ヒトは30億塩基対からなるゲノムによって、その遺伝的背景が決まっています。そして、そのゲノムのほんの一部の変化によって、多くの遺伝性疾患は発症します。分子生物学部では、単一遺伝子の変異によって発症すると考えられている遺伝性不整脈や心筋症などの遺伝性循環器疾患について、次世代シークエンサー等の機器を用いて、その遺伝的な原因を明らかにします。そして遺伝的背景生じる疾患発症へのメカニズムを電気生理学的、生化学的手法を用いて明らかにし、そこで得られた知見を元に、有効な治療薬の開発に結びつけていきます。
　また単一遺伝子によって発症する疾患のみならず、ゲノムワイド関連解析などの手法を用い、弱い作用を持つ遺伝子多型の違いによって、どのように循環器疾患発症リスクが異なっているのか、解析を進めていきます。
　さらにCrisper-Cas9システムを用いたゲノム編集技術を導入することにより、センター内における疾患モデル動物作成の支援を行っています。

1. J波症候群の患者に、一過性外向きカリウム電流チャネルをコードするKCND3の新規突然変異を同定した。電気生理学的な機能解析で、機能獲得型変異であることを明らかにし、キニジンの有効性を証明した。
2. 肥大型心筋症患者の症状と病理像・遺伝型との関連を調べるため、全エクソン解析を実施した。
3. カテコラミン誘発性多型性心室頻拍 (CPVT) 患者の登録を行い、遺伝学的背景を明らかにするとともに、新規治療薬候補のスクリーニングを実施した。

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