Graduate School of Medicine ＞ Medical Sciences
＞ Medical Genetics



Professor: Yoshimitsu Fukushima
Associate Professor: Akihiro Sakurai
Assistant Professor: Keiko Wakui, Yoko Narumi

Summary of Activity
As medical genetic technology advances, the primary structure of the human genome has been clarified. However, a number of disease mechanisms remain not wholly clear. We investigate a human abnormal chromosome structure and genetic disorders with various molecular cytogenetic or molecular genetic approaches.

Also the division of clinical and molecular genetics at Shinshu University hospital is moving closer together, therefore we are putting effort into building clinical genetics systems in Japan and educating people on genetic.

This course is recruiting doctoral students.
Please contact us if interested.


Research Projects
Our research projects are as follows:

  1. Discovery of novel genes of genetic diseases
  2. Cytogenetic array analysis of chromosomal abnormality
  3. 3D-FISH analysis for gene-gene interaction
  4. ELSI of genetics
References
  1. Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N. (2010) A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. Am J Med Genet A. 152A(6):1333-46.

  2. Sakurai A, Murakami A, Sano K, Uchino S, Fukushima Y. (2009) Unusual clinical and pathological presentation of a neuroendocrine tumor in a patient with multiple endocrine neoplasia type 1. Endocr J;56(7):887-95.

  3. Kosho T. (2008) Care of children with trisomy 18 in Japan. Am J Med Genet A.;146A(11):1369-71.

  4. Sakurai A, Hashizume K, Fukushima Y. (2008) Facial angiofibroma as an initial manifestation in multiple endocrine neoplasia type 1. Intern Med;47(11):1067-8.

  5. Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y. (2008) De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. Clin Dysmorphol.17(1):31-4.

  6. Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y. (2007) Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. Am J Med Genet A.;143A(21):2598-603.

  7. Fukushima Y. (2005) The International HapMap Consortium (173 persons including Fukushima Y): A haplotype map of the human genome. Nature 437:1299-1320, Guidelines on Genetic Testing. JMAJ (Japan Medical Association Journal) 48:429-431.

  8. Kosho T, Takahashi J, Ohashi H, Nishimura G, Kato H, Fukushima Y. (2005) Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. Am J Med Genet 138A: 282-287.

  9. Wada T, Sugie H, Fukushima Y, Saitoh S. (2005) Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked -thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. Am J Med Genet 138A:18-20.

  10. 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.