Graduate School of Medicine ＞ Human Sciences
＞ Medical Genetics



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

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.
http://www.shinshu-u.ac.jp/faculty/medicine/chair/PM/GC/admission.htm

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.

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.