곽규범

인사말

곽규범교수

전문분야 |  면역-종양 연구, 생식생리체학, 전장유전체연관연구, 차세대 염기서열법을 이용한 정밀의학
전화번호 | 031-881-7133
E – mail | highko@cha.ac.kr

학력

1978 – 1982 고려대학교 식품공학과 (BS)
1982 – 1984 KAIST 생물공학과 (MS)
1989 – 1995 University of Iowa, Dept. of Microbiology (Ph. D.)
1995 – 1998 Harvard Medical School (Post-Doctoral Fellowship)

주요경력

1984 – 1989 삼성그룹 제일제당 종합연구소 선임연구원
1996 – 1997 New England BioScience Society 회장 역임
1997. 12 New England BioScience Society 회장상 수상
1999 – 2001 울산대학교 면역제어연구센터 연구교수
2001 – 2004 질병관리본부 국립보건연구원 유전체연구부 전사/단백체 연구단 단장
2003. 02 보건복지부장관 표창 (오송 BioExpo의 성공적 개최에 기여)
2002 – 2005 고려대학교 의과대학 외래 부교수
2004 – 2011 차 의과학대학교 의생명과학과 조교수
2005 – 2014 차 의과학대학교 유전자연구기관윤리위원회 전문간사
2007 – 2009 차 의과학대학교 의학전문대학원 미생물학교실 주임교수
2008 – 현재 차 의과학대학교 의생명과학과 M/DEET 상담교수, 취업위원장
2011 – 현재 차 의과학대학교 의생명과학과 부교수
2013 – 현재 BK21plus 생식 생리체학 미래기반 창의인력양성사업단장
2016 – 현재 차 의과학대학교 생명윤리위원회(IRB) 위원장

주요연구내용

1. Post-NGS (next generation sequencing; 차세대 염기서열 분석) 유전체 기능연구
1-1. 한국인에 흔한 악성종양인 유방암, 간암, 위암 등 다인성 복합질환(multi-trait disease, complex disease)을 대상으로 GWAS (genome-wide association study; 전장유전체연관분석)방법으로 발굴한 유의 SNP을 haplotype 분석, haplotype grouping 분석으로 질병 원인(causal) 변이(variant)가 존재할 부분을 NGS로 찾은후 그 기능을 다양한 방법으로 연구한다.
1-2. 한국인 NRNC (Not rare, but not common)질환인 자폐증, 조기폐경 등 삶의 질을 피폐하게 하는 질환의 예측, 진단, 치료, 예후예측에 활용할 수 있는 variant를 SNP/CNV 전장유전체 Chip 이나 NGS로 대량으로 발굴하고 발굴된 후보 variant주에서 기능성(functional) 혹은 질병 원인(causal) 변이(variant)를 생물정보학적으로 예측하여 high through put 방법으로 기능을 연구한다.
2. 제대혈 유래 중간엽줄기세포를 다수 만들어 분화에 미치는 변이체의 기능을 연구
폐기 제대혈에서 다수의 인간유래 줄기세포를 제조하여 분화과정에 미치는 variant의 기능과 분화된 세포에서 발현하는 약물유전체학 등 variant의 기능을 연구한다.
3. CTC (circulating tumor cell; 혈중 부유 암세포)와 CSC (Cancer stem cell; 암줄기세포) 연구
전이암이 발생하기 전에 이미 혈관내나 림프액내에 암세포가 발견된다는 사실은 이미 수십년 전에 보고되었으나 그 희귀성 때문에 연구나 진단에의 활용은 최근에 시작되었음. 혈관내에서 부유하는 암세포의 효과적인 분리와 기능을 연구하기위하여 CTC, CSC 마커를 발굴하고 기능을 연구한다.
4. 동맥경화, 고혈압, 당뇨 등 대사성 질환의 유전체 및 맞춤의학 protocol 개발 연구
현대인의 사망 원인 중 최고는 당뇨 등 대사성질환임. 유전체연구를 기반으로 대사성 질환환자 또는 대사증후군을 (예비환자) 대상으로 예방 및 치료 방법의 선택, 영양섭취 지도, 운동 등 자구 및 대비책의 지도 등 맞춤의학 프로토콜 개발을 연구한다.

[최근6년 논문]

Lee, Y, Kim, C, Park, Y, Pyun, J, Kwack, K. Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients. Genomics, 2016, 108: 209

Kim S, Kwack K. A Fast Comparison Algorithm to Measure the Accuracy of Ortholog Clusters Current Bioinformatics, 2016, 11(3): 324

Park HS, Lim SM, Kim S, Kim S, Kim HR, Kwack K, Lee MG, Kim JH, Moon YW. Pilot Study of a Next-Generation Sequencing-Based Targeted Anticancer Therapy in Refractory Solid Tumors at a Korean Institution. PLoS One. 2016 Apr 22;11(4):e0154133.

