Defective DNA Repair and Human Disease

あらゆる細胞にとって損傷DNAを効率よく修復する能力は重要である。それがないと、細胞の遺伝的な内容はすぐに不安定化になり、細胞のあらゆる過程が変化し、ついにはがん化をもたらす。DNAの損傷は頻繁に起きており、とくに細胞分裂前にゲノムを忠実に複製する必要のある増殖細胞では、カタストロフ的な効果をもたらす。私たちの研究の中心は、DNA修復の機構と、その遺伝性乳ガン、ファンコニ貧血、神経疾患などのヒト疾患との関連とを理解する事にある。
A critical issue in every cell of any organism is the ability to promote the efficient repair of damaged DNA. Without effective DNA repair, the genetic content of each cell will quickly become unstable, leading to changes that affect all cellular processes and may ultimately cause tumour formation. DNAdamage occurs often and with potentially catastrophic effect, especially in growing cells that need to faithfully replicate their genome prior to cell division. This is the reason why efficient DNA repair processes are so critical for cell survival. Our research is focused on understanding the mechanisms of DNA repair, and their relationship to human diseases such as inheritable breast cancers, Fanconi anemia and/or neurological disorders.