is a Japanese

physician A physician (American English), medical practitioner (Commonwealth English), medical doctor, or simply doctor, is a health professional who practices medicine, which is concerned with promoting, maintaining or restoring health through th ...

and medical geneticist who discovered an autosomal dominant disorder,

Kabuki syndrome Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is ...

, also known as

Niikawa-Kuroki syndrome Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is ...

Contribution

Niikawa made an important contribution in the field of

medical genetics Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the caus ...

. In 1981, he discovered a novel syndrome,

, and later he and his colleagues also identified a gene for the syndrome. In 2006, his research group identified a single nucleotide polymorphism (SNP) in the

ABCC11 ATP-binding cassette transporter sub-family C member 11, also MRP8 (''Multidrug Resistance-Related Protein 8'') is a membrane transporter that exports certain molecules from inside a cell. It is a protein that in humans is encoded by gene ''ABCC1 ...

gene is the determinant of human earwax type.

Biography

Niikawa obtained his medical degree in 1967 from Hokkaido University School of Medicine.Dr. Norio Niikawa
/ref> After residency in

Pediatrics Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until th ...

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. He led several medical students and researchers, including

Naomichi Matsumoto is a Japanese physician and medical geneticist who identified several causative genes for human diseases, including Sotos syndrome (2002), Marfan syndrome type II (2004), Ohtahara syndrome (2008), West syndrome (2010), Microphthalmia with limb ...

. 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 The (HSUH) is a private university in Tobetsu, Hokkaido, Japan, established in 1974. The president is Norio Niikawa. Organization Undergraduate *Pharmaceutical science *Dentistry *Nursing & social services *Psychological science *Rehabilitatio ...

, where he served as President of the University from 2010 to 2016.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―

Awards and honors

* 2006 Prize for Science and Technology (Research Category),

MEXT The , also known as MEXT or Monka-shō, is one of the eleven Ministries of Japan that composes part of the executive branch of the Government of Japan. Its goal is to improve the development of Japan in relation with the international community. ...

* 2008 Academic Award, Japan Society of Human Genetics

References

{{DEFAULTSORT:Niikawa, Norio 1942 births Living people Japanese pediatricians Japanese geneticists Hokkaido University alumni People from Hokkaido