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Medical Genetics

Staff List

Senior Assistant Professor WAKUI Keiko
Assistant Professor TAKANO Kyoko


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Summary of Activity

We have two courses, they are "Course of Genetic Counseling" and "Course of Medical Genetics Research ".
These courses are recruiting master's degree students.
Please contact us if interested.

Research Projects

1)Course of Genetic Counseling
The purpose of this course is the training of Certified Genetic Counselors.
It was the first training facility recognized in our country.
In addition to the subject of the prescribed master's course, through lecture of medical genetics and the practice of genetic counseling, you can qualify to take " the Certified Genetic Counselors examination" after complete this course.
Please see the homepage for details.

2)Course of Medical Genetics Research
Medical genetics research concerning various genetic disorders through using molecular cytogenetic and molecular genetic approaches.
Positional cloning by analysis of the breakpoint accompanied by balanced reciprocal translocation in cases of Mendelian disease.

Major Publications

1. Tanaka K, Sekijima Y, Yoshida K, Tamai M, Kosho T, Sakurai A, Wakui K, Ikeda SI, Fukushima Y. (2013) Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan. J Hum Genet. in press

2. Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K. (2012) Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization. Chromosome Res. 20:659-672

3. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. (2012) Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 44:376-378.

4. Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y. (2012) Myelodysplastic syndrome in a child with 15q24 deletion. Am J Med Genet A. 158A:412-416.

5. Sakurai A, Murakami A, Sano K, Uchino S, Fukushima Y. (2009) Unusual clinical and pathological presentation of neuroendocrine tumor associated with multiple endocrine neoplasia type 1. Endocr J 56: 887-895

6. Wada T, Fukushima Y, Saitoh S. (2006) A new detection method for ATRX gene mutations using a mismatch-specific endonuclease. Am J Med Genet A. 140:1519-1523.

7. The International HapMap Consortium [Clayton EW. (Fukushima Y:14/160)] (2004) Integrationg ethics and science in the International HapMap Project. Nature Reviews/Genetics 5:467-475

8. Fukushima Y, Sakurai A. (2004) Comprehensive genetics clinic for familial tumors: proposal for a suitable system in Japan. Int J Clin Oncol. 9:304-307.

9. Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, Okamoto N, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y. (2002) The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenet Genome Res. 99:276-284.

10. Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y. (2002) Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression. J Hum Genet. 47:511-516.

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