総説 遺伝医学アップデート：基礎医学から臨床現場まで
（5）単一遺伝子異常による糖尿病に対する個別化医療
2023 年 93 巻 5 号 p. 103-112
詳細
2023 年 93 巻 5 号 p. 103-112
Maturity-onset diabetes of the young (MODY) is the most prevalent form of early onset diabetes patients with caused by a single gene disorder.
The number of patients with MODY in Japan is estimated to be more than 12,000. MODY1, MODY2, and MODY3 are the most prevalent types of MODY, and are good indications for precision medicine, which results in improved prognosis and medical cost-effectiveness associated with MODY. We have provided a basis for genetic diagnosis and treatment of MODY using precision medicine. Improving the quality of life in patients with MODY by promoting the use of of precision medicine is an urgent task in Japan.
