Medical Research Institute - Department of Advanced MedicineDivision of Genomic Medicine



A genome is a complete set of the genes of living organisms, and all diseases are caused by the interactions between the individual genome and the surrounding environment. Hereditary diseases develop when dysregulation of the genomic system occurs due to gene mutations and chromosomal abnormalities; thus, they can provide us with essential perspectives for understanding the structure and function of the human genome.
Cancer is a genomic disease caused by an accumulation of somatic mutations, and interestingly, hereditary disease and cancer share the central molecular pathways (developmental pathways). In our division, we provide genomic analysis for patients visiting Kanazawa Medical University Hospital for heritable diseases and cancer. We are also working on developing new genomic mutation analysis methods and studying how abnormalities of the genome system affect the human body.

Contact Information

TEL: 076-286-2211(内線8353) / FAX: 076-286-5002 / Email:


Professor and Chair

  • NIIDA Yo Niida Photo%e3%80%802018-2

Senior Assistant Professor

  • OZAKI Mamoru

Assistant Professor

  • URA Hiroki
  • TOGI Sumihito


  • TAKASE Etsuko

Research Achievements

Research Activities

  • Niida Y, Ozaki M, Shimizu M, Ueno K, Tanaka T. Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern. Cytogenet Genome Res. 2018;154(3):137-146.
  • Niida Y, Inoue M, Ozaki M, Takase E. Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model. Cytogenet Genome Res. 2017;153(2):56-65.
  • Niida Y, Sato H, Ozaki M, Itoh M, Ikeno K, Takase E. Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature. Cytogenet Genome Res. 2016;149(4):247-257.
  • Niida Y, Ozaki M, Inoue M, Takase E, Kuroda M, Mitani Y, Okumura A, Yokoi A, Fujita S, Yamada K. CHIPS for genetic testing to improve a regional clinical genetic service. Clin Genet. 2015 Aug;88(2):155-60.
  • Niida Y, Wakisaka A, Tsuji T, Yamada H, Kuroda M, Mitani Y, Okumura A, Yokoi A. Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. J Hum Genet. 2013 Apr;58(4):216-25