標的の発見からヒト遺伝子の臨床薬の開発まで
Katerina Trajanoska1, Claude Bhérer1, Daniel Taliun1
1Canada Excellence Research Chair in Genomic Medicine, Department of Human Genetics, Faculty of Medicine and Health Sciences, Victor Phillip Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, Quebec, Canada.
Nature
|August 23, 2023
まとめ
ヒトの遺伝学の研究は 希少かつ一般的な疾患の 40 種類の新しい治療法を生み出し 遺伝子発見から薬の承認までの平均時間は 25 年です 大規模な遺伝子研究とバイオバンクは 薬物の標的の特定と開発を加速します
科学分野:
- 遺伝学とゲノミクス
- 薬理学について
- 薬物開発
背景:
- 何十年にもわたるヒト遺伝学とゲノミクスへの投資は 革新的な治療法を約束しました
- 他の治療分野に焦点を当てたのがん治療は除外された.
研究 の 目的:
- 遺伝子とゲノムに関する投資が 承認された治療法に どの程度 応用されているかを評価する.
- 新薬開発における遺伝子観察の役割を特定する.
主な方法:
- 新しい薬の標的と承認された治療法につながる ゲルムラインの遺伝子観察を 系統的に探す.
- 遺伝子標的の発見と薬物の承認の間の時間差の分析
- 稀な疾患に対する治療の特徴
主要な成果:
- 36のまれな疾患と4の一般的な疾患の新たな治療法をもたらした 40の生殖遺伝子の観察を特定した.
- 遺伝子標的の発見から 薬の承認までの平均時間は 25年でした
- 希少疾患の治療はしばしば機能喪失の変異を補う.一般的な状態の治療は,保護的変異を模倣する.
結論:
- 大規模なバイオバンクベースの遺伝研究は 薬物の標的を特定し 検証する上で強力です
- 遺伝学では 臨床開発を最適化して 可能性の高い反応者を特定できます
- 薬の開発における遺伝学の潜在力を実現するために,多様でフェノタイプのコホートと利益共有の枠組みへの投資は不可欠です.
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