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个人简介

B.Sc. (Hons.), University of Toronto Ph.D., University of British Columbia Postdoctorate Fellowship, UC Santa Cruz Clinical Molecular Genetics Fellowship, UC San Francisco

研究领域

Genomic medicine for pediatric cancers and constitutional genetic disorders Although individual genetic disorders are rare, as an aggregate, they affect up to 10% of the population. My lab is dedicated to improving the diagnosis and treatment of children affected by rare genetic diseases. We accomplish this through genomic analysis and the development of novel molecular diagnostic tests. Cancer is the most common genetic disorder and affects 1 in 300 children. Cancers are thought to occur as a result of DNA changes that are either inherited or acquired throughout an individual’s lifetime. Advances in sequencing technologies, genome science and bioinformatics finally provide us with the tools to identify these changes and develop precision therapies to attack cancer cells while sparing their normal counterparts. While cancer genomics has entered clinical practice for both pediatric and adult cancer patients, current methods of clinical genomic data analysis are largely limited to the detection of coding mutations, and do not work well for most pediatric cancer patients. To address this, we launched the Treehouse Childhood Cancer Initiative (https://treehousegenomics.ucsc.edu), focusing on the study of tumor RNA as readout of both genetic and epigenetic changes that can drive pediatric tumors. The goal of Treehouse is to increase the number of pediatric cancer patients that benefit from the genomic characterization of their tumor. We would like to extend our approaches to the study of constitutional genetic diseases, such as structural birth defects. We will use molecular biology, genomic and bioinformatics techniques to understand the etiology of these diseases and identify novel molecular targets for treatment.

近期论文

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A Distinct DNA Methylation Shift in a Subset of Glioma CpG Island Methylator Phenotypes during Tumor Recurrence. de Souza CF, Sabedot TS, Malta TM, Stetson L, Morozova O, Sokolov A, Laird PW, Wiznerowicz M, Iavarone A, Snyder J, deCarvalho A, Sanborn Z, McDonald KL, Friedman WA, Tirapelli D, Poisson L, Mikkelsen T, Carlotti CG Jr, Kalkanis S, Zenklusen J, Salama SR, Barnholtz-Sloan JS, Noushmehr H. Cell Rep. 2018 Apr 10;23(2):637-651. doi: 10.1016/j.celrep.2018.03.107. TumorMap: Exploring the Molecular Similarities of Cancer Samples in an Interactive Portal. Newton Y, Novak AM, Swatloski T, McColl DC, Chopra S, Graim K, Weinstein AS, Baertsch R, Salama SR, Ellrott K, Chopra M, Goldstein TC, Haussler D, Morozova O, Stuart JM. Cancer Res. 2017 Nov 1;77(21):e111-e114. doi: 10.1158/0008-5472.CAN-17-0580. Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma. Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson AR, Lichtenberg TM, Murray BA, Ghayee HK, Else T, Ling S, Jefferys SR, de Cubas AA, Wenz B, Korpershoek E, Amelio AL, Makowski L, Rathmell WK, Gimenez-Roqueplo AP, Giordano TJ, Asa SL, Tischler AS; Cancer Genome Atlas Research Network, Pacak K, Nathanson KL, Wilkerson MD. Cancer Cell. 2017 Feb 13;31(2):181-193. doi: 10.1016/j.ccell.2017.01.001. Epub 2017 Feb 2. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma. Zheng S, Cherniack AD, Dewal N, Moffitt RA, Danilova L, Murray BA, Lerario AM, Else T, Knijnenburg TA, Ciriello G, Kim S, Assie G, Morozova O, Akbani R, Shih J, Hoadley KA, Choueiri TK, Waldmann J, Mete O, Robertson AG, Wu HT, Raphael BJ, Shao L, Meyerson M, Demeure MJ, Beuschlein F, Gill AJ, Sidhu SB, Almeida MQ, Fragoso MCBV, Cope LM, Kebebew E, Habra MA, Whitsett TG, Bussey KJ, Rainey WE, Asa SL, Bertherat J, Fassnacht M, Wheeler DA; Cancer Genome Atlas Research Network, Hammer GD, Giordano TJ, Verhaak RGW. Cancer Cell. 2016 Aug 8;30(2):363. doi: 10.1016/j.ccell.2016.07.013. Epub 2016 Aug 8. No abstract available. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma. Zheng S, Cherniack AD, Dewal N, Moffitt RA, Danilova L, Murray BA, Lerario AM, Else T, Knijnenburg TA, Ciriello G, Kim S, Assie G, Morozova O, Akbani R, Shih J, Hoadley KA, Choueiri TK, Waldmann J, Mete O, Robertson AG, Wu HT, Raphael BJ, Shao L, Meyerson M, Demeure MJ, Beuschlein F, Gill AJ, Sidhu SB, Almeida MQ, Fragoso MCBV, Cope LM, Kebebew E, Habra MA, Whitsett TG, Bussey KJ, Rainey WE, Asa SL, Bertherat J, Fassnacht M, Wheeler DA; Cancer Genome Atlas Research Network, Hammer GD, Giordano TJ, Verhaak RGW. Cancer Cell. 2016 May 9;29(5):723-736. doi: 10.1016/j.ccell.2016.04.002. Erratum in: Cancer Cell. 2016 Aug 8;30(2):363. Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma. Ceccarelli M, Barthel FP, Malta TM, Sabedot TS, Salama SR, Murray BA, Morozova O, Newton Y, Radenbaugh A, Pagnotta SM, Anjum S, Wang J, Manyam G, Zoppoli P, Ling S, Rao AA, Grifford M, Cherniack AD, Zhang H, Poisson L, Carlotti CG Jr, Tirapelli DP, Rao A, Mikkelsen T, Lau CC, Yung WK, Rabadan R, Huse J, Brat DJ, Lehman NL, Barnholtz-Sloan JS, Zheng S, Hess K, Rao G, Meyerson M, Beroukhim R, Cooper L, Akbani R, Wrensch M, Haussler D, Aldape KD, Laird PW, Gutmann DH; TCGA Research Network, Noushmehr H, Iavarone A, Verhaak RG. Cell. 2016 Jan 28;164(3):550-63. doi: 10.1016/j.cell.2015.12.028.

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