Im S, Kim BH, Lee K, Kwack K*, Yim SV, Screening study for genetic polymorphisms affecting pharmakokinetics of simvastatin. Transl Cin Pharmacol 2016; 24(1):43-54

Lee MS, Yu M, Kim KY, Park GH, Kwack K*, Kim KP. Functional Validation of Rare Human Genetic Variants Involved in Homologous Recombination Using Saccharomyces cerevisiae. PLoS One. 2015 May 4;10(5):e0124152.

Kwon AY, Kim GI, Jeong JY, Song JY, Kwack K, Lee C, Kang HY, Kim TH, Heo JH, An HJ. VAV3 Overexpressed in Cancer Stem Cells Is a Poor Prognostic Indicator in Ovarian Cancer Patients. Stem Cells Dev. 2015 Apr 9.

Shin C, Kwack K, Cho NH, Kim SH, Baik I. Sex-specific differences in the association of a common aldehyde dehydrogenase 2 gene polymorphism and alcohol consumption with stroke risk in a Korean population: a prospective cohort study. Nutr Res Pract. 2015 Feb;9(1):79-86.

Pyun JA, Kim SS, Kwack K*. Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure. Menopause 2015 Feb;22(2):212-6.

Park YJ, Won SS, Nam M, Cheong JH, Kwack K*. Interaction between MAOA and FOXP2 in association with autism and verbal communication in a Korean population. J Child Neurol 2014 Dec;29(12):NP207-11.

Kim SS, Shin C, Cho NH, Koh IS, Ko JJ, Kwack K*. ‘Epistasis between SNPs in genes involved in lipoprotein metabolism influences high- and low-density lipoprotein cholesterol levels’ Genes Genomics 2014 Dec;36:809-817

Pyun JA, Kim SS, Cha DH, Kwack K*. Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure. Menopause 2014 Nov;21(11):1249-53.

Pyun JA, Kim S, Cha DH, Kwack K*. Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure. Menopause 2014 Aug;21(8):890-5.

Pyun JA, Kim SS, Kwack K*. Interaction between thyroglobulin and ADAMTS16 in premature ovarian failure. Clin Exp Repro Med 2014 Sep;41(3):120-4.

Kang KW, Lee MJ, Song JA, Jeong JY, Kim YK, Lee C, Kim TH, Kwak KB, Kim OJ, An HJ. Overexpression of goosecoid homeobox is associated with chemoresistance and poor prognosis in ovarian carcinoma. Oncol Rep. 2014 Jul;32(1):189-98.

Pyun JA, Kim SS, Cho NH, Koh IS, Lee JY, Shin C, Kwack K*. Genome-wide association studies and epistasis analyses of candidate genes related to the age at menarche and the age at natural menopause in a Korean population. Menopause 2014 May;21(5):522-9.

Pyun JA, Kim SS, Cha DH, Kwack K*. Polymorphisms within the FANCA gene associate with premature ovarian failure in Korean women. Menopause 2014 May;21(5):530-3.

Park J, Ro M, Pyun JA, Nam M, Bang HJ, Yang JW, Choi KS, Kim SK, Chung JH, Kwack K*. MTHFR 1298A>C is a risk factor for autism spectrum disorder in the Korean population. Psychiatry Res. 2014 Jan 30;215(1):258-9.

Kim KY, Han W, Noh DY, Kang D, Kwack K*. Impact of Genetic Polymorphisms in Base Excision Repair Genes on the Risk of Breast Cancer in a Korean Population. Gene. 2013 Dec 15;532(2):192-6.

Ro MJ, SS Won, Kang HJ, Kim SY, Lee SK, Nam M, Bang HJ, Yang JW, Choi KS, Kim SK, Cheong JH, Kwack K*. Association of the FGA and SLC6A4 Genes with Autistic Spectrum Disorder in a Korean Population Neuropsychobiology 2013 Nov 1;68(4):212-220.

Ahn DH, Rah H, Choi YK, Jeon YJ, Min KT, Kwack K, Hong SP, Hwang SG, Kim NK. Association of the miR-146aC>G, miR-149T>C, miR-196a2T>C, and miR-499A>G polymorphisms with gastric cancer risk and survival in the korean population. Mol Carcinog. 2013 Nov;52 Suppl 1:39-51.

Pyun JA, Kim S, Cha DH, Kwack K*. Epistasis between IGF2R and ADAMTS19 polymorphisms associates with premature ovarian failure. Hum Reprod. 2013 Nov;28(11):3146-54.

Ro MJ, Park JW, Nam M, Bang HJ, Yang JW, Choi KS, Kim SK, Cheong JH, Kwack K*. Associations between single-nucleotide polymorphism in the FNDC3A and autism spectrum disorder in a Korean population. Psychiatry Research 2013 Sep 30;209(2):246-8.

