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 - Basic Medicine (Core Departments) - Congenital Anomaly Research Center
Congenital Anomaly Research Center
Approximately 3% of newborn babies suffer from congenital anomalies (birth defects), which is a serious burden for patients and their families. Many congenital anomalies are assumed to be caused by the interaction of gene mutations and environmental factors, but the etiology and pathogenetic mechanisms remain to be clarified for most birth defects. In our laboratory, interdisciplinary research approaches are being undertaken to elucidate the causes and pathogenesis of birth defects and to attempt to identify some preventive measures.

  Masatoshi Hagiwara
Director and Professor
Research and Education
This Center has the largest collection of human embryo specimens in the world comprising of over 44,000 therapeutic abortuses. Most of the specimens are between the 3rd and 8th week following fertilization, which is the critical period of teratogenesis. In the Kyoto Collection of Human Embryos, an appreciable number of malformed embryos are included, which provide a unique opportunity to study the early stages of abnormal morphogenesis. A variety of research projects are at present being undertaken on the embryo collection.

1) Pathological and molecular cell biology analyses of human malformations
Among the early embryo population, many malformations have been demonstrated to be present several times more frequently than in the newborn population. We are in the process of investigating the early pathogenetic process of various malformations, such as neural tube defects, holoprosencephaly and oral clefts. Where possible, the genes of abnormal embryos are analyzed by molecular methods.

2) 3D database of human prenatal development
Using the magnetic resonance (MR) microscope, a 3D database of normal and abnormal human embryos is in the process of being established ( This database will be useful not only in the study of human embryology but also for future gene mapping studies in human development. This is a collaborative research with Prof. Katsumi Kose of Tsukuba University and has been funded by the "Bioinformatics R & D (BIRD)" Project of the Japan Science and Technology Agency (2005-2010).

3) Genetic epidemiological study of the etiology of human birth defects
Genetic epidemiological studies can be undertaken more efficiently in the embryo population than in newborns, since the prevalence rates of various malformations are much higher in embryos. To date, we have identified the association between neural tube defects and maternal hyperthermia and also clarified that more than 90% of embryos with serious malformations are spontaneously aborted early in the gestation period.

4) Experimental studies of abnormal morphogenesis
The pathogenetic mechanisms and preventive measure of birth defects are being investigated using in vivo and in vitro experimental systems.

5) Normal development of human embryos
We have identified some important facts about human morphogenesis, which have corrected some established theories of development. These include the following: (a) neural tube closure in human embryos is initiated at multiple sites; and (b) apoptosis or “programmed cell death” is not a necessary prerequisite for palate fusion.

6) Development of a multimedia tutorial program for human embryology
Using the human embryo data, we are developing a novel tutorial program of human embryology with the aid of computer graphics and other multimedia technologies. This is a collaboration with the Academic Center for Computing and Media Studies of Kyoto University.

Congenital Anomaly Research Center
Professor Masatoshi Hagiwara
Shigehito Yamada

Tatsuaki Tsuruyama
TEL +81-75-753-4345
FAX +81-75-753-4621
An 8-week human embryo in the amniotic sac
Computer graphic images of human embryonic development between the 4th and 8th weeks following fertilization
A 7-week embryo and the 3D reconstructed image of its brain
MR images of 6-, 7- and 8-week embryos
Sectional MR images of a 7-week embryo
Histology lab with serial histological sections of 1,000 embryo cases
Recent Publications
1. Yamada S, Takakuwa T. Introduction: Overview of development in human embryos. In: The Human Embryo. ISBN 978-953-307-752-9. InTech publisher. March, 2012 pp3-20
2. Yamada S, Nakashima T, Hirose A, Yoneyama A, Takeda T, Takakuwa T. Developmental Anatomy of Human Embryo. In: The Human Embryo. ISBN 978-953-307-752-9. InTech publisher. March, 2012 pp113-126
3. Kagurasho M, Yamada S, Uwabe C, Kose K and Takakuwa T. Movement of the external ear in human embryo. Head & Face Medicine 2012, 8:2.
4. Kameda T, Yamada S, Uwabe C, Suganuma N. Digitization of clinical and epidemiological data from the Kyoto Collection of Human Embryos: maternal risk factors and embryonic malformations. Congenital Anomlaies, 2012 Mar;52(1):48-54.
5. Nakashima T, Hirose A, Yamada S, Uwabe C, Kose K, Takakuwa T. Morphometric analysis of the brain vesicles during the human embryonic period by magnetic resonance microscopic imaging. Congenital Anomlaies, 2012 Mar;52(1):55-8
6. Hirose A, Nakashima T, Yamada S, Uwabe C, Kose K, Takakuwa T. Embryonic liver morphology and morphometry by magnetic resonance microscopic imaging. Anat Rec (Hoboken). 2012 Jan;295(1):51-9.