EAPSI: Epidemiological Study and Analysis of Moyamoya Disease in Taiwan Population

Gui Tina, Oxford MS

Investigators

Abstract

Moyamoya syndrome is a rare disease first described in 1957. To the best of our knowledge, this disease tends to run in families and primarily affects children. Previous studies have proven regional and temporal distinctions in epidemiological features of Moyamoya disease, but population-based studies in regions other than Japan are limited. Although there are a variety of available Moyamoya disease database in Asia, there is no tool that can help researchers analyze the gene-disease correlations and predict the most effective genetic components accurately. This research will design and develop a gene-disease predicting tool to enable efficient processing of large-scale biological databases efficiently. Collaboration with Professor Eric Y. Chuang, an expert in cancer biology, and specialists from the Institute of Epidemiology and Preventive Medicine at the National Taiwan University will benefit researchers to study inherited genetic conditions and solidify a professional network in the field of rare genetic disease between the United States and Taiwan. Moyamoya disease (MMD) can be passed through generations in families; up to 15 percent of patients with MMD have one or more family members with the condition. In previous genome-wide association study, RNF213 and ACTA2 are the first identified susceptibility genes for MMD. However, the cause and inherent pattern remain unknown. This project will design and develop a standalone gene-disease predicting tool that allows general scientists to process large-scale biological data efficiently, and provide high level biclustering methods for discovering groups of correlated genes potentially associated to disease and condition under investigation. During this project we will better understand the relationships among affected genes with MMD and associated diseases as well as the process of designing large-scale information technology and to create a framework to help Taiwanese researchers facilitate this kind of work. This project is not just limited to MMD but also covers other types of genetic disease for future study. This award under the East Asia and Pacific Summer Institutes program supports summer research by a U.S. graduate student and is jointly funded by NSF and the Ministry of Science and Technology of Taiwan.