Norio Niikawa

was a Japanese physician and medical geneticist who discovered an autosomal dominant disorder, Kabuki syndrome, also known as Niikawa-Kuroki syndrome.

Contribution Niikawa made an important contribution in the field of medical genetics. In 1981, he discovered a novel syndrome, Kabuki 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 gene is the determinant of human earwax type.

Biography Niikawa obtained his medical degree in 1967 from Hokkaido University School of Medicine. 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.

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