1주차 _ 열린 세미나: 성균관대 생명과학과, 김준호 교수

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작성자 관리자 댓글 0건 조회 126회 작성일 21-08-31 13:25


이번주 첫 열린 세미나에서는 이번 학기 우리과에 새로 임용되신 김준호 교수님이 강연을 해주십니다. 김준호 교수님은 특이하게 컴퓨터를 전공하여 생명과학 연구에 접목하셨습니다. 점점 더 많은 학생들이 컴퓨터 복수 전공을 고민하고 있다고 들었습니다. 그리고 생명정보학이라는 분야에 관심을 갖고 있는 학생들도 많을 것입니다. 김준호 교수님이 생명정보학이라는 새로운 연구 도구를 사용하여 어떤 재밌는 생명 현상을 연구했는지 배우는 기회가 되기 바랍니다.



Towards Translational Genomics: Establishing the role of somatic mutations in human brain diseases

With advances in next-generation sequencing (NGS) technologies, somatic mutation analysis has made great strides in establishing a comprehensive description of genomic changes in cancer over the past decade. International collaborative efforts such as The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) have been made to construct the landscape of somatic mutations in various cancer types, leading to unprecedented knowledge of the somatic mutations and their underlying mechanisms.

Recent analyses of somatic mutations have begun to be made in non-cancerous diseases, especially in brain diseases. Unlike cells in other tissues, differentiated neurons in the brain are rarely replaced and regenerated during the course of a person’s life, so that somatic mutations in those cells may critically affect the function of neurons and even brain circuits. Recent studies have demonstrated that somatic mutations occurring during brain development do actually cause multiple neurodevelopmental diseases, supporting a new pathogenesis of brain disorders. To facilitate the understanding of the role of somatic mutations in brain diseases, the international consortium—the Brain Somatic Mosaicism Network (BSMN)—has initiated and provided great resources to exploit somatic mutations in neurotypical individuals and brain disease patients. However, due to the lack of specialized bioinformatic tools for detecting rare somatic mutations in tissues without clonal expansion, somatic mutations in brain have not been comprehensively explored yet.

In this seminar, the speaker will describe the challenges for somatic mutation analysis in the brain and recent efforts to address them. Different sequencing approaches and developed bioinformatic methods for identifying rare somatic mutations in low fraction of cell population will be introduced. Lastly, the speaker will discuss the application of somatic mutation detection for therapeutic development, such as antisense oligonucleotides.




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