profiling of human and mouse olfactory epithelium, of single olfactory sensory neurons, and of mouse olfactory bulb. The resulting ranked lists of candidate auxiliary olfactory genes cover a variety of biological functions. The associated known genomic variants for the top scoring candidates should be extremely helpful for researchers who are focusing on the genetics of normal and abnormal olfaction. However, olfactory dysfunction may not be evident unless specific functional tests are employed. Therefore, GOSdb should also be a site to visit for those who engage in global genomic screening and next generation sequencing of neurological and neurodevelopmental disorders, where olfactory dysfunction may be an often hidden part of the clinical spectrum.