Kim SS, Park KC, Shin C, Cho NH, Ko JJ, Koh IS, Kwack K*. Diplotyper: diplotype-based association analysis. BMC Medical Genomics 2013;6(Suppl 2):S

Kim B, Yoo E, Lee JY, Lee KS, Choe AY, Lee JE, Kwack K, Yook KH, Choi TK, Lee SH. The effects of the catechol-O-methyltransferase val158met polymorphism on white matter connectivity in patients with panic disorder. J Affect Disord. 2013 May;147(1-3):64-71

Park GH, Kim KY, Cheong JY, Cho SW, Kwack K*. Association between Interferon a-inducible protein 6 (IFI6) polymorphisms and hepatitis B virus clearance Genomics & Informatics 2013 Mar;11(1):15-23

Ro MJ, Park JW, Nam M, Bang HJ, Yang JW, Choi KS, Kim SK, Cheong JH, Kwack K*. Association between peroxisomal biogenesis factor 7 (PEX7) and autism spectrum disorders in a Korean population. J Child Neurol 2012 Oct;27(10):1270-5.

Park GH, Kim KY, Cheong JY, Cho SW, Kwack K*. Association of GNLY Genetic Polymorphisms with Chronic Liver Disease in a Korean Population. DNA Cell Biol. 2012 Sep;31(9):1492-8.

Ro MJ, Kim SS, Pyun JA, Shin C, Cho NH, Lee JY, Koh IS, Kwack K*. Association between Arachidonate 5-Lipoxygenase Activating Protein (ALOX5AP) and Lung Function in a Korean Population. Scand J Immunol 2012 Aug;76(2):151-7. accepted 201204012 doi: 10.1111/j.1365-3083.2012.02712.x. PMID:22537113 (ISSN: 0300-9475 IF 2.230)

Pyun JA, Kim SS, Park KC, Baik IK, Cho NH, Koh IS, Lee JY, Cho YS, Kim YJ, Go MJ, Shim E, Kwack, K*, Shin C. Interaction effects of lipoprotein lipase polymorphism with lifestyle on lipid levels in a Korean population: A cross-sectional study Genomics & Informatics 2012 Jun;10(2):88-98

Pyun JA, Kim S, Cha DH, Ko JJ, Kwack K*. Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure. Fertil Steril 2012 Apr;97(4):968-73.

Pyun JA, Cha DH, Kwack K*. LAMC1 gene is associated with premature ovarian failure. Maturitas 2012 April:71(4)402-6.

Park JW, Ro MJ, Nam M, Bang HJ, Yang JW, Choi KS, Kim SK, Cheong JH, Kwack K*. No Association Between Single Nucleotide Polymorphisms in Urocanase Domain Containing 1 (UROC1) and Autism Spectrum Disorders (ASDs) in the Korean Population. J Korean Acad Child Adolesc Psychiatry 2012;23:8-13,

Kim SS, Cheong JY, Lee D, Lee SK, Kim MH, Kwack K, Yang SJ, Lee HY, Cho SW. Interleukin-1ß and interleukin-1 receptor accessory protein gene polymorphisms are associated with persistent Hepatitis B virus infection. Hepato-Gastroenterol. 2012 Jan-Feb;59(113):190-7.

Han WS, Kim KY, Yang SJ, Noh DY, Kang DH, Kwack K*. SNP-SNP interactions between DNA repair genes were associated with breast cancer risk in a Korean population. Cancer 2011 Jul 12.

Kim J, Pyun JA, Cho SW, Lee K, and Kwack K*. Lymph node metastasis of gastric cancer is associated with the interaction between PARP1 and MMP2. DNA Cell Biol. 2011 May 25.

Kim S, Pyun JA, Cha DH, Ko JJ, Kwack K*. Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure. Fertil Steril. 2011 Jan 24.

Pyun JA, Kang HJ Kim JH, Cha DH, Kwack K* The thyroglobulin gene is associated with premature ovarian failure. Fertil Steril. 2011 Jan;95(1):397-400

Kim S, Pyun JA, Kang HJ Kim J, Cha DH, Kwack K* Epistasis between CYP19A1 and ESR1 polymorphisms is associated with premature ovarian failure. Fertil Steril. 2011 Jan;95(1):353-6

Jeon HJ, Choi JH, Jung IH, Park JG, Lee MR, Lee MN, Kim B, Yoo JY, Jeong SJ, Kim DY, Park JE, Park HY, Kwack K, Choi BK, Kwon BS, Oh GT. CD137 (4-1BB) Deficiency Reduces Atherosclerosis in Hyperlipidemic Mice. Circulation. 2010 Feb 22. 121(9):1124-1133

Ahn HJ, Lee WJ, Kwack K, Kwon YD. FGF2 stimulates the proliferation of human mesenchymal stem cells through the transient activation of JNK signaling. FEBS Lett. 2009 Sep 3;583(17):2922-6.