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Tremendous amount of genomic data related to various human diseases are generated in these days to find candidate genes related to a disease. Experimental validation for the role of those genomic elements in a disease-related phenotype is one of the critical steps to translate information from genomics to the benefit for patients at “the bedside”. Because we could not use human directly in the experiment, a model organism is invaluable systems to study the role of genomic alteration in complex phenotype related to human diseases. Although mouse is most popular model organism in this type of research, there are other model organisms, including yeast, worm, fly, fish, frog, and bird, which have their own advantages to study human diseases.

We studies the function of human genes involved in diseases, based on their deep homology in multiple organisms. By utilizing large-scale functional genomic data in multiple organisms, we computationally infer the role of uncharacterized genes (or novel function of already characterized genes) in phenotype that we are interested in. By integrating engineering perspectives, we also develop novel experimental platform to validate our predictions in model organisms.

Birth Defects

Currently we are focusing on two human disease-related phenotype. One is the birth defect. The rate of birth defect is significantly increased in these days, and there are still many cases without a known cause. Because most model organisms produces many offspring, compared to human, we reason that it is easier to observe deleterious mutations related to birth-defect by screening the phenotype of wild-type model organism embryos. By developing high-throughput phenotype screening platform, we are currently analyzing possible effector genes inducing the defect in early vertebrate development.

Host-microbes Interaction

Host-microbe interaction on mucociliary epithelia is another area that we are currently working on. Through Human Microbiome Project (HMP), we have learned that microbes in our body have important roles to maintain the homeostasis of our body, and their alteration can be the cause of human diseases, not only infections but also metabolic diseases and cancers. Among many places in our body contacting to microbes, we are interested in the host-microbe interaction on mucociliary epithelia, mainly available in the airway. We are investigating the role of genes involved in making a cilia, the major physical barrier to clean up microbes in the airway, and secreting a mucus, the major component in mucociliary epithelia that contacts microbes.