Norio Niikawa

Norio Niikawa (新川 詔夫, Niikawa Norio, born May 8, 1942) is a Japanese physician and medical geneticist who discovered an autosomal dominant disorder, Kabuki syndrome, also known as Niikawa-Kuroki syndrome.[1]

Norio Niikawa
新川 詔夫
Born (1942-05-08) May 8, 1942
NationalityJapanese
Alma materHokkaido University
Known forKabuki syndrome
Earwax gene
Scientific career
FieldsPediatrics
Medical genetics
InstitutionsHealth Sciences University of Hokkaido
Nagasaki University
Geneva University
Hokkaido University
Doctoral studentsNaomichi Matsumoto

Contribution

Niikawa made an important contribution in the field of medical genetics. In 1981, he discovered a novel syndrome, Kabuki syndrome,[2] and later he and his colleagues also identified a gene for the syndrome.[3] In 2006, his research group identified a single nucleotide polymorphism (SNP) in the ABCC11 gene is the determinant of human earwax type.[4]

Biography

Niikawa obtained his medical degree in 1967 from Hokkaido University School of Medicine.[5] After residency in Pediatrics at Hokkaido University Hospital, he worked as a pediatrician in Japan for several years. From 1972 to 1975, Niikawa served as a research associate in the embryology and cytogenetics laboratory at the Department of Gynaecology and Obstetrics in the Cantonal Hospital, Geneva University.

From 1984 to 2007, Niikawa was Professor and Chairman of the Department of Human Genetics at Nagasaki University School of Medicine.[5] He led several medical students and researchers, including Naomichi Matsumoto. After retiring from the position in Nagasaki and becoming Professor Emeritus in 2007, he became Professor and Director at the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, where he served as President of the University from 2010 to 2016.[6]

Awards and Honors
  • 2006 Prize for Science and Technology (Research Category), MEXT
  • 2008 Academic Award, Japan Society of Human Genetics

References
  1. Whonamedit - Norio Niikawa
  2. Niikawa, N.; Matsuura, N.; Fukushima, Y.; Ohsawa, T.; Kajii, T. (1981). "Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency". The Journal of Pediatrics. 99 (4): 565–9. doi:10.1016/s0022-3476(81)80255-7. PMID 7277096.
  3. Ng, S. B.; Bigham, A. W.; Buckingham, K. J.; Hannibal, M. C.; McMillin, M. J.; Gildersleeve, H. I.; Beck, A. E.; Tabor, H. K.; Cooper, G. M.; Mefford, H. C.; Lee, C.; Turner, E. H.; Smith, J. D.; Rieder, M. J.; Yoshiura, K.; Matsumoto, N.; Ohta, T.; Niikawa, N.; Nickerson, D. A.; Bamshad, M. J.; Shendure, J. (2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature Genetics. 42 (9): 790–3. doi:10.1038/ng.646. PMC 2930028. PMID 20711175.
  4. Yoshiura, K.; Kinoshita, A.; Ishida, T.; Ninokata, A.; Ishikawa, T.; Kaname, T.; Bannai, M.; Tokunaga, K.; Sonoda, S.; Komaki, R.; Ihara, M.; Saenko, V. A.; Alopov, G. K.; Sekine, I.; Komatsu, K.; Takahashi, H.; Nakashima, M.; Sosonkina, N.; Mapendano, C. K.; Ghadami, M.; Nomura, M.; Liang, D. S.; Miwa, N.; Kim, D. K.; Garidkhuu, A.; Natsume, N.; Ohta, T.; Tomita, H.; Kaneko, A.; Kikuchi, M.; Russomando, G.; Hirayama, K.; Ishibashi, M.; Takahashi, A.; Saitou, N.; Murray, J. C.; Saito, S.; Nakamura, Y.; Niikawa, N. (2006). "A SNP in the ABCC11 gene is the determinant of human earwax type". Nature Genetics. 38 (3): 324–330. doi:10.1038/ng1733. PMID 16444273.
  5. Dr. Norio Niikawa
  6. 新川詔夫新学長就任挨拶 ―新医療人育成の北の拠点を目指して― Archived 2014-03-11 at the Wayback Machine(in Japanese)
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