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Category CDBセミナー
Date and Time 2017-05-15 16:00 - 17:00
Venue Seminar Room A7F
Speaker Shinya Yamamoto
Affiliation Department of Molecular & Human Genetics and Program in Developmental Biology, Baylor College of Medicine, USA
Title Drosophila genetics for human biology and medicine
Poster click here to download(PDF)
Host Mitsuru Morimoto
Summary Many rare undiagnosed diseases are caused by mutations found in the patients’ genomic DNA. Identification of mutations responsible for these disorders can facilitate the understanding of biological functions of these genes in human biology. However for many neurological and most psychiatric diseases, the molecular causes are yet to be identified. By performing genetic screens in Drosophila, characterizing the in vivo function of novel genes in development, function, and maintenance in the fly nervous system, and further identifying patients with rare deleterious variants in their human homologs, we have been successful in identifying a number of new disease causing genes in human (ANKLE2 in microcephaly: Yamamoto et al., 2014 Cell, NRD1 & OGDHL in neurodegeneration: Yoon et al., 2017 Neuron). More recently, we developed a novel method to “humanize” a Drosophila gene (Bellen and Yamamoto, 2015, Cell) to study the functions of newly identified human disease-liked genes and variants in vivo in flies (TM2D3 in Alzheimer’s disease: Jakobsdottir et al., 2016, PLoS Genetics, EBF3 in a novel neurodevelopmental disorder: Chao et al., 2017, AJHG).

In this seminar, I will discuss how both forward and reverse genetic strategies can aid in the function annotation of novel disease-linked human genes and variants, and will emphasize the importance and value of team science in biomedical research.
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