Pediatrics

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The most important thing in the Pediatrics is “development”. A number of pediatric diseases are derived from the disorders during developmental process. Therefore, investigations on them should lead to the exploitation of new diagnosis and treatment for intractable diseases. By imposing close relationship between clinic and laboratory on our research, we would like to apply our outcomes obtained from clinic and laboratory to children with intractable diseases.

Research and Education

We perform the clinical and basic research for clinical application to intractable pediatric diseases. First of all, we have several projects on stem cell research and regenerative medicine. We are using a wide variety of stem cells such as hematopoietic stem cells, skeletal or cardiac muscle stem cells and neural stem cells, especially induced pluripotent stem cells (iPSC) discovered by Dr. Yamanaka. We have developed a new immunocompromised mouse, NOG mouse, which permits the engraftment and reconstitution of transplanted human cells or tissues, which can be utilized for in vivo experiments of stem cell-derived products. We are also using NOG mouse to explore the cancer stem cells on pediatric hematology and oncology diseases.
In addition, we are one of the top centers for autoinflammatory diseases and hemophagocytic lymphohistiocytosis in Japan, and working on clinical diagnosis as well as research development of diagnostic procedures and therapies. Finally, we are also performing clinical research in the field of Neonatology, which is still a “cutting edge” in Japan.

Figure1 english ①About 30% of CINCA syndrome is caused by somatic mosaicism of NLRP3 mutations.
②NGS (next generation sequencing) can detect low level somatic mosaicism of NLRP3 mutations. (Izawa et al. DNA Res.2012)

r-041-2 The NOG xenograft model recapitulates leukemic evolution from TAM * (Saida et al. Blood. 2013)
①Establishment of a TAM xenograft model using NOG mice
②Schematic presentation of ML-DS development based on this model
* TAM ; Transient abnormal myelopoiesis

Recent Publications

1.Saida S, Watanabe K, Sato-Otsubo A, Terui K, Yoshida K, Okuno Y, Toki T, Wang R, Shiraishi,Y, Miyano S, Kato I, Morishima T, Fujino H,, Umeda K, Hiramatsu H, Adachi S, Ito E, Ogawa S, ItoM, Nakahata T, Heike T :Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome. Blood. In press.
2.Awaya T, Kato T, Mizuno Y, Chang H, Niwa A, Umeda K, Nakahata T, Heike T.: Selective development of myogenic mesenchymal cells from human embryonic and induced pluripotent stem cells. PLoS One. 2012
3.Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, Saito M, Yasumi T, Takaoka Y, Nakahata T, Mizukami T, Nunoi H, Kiyohara Y, Yoden A, Murata T, Sasaki S, Ito E, Akutagawa H, Kawai T, Imai C, Okada S, Kobayashi M, Heike T.: Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood. 2012
4.Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, Aksentijevich I, Yasumi T, Nakahata T, Heike T, Nishikomori R, Ohara O.: Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res. 2012
5.Matsukura T, Kawai M, Marumo C, Iwanaga K, Yoshida K, Shibata M, Niwa F, Hasegawa T, Heike T.: Diagnostic value of salivary cortisol in the CRH stimulation test in premature infants. J Clin Endocrinol Metab. 2012

Pediatrics

Associate Professor: Masahiko Kawai, Ryuta Nishikomori
Senioir Lecture: Takahiro Yasumi, Hidefumi Hiramatsu
Assistant Professor: Katsutsugu Umeda, Fusako Niwa, Siro Baba, Takashi Matsukura, Tomoki Kawai, Takuya Hirata, Atsushi Yokoyama, Kazushi Izawa, Kogoro Iwanaga, Itaru Kato, Takeshi Yoshida
TEL: +81-75-751-3290
FAX: +81-75-751-2361
e-mail: heike317@kuhp.kyoto-u.ac.jp
URL: http://www.kuhp.kyoto-u.ac.jp/~pediatrics/