Department of Molecular Genetics and Endocrinology
Department of Molecular Genetics and Endocrinology
Projects
Rare and Undiagnosed genetic Disorders
The Japan Agency for Medical Research and Development launched the Initiative on Rare and Undiagnosed Diseases (IRUD) in 2015. IRUD is trying to construct a comprehensive network between medical centers treating intractable diseases and an international data-sharing framework. Osaka Women’s and Children’s Hospital contributes to IRUD as a major medical center in the Kansai area since 2015. Many patients with various genetic disorders visit our hospital. Our department extensively carry out molecular diagnosis of these patients. Analysis centers apply next-generation sequencing systems for undiagnosed registrants. Half of the patients come to final diagnosis. We have contributed for elucidating some novel pathogenic genes.
Our research institute investigates the molecular and cellular bases of diseases and developing novel approaches to diagnosis and treatment. Our medical center promotes appropriate cooperation between clinical departments and the research institute. Model organisms are important tools in rare disease research. In the future, we will try to create a genetically susceptible model that will act as a useful tool to predict the effects of treatment on these patients.
CDG diagnosis support project
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. We are developing various MS-based methods for glycobiology and proteomics.
Applying the method to molecular diagnosis, we have reported that the Congenital Disorders of Glycosylation (CDG) to account for 1 % of the patients with unknown causes of developmental disorders in Japan.
Cell-to-Cell Fusion
Cellular fusion is an intriguing process in the differentiation of trophoblasts, myoblasts and osteoclasts. We identified an actin-binding protein calponin-3 to be involved in cytoskeletal rearrangement required for cell fusion. The knock-out mice of this molecule show various types of “body wall closure defects”, which are by far the most frequent among congenital anomalies, i.e. neural tube defects (NTDs), heart anomaly, omphalocele, cleft palate and so on, in humans. We focus on NTDs and are going to build an experimental system to look for a method of preventing the defects.
Members
| Head |
Masanobu Kawai, M.D.,Ph.D. |
|---|---|
| Chief Scientist |
Shibukawa Yukinao, M.D.,Ph.D. |
| Research Fellow | |
| Technical Assistant | Etsuko Daimon |
| Natsuko Yamazaki |
Publications
2025-2000
Contact
Masanobu Kawai, M.D., Ph.D.)
Osaka Women’s and Children’s Hospital
840 Murodo-cho, Izumi, Osaka 594-1101, Japan
E-mail: kawaim@
Please add “wch.opho.jp” following @.