세미나/행사

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제목 2016년 04월 27일(수) 생물정보학세미나
작성자 관리자 작성일 2016-04-19

서울대학교 생물정보연구소와 생물정보학 협동과정 공동 주최로 특별 세미나를 아래와 같이 열고자 하오니, 많은 참여 바랍니다.

　

일시: 2016년 4월 27일 수요일 오전 11시

연사: 최무림 (서울대학교 의과대학 의과학과)

장소: 서울대학교 25동 411호

　

[Title] Genetic mechanisms of human disease trait determination

　

[Abstract] Fundamental questions of genetics include how genotype is translated to phenotype, and how to elucidate which genes are essential to sustain a normal life. To address these questions, we actively study human patient genomes, focusing on various diseases as phenotypic outputs. Firstly, we identified interesting cases of gene knockouts that lead to specific phenotype that can be recapitulated in other model systems. These human models provide new insights into the novel gene function and disease pathogenesis mechanisms. Secondly, we explore new genetic pathways that can cause Rett syndrome, a severe neurodevelopmental disorder. A majority, but not all, of RTT syndrome patients carry a loss-of-function mutation in MECP2. From ~40 MECP2 mutation negative patients, we discovered ~20 new candidate genes and analyzed their disease association using a systems biology approach, which may lead to the discovery of new aspects of the disease development.

　

[Education]

Duke University Medical Center, Durham, NC

Ph.D. in University Program in Genetics and Genomics (Dec. 2006)

Mentor: Dr. John Klingensmith

Thesis: ‘On the multiple roles of BMP signaling during mammalian heart development’

Seoul National University, Seoul, Korea

Master of Science in Molecular Biology (Feb. 2000)

Mentor: Dr. Hyune Mo Rho

Thesis: ‘The effect of transcription factor E2F1 on the hepatitis B virus X promoter and human p53 gene promoter’

Seoul National University, Seoul, Korea

Bachelor of Science in Molecular Biology (Feb. 1998)

Mentor: Dr. Hyune Mo Rho

Thesis: ‘Regulatory mechanisms of retinoblastoma protein’

　

[Professional Experiences]

Associate research scientist with Dr. Richard Lifton (Jul. 2010 – Feb. 2013)

Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine

Postdoc associate with Dr. Richard Lifton (Jul. 2007 – Jun. 2008 and Jul. 2009 – Jun. 2010)

Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine

Postdoc fellow with Dr. Richard Lifton (Jul. 2008 – Jun. 2009)

Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine

　

[Recent Publications]

1. Lee, S.,* Moon, J. S.,* Lee, C-R.,* Kim, H-E., Baek, S-M., Hwang, S., Kang, G. H., Seo, J. K., Shin, C. H., Kang, H. J., Park, S. G.,† Ko, J. S.,† Choi, M.† A de novo variant in CTLA-4 confers responsiveness to abatacept in a patient with severe autoimmune features. J Allergy Clin. Immunol. (2015) in press. *,†: equal contributions

2. Lee, J. S.,* Lee, S.,* Lim, B. C., Kim, K. J., Hwang, Y. S., Choi, M.,† Chae, J. H.† AlphathalassemiaX-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. Gene (2015) 569:318-22. *,†: equal contributions

3. Scholl, U. I., St�lting, G., Nelson-Williams, C., Vichot, A. A., Choi, M., et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife (2015) 4:e06315.

4. Cromer, M. K., Choi, M., Nelson-Williams, C., Fonseca, A. L., Kunstman, J. W., Korah, R. M., Overton, J. D., Mane, S., Kenney, B., Malchoff, C. D., Stalberg, P., Akerstr�m, G., Westin, G., Hellman, P., Carling, T., Bj�rklund, P., Lifton, R. P. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. Proc. Natl. Acad. Sci. USA. (2015) 112:4062-7.

5. Walker, W. E., Kurscheid, S., Joshi, S., Lopez, C. A., Goh, G., Choi, M., et al. Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers. J Virol. (2015) 89:5502-14.

6. Locke, A. E. et al. Genetic studies of body mass index yield new insights for obesity biology. Nature (2015) 518:197-206.

7. Shungin, D. et al. New genetic loci link adipose and insulin biology to body fat distribution. Nature (2015) 518:187-96.

8. Yang, J., Wang, S. K., Choi, M., Reid, B. M., Hu, Y., Lee, Y. L., Herzog, C. R., Kim-Berman, H., Lee, M., Benke, P. J., Lloyd, K. C., Simmer, J. P., Hu, J. C. Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. Mol Genet Genomic Med.(2015) 3:40-58.

9. Seo, J., Choi, I. H., Lee, J. S., Yoo, Y., Kim, N. K., Choi, M., Ko, J. M., Shin, Y. B. Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. J Hum Genet.(2015) 60:213-5.

10. Kunstman, J. W., Juhlin, C. C., Goh, G., Brown, T. C., Stenman, A., Healy, J. M., Rubinstein, J. C., Choi, M. et al. Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing. Hum Mol Genet. (2015) 24:2318-29.

　

　

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