DIAN Japan study : moving forward to genome-based medicine

Takeshi Ikeuchi^1）, Ryoko Ihara^2）

^1）Department of Molecular Genetics, Brain Research Institute, Niigata University
^2）Department of Neurology, Tokyo Metropolitan Medical Center for Gerontology

Dominantly inherited Alzheimer’s disease （DIAD） is a hereditary form of AD, which is caused by mutation in one of three genes : APP, PSEN1, and PSEN2. Children of an affected DIAD parent have a 50% risk of inheriting a causal mutation. There was a limitation of DIAD study because of small sample sizes ; hence, the scientific significance of DIAD has not been fully explored. To overcome this issue, the Dominantly Inherited Alzheimer’s Network （DIAN） was established in 2008 with the aim of developing a global registry and sample repository of asymptomatic and symptomatic DIAD family members. DIAN participants are longitudinally followed with the uniform assessments of clinical, neuroimaging, and fluid biomarker measures at international clinical sites. DIAN-Japan study was launched in 2014 as a DIAN international site. This review describes the unique attributes of DIAN as a model of AD biomarker study and the recent progress of prevention trials of DIAN trial unit（TU）.

Address correspondence to Dr. Takeshi Ikeuchi, Department of Molecular Genetics, Brain Research Institute, Niigata University（1-757 Asahimachi, Niigata 951-8585, Japan）