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Division of Molecular Pathology


Email cgocke1@jhmi.edu
Phone (410) 955-8363

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Molecular Pathology


Christopher D. Gocke, M.D.

Associate Professor of Pathology; Director of Molecular Pathology Division; Director of Hematology Molecular Diagnostics; Associate Director of Molecular Diagnostics Lab


Dr. Gocke provides diagnostic services in Molecular Pathology and Hematopathology. Dr. Gocke's lab develops new approaches to genetic analysis. Current projects include a universal method for translocation detection and a long-range haplotyping assay. Dr. Gocke is also exploring high-throughput identification of alternative splicing of mRNA.

Publications
http://www.ncbi.nlm.nih.gov/pubmed/?term=Gocke+CD




Email dbatist1@jhmi.edu
Phone (410) 955-8363

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Molecular Pathology

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Denise Batista, Ph.D.

Associate Professor of Pathology; Secondary Appointment in Institute of Genetic Medicine


Cytogenetic analysis is an important tool to diagnose individuals with developmental delay with or without dysmorphic features. My clinical research focuses on cytogenetics, including classical techniques, SNP array and fluorescence in situ hybridization, to identify new microdeletion and microduplication syndromes. Once detected in several individuals we can delineate the phenotypic spectrum associated with the chromosome abnormality. The use of microarray allows a correlation at the molecular level where candidate genes associated with the phenotype can be recognized. The direct application of this research is increased number of clinical diagnosis achieved and availability of better prognostic information to individuals and families carrying these genetic syndromes.

Publications
http://www.ncbi.nlm.nih.gov/pubmed/?term=Batista+D%2C+Hopkins



Email jeshlem@jhmi.edu
Phone (410) 955-3511

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Molecular Pathology

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James R. Eshleman, M.D., Ph.D.

Professor of Pathology; Secondary Appointment in Oncology; Associate Director of Molecular Diagnostics Lab


Dr. Eshleman has been Associate Director of the Molecular Diagnostics Lab since 1997. In addition to signing out clinical assays, he has actively participated in test development. Drs. Lee and Eshleman reported a method to quantify T-cell clonality (1), and Dr. Dwight Oliver and he were the first to report that SNPs could be used for bone marrow engraftment analysis (2). He and Dr. Berg reported a case of accidental transmission of a T-cell lymphoma during bone marrow transplantation (3). Dr. Chanjuan Shi and he invented a strategy for ultrasensitive detection of point mutations (4). Dr. Kathy Murphy and he invented a method to simultaneously PCR amplify and Sanger sequence DNA (5). Finally, Drs. Guoli Chen, Mathew Olson and Eshleman wrote software to help analyze complex pyrosequencing results. He has been active in validating next-generation sequencing (NGS) for the clinical lab, in collaboration with Drs. Ming-Tseh Lin and Chris Gocke. Dr. Eshleman also runs a research laboratory, focused on pancreatic cancer. He has been active in the areas of drug discovery and familial predisposition gene discovery. In 2008, Drs. Vogelstein and Eshleman, in addition to many other collaborators, published whole exome sequencing of 24 pancreatic cancers to identify core pathways affected in pancreatic adenocarcinoma. He also helped to discover Palb2 and ATM as familial pancreatic predisposition genes.

1. Lee SC, Berg KD, Racke FK, Griffin CA, and Eshleman JR. Pseudo-spikes are common in histologically benign lymphoid tissues. J Molec Diagnostics. 2000; 2:145-52.

2. Oliver DH, Thompson RE, Griffin CA, and Eshleman JR. Use of single nucleotide polymorphisms (SNP) and real-time polymerase chain reaction for bone marrow engraftment analysis. J Molec Diagnostics. 2000; 2:202-8.

3. Berg KD, Brinster NK, Huhn KM, Goggins MG, Jones RJ, Makary A, Griffin CA, Rosenblum-Vos LS, Borowitz MJ, Nousari HC, and Eshleman JR. Transmission of a T-cell lymphoma by allogeneic bone marrow transplantation. New Engl J Medicine. 2001; 345:1458-63.

4. Shi C, Eshleman SH, Jones D, Fukushima N, Hua L, Parker AR, Yeo CJ, Hruban RH, Goggins MG, and Eshleman JR. LigAmp for sensitive detection of single nucleotide-differences. Nature Methods. 2004; 1:141-7.

5. Murphy KM, Berg KD, and Eshleman JR. Sequencing of genomic DNA by combined amplification and cycle sequencing. Clin Chem. 2005; 51:35-9.

