Basic Medicine, Public Health
Pediatric Endocrinology and Environmental Medicine
To Watch for Sound Growth and Development of Children (Research for Pediatric Endocrinology and Japan Environmental and Children’s Study)
Medical Sciences Course
- Master / Doctoral Degree
- FUJIWARA, Ikuma
Professor, M.D. Ph.D.
ifujiwara-endo*umin.ac.jp (Please convert "*" into "@".)
- Genetic analysis of osteogenesis imperfect and uncovering of new causal genes
- Establishing new treatments for osteogenesis imperfecta
- Clinical research for pediatric endocrinology, diabetes, and bone diseases
pediatric endocrinology, genetic skeletal disorders, diabetes mellitus, osteogenesis imperfecta, type 1 collagen
genetic analysis, bone mineral density, medical therapy
We are working on Japan Environmental and Children’s Study. We also carry out clinical research for pediatric endocrinology, diabetes, and congenital bone diseases in addition to genetic analyses for those disorders. Among skeletal disorders, we focus on osteogenesis imperfecta and study for its genetic background and the efficacy of bisphosphonate treatment. We have found that kinds of mutation in type 1 collagen genes do not affect the treatment efficacy on bone mineral density. Around 20 % of the patients have no mutation in type 1 collagen genes, and we are now trying to find other genetic aberrations in osteogenesis imperfecta by whole exome sequencing.
Figure 1. Pathogenesis of osteogenesis imperfecta
Figure 2. Efficacy of pamidronate in patients with osteogenesis imperfecta
- Fujiwara I, et al. Mutations in PIGL in a patient with hyperphosphatasia mental retardation syndrome. Am J Med Genet Part A, 2015 (in press).
- Kaga A, et al. Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses. Cong Anomal, 2015 (in press).
- Takagi M, et al. Heterozygous defects in PAX6 gene and congenital hypopituitarism. Eur J Endocrinol 172(1);37-45, 2015
- Kamimura M, et al. Glycemic control in type 1 diabetic patients following the Great East Japan Earthquake and Tsunami. J Japan Diab Soc 57(1): 16-21, 2014 [Jpn]