6. Chen G, Olson MT, O’Neill AO, Norris A, Beierl K, Harada S, Debeljak M, Rivera-Roman K, Finley S, Stafford A, Gocke CD, Lin MT, Eshleman JR. A Virtual Pyrogram Generator to Resolve Complex Pyrosequencing Results. J. Mol. Diagn., 2012; 14: 149-159.

Publications

http://www.ncbi.nlm.nih.gov/pubmed/?term=Eshleman+J%2C+Hopkins



Email egabriel@jhmi.edu
Phone (410) 502-5250
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Edward W. Gabrielson, M.D.

Primary Appointment in Pathology; Secondary Appointment in Oncology
Member, Graduate Program in Environmental Health Sciences (BSPH)


The general goal of my research is to improve our understanding of the biology of cancer, particularly breast cancer and lung cancer. Our laboratory uses a variety of experimental approaches to study cancers, including gene expression arrays, mutational and chromosomal structural analysis, measurements of DNA methylation, and function assay of tumor cell growth. By characterizing genetic, epigenetic, and gene expression characteristics of cancers, we expect to be able to improve our ability to predict the clinical behavior, including prognosis and response to treatment, of specific tumors.

Publications
Gabrielson, E. Worldwide trends in lung cancer pathology. Respirology, 11: 533-538, 2006.

Garrett-Mayer, E., Parmigiani, G., Zhong, X., Cope, L., and Gabrielson, E. Cross-study validation and combined analysis of gene expression microarray data. Biostatistics, 2007.

Lee, J. S., Orita, H., Gabrielson, K., Alvey, S., Hagemann, R. L., Kuhajda, F. P., Gabrielson, E., and Pomper, M. G. FDG-PET for pharmacodynamic assessment of the fatty acid synthase inhibitor C75 in an experimental model of lung cancer. Pharm Res, 24: 1202-1207, 2007.

Orita, H., Coulter, J., Lemmon, C., Tully, E., Vadlamudi, A., Medghalchi, S. M., Kuhajda, F. P., and Gabrielson, E. Selective inhibition of fatty acid synthase for lung cancer treatment. Clin Cancer Res, 13: 7139-7145, 2007.

Woo, J. H., Li, D., Wilsbach, K., Orita, H., Coulter, J., Tully, E., Kwon, T. K., Xu, S., and Gabrielson, E. Coix Seed Extract, a Commonly Used Treatment for Cancer in China, Inhibits NFkappaB and Protein Kinase C Signaling. Cancer Biol Ther, 6, 2007.




Email mlin36@jhmi.edu
Phone (410) 955-8363

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Molecular Pathology

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Ming-Tseh Lin, M.D., Ph.D.

Director of Molecular Diagnostics Lab
Primary Appointment in Pathology


My previous experience provides a unique perspective in Molecular Diagnostics, as I initially practiced as a hematologist and bone marrow transplant specialist. I am currently appointed as the Director of the Molecular Diagnostics Laboratory. My personal expertise is in the development and validation of new assays, including the clinical application of next generation sequencing (NGS) platform. We have validated the NGS platform for mutation detection of formalin-fixed paraffin-embedded neoplastic tissues in our CLIA-certified Molecular Diagnostics Laboratory. My research focuses on the association of single nucleotide polymorphisms with outcomes of hematopoietic cell transplantation in the past, and currently on the identification of cancer biomarkers. I also work on the design of novel tandem duplication PCR assays for the detection of minimal residual disease of FLT/ITD AML and the exploration of mechanisms for internal tandem duplication of the human genome.

Publications
http://www.ncbi.nlm.nih.gov/pubmed/?term=Ming-Tseh+Lin



Email yning5@jhmi.edu
Phone (410) 955-8363

Related Websites
Molecular Pathology

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Yi Ning, M.D, Ph.D.

Associate Professor of Pathology; Director of Cytogenetics Lab


I am an American Board of Medical Genetics certified Clinical Cytogeneticist, with clinical and research training in Baylor College of Medicine, Houston TX, and National Human Genome Research Institute, Bethesda MD. My interests are in the field of cell growth regulation and cytogenetic diagnosis. Our Cancer Cytogenetics Laboratory provides karyotype analysis, fluorescence in-situ hybridization (FISH) analysis, SNP-microarray analysis, and other clinical research services. My research has focused on the detection and characterization of subtle chromosome abnormalities in hematological malignancies.

Publications
http://scholar.google.com/citations?user=DnIEpbMAAAAJ


 


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