| Email |
dbatist1@jhmi.edu |
| Phone |
(410) 955-8363 |
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Denise Batista, Ph.D.
Primary Appointment in Pathology
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
Batista DAS, Hawkins A, Murphy KM, Griffin CA. BCR/ABL rearrangement in two cases of Philadelphia chromosome negative chronic myeloid leukemia: deletion on the derivative chromosome 9 may or not be present. Cancer Genet Cytogenet 2005; 163: 164-167.
Batista DAS, Vonderheid EC, Hawkins A, Morsberger L, Long P, Murphy KM, Griffin CA. Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome Genes Chromosomes Cancer 2006; 45: 383-391.
Taube JM, Griffin CA, Yonescu R,Morsberger L, Argani P,Askin FB, Batista DAS. Pleuropulmonary blastoma: Cytogenetic and spectral karyotype analysis. Pediatr Dev Pathol 2006; 9(6): 453-461.
Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DA. 3q29 Interstitial Microduplication: A New Syndrome in a Three-Generation Family. Am J Med Genet A. 2008 Mar 1;146A(5):601-9.
Georgy M, Yonescu R, Griffin CA, Batista DAS. Acute mixed lineage leukemia and a translocation 6;14 in two adults. Cancer Genet Cytogenet 2008; 185(1): 28-31
Li F, Lisi EC, Wohler ES, Hamosh A, Batista DAS. 3q29 Interstitial Microdeletion Syndrome: an inherited case associated with cardiac defect and normal cognition. Eur J Med Genet 2009;52(5):349-352 |
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| Email |
dcoffey@jhmi.edu |
| Phone |
(410) 955-2517 |
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Donald S. Coffey, Ph.D.
Primary Appointment in Urology; Secondary Appointments in Pathology, Oncology, Pharmacology and Molecular Sciences
Member, Graduate Program in Reproductive Biology (BSPH); Member, Graduate Program in Pharmacology and Molecular Sciences
The hallmark of cancer diagnosis is the variation in cell and nuclear structure. Dr. Coffey's laboratory is investigating the biochemical and cellular biology that produces these effects. His work is focused on the nuclear architecture that identifies the nuclear matrix and its role in the higher order organization of chromtain and in chromosomal structure. He has investigated DNA replication, transcription and telomere stability in relation to cancer and aging.
Dr. Coffey is a leading authority on benign prostatic hyperplasia and prostatic adenocarcinoma and has studied animal models, endocrine regulation and stem cell dynamics. For several decades he has studied the pathobiology of the abnormal growth of the prostate and tumor biology.
Publications
Partin AW, Briggman JV, Subong ENP, Szaro R, Oreper A, Wiesbrock S, Meyer J,Coffey DS, Epstein JI. Preliminary immunohistochemical characterization of amonoclonal antibody (PRO:4-216) prepared from human prostate cancer nuclearmatrix proteins. Urology 50:800-808, 1997.
Meeker AK, Coffey DS. Telomerase: A promising marker of biological immortality of germ, stem and cancer cells. Biochemistry (Moscow)62:1323-1331, 1997.
Coffey DS. Self-organization, complexity and chaos: The new biology for medicine. Nature Med 4:882-885, 1998.
De Marzo A, Meeker AK, Epstein JI, Coffey DS. Prostate stem cellcompartments: Expression of p27Kip 1 in normal, hyperplastic and neoplastic cells. Am J Path 153:911-917, 1998. |
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| Email |
scraig@jhmi.edu |
| Phone |
(410) 955-7873 |
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Susan W. Craig, Ph.D.
Primary Appointment in Biological Chemistry; Secondary Appointment in Pathology
Member, Graduate Program in Biochemistry, Cellular and Molecular Biology; Member, Graduate Program in Biological Chemistry
Cytoskeletal proteins and cell adhesion. Cell: cell and cell-extracellular matrix junctions are transmembrane connections to the actin cytoskeleton that are responsible for development and maintenance of tissue integrity; and for sending, receiving, and integrating the signals to coordinate cell division, motility, and differential cell adhesion. When cells adhere and spread on extracellular matrix (ECM), a portion of the cytoplasmic vinculin is recruited to specialized sites on the plasma membrane, called focal adhesions and focal contacts. At these sites dynamic connections are made between the actin cytoskeleton and ECM through transmembrane integrin and syndecan receptors for extracellular matrix molecules. These connections relay force across the membrane and are essential for regulation of cell motility. To examine how transmembrane connections between cytoskeleton and extracellular matrix are made and regulated, we are studying the requirements for assembly and function of the adhesion plaque protein, vinculin. We discovered that an intramolecular interaction in vinculin masks binding sites for talin, F-actin, and acidic phospholipids. The presence of these cryptic sites suggests that assembly of vinculin into a cell adhesion site requires 'activation' of cytoplasmic vinculin to disrupt an intramolecular interaction that maintains vinculin in an adhesion-incompetent state. To test this idea, we developed fluoresence resonance energy transfer probes that report on the activation state of vinculin. These probes have allowed us to spatially resolve the location of activated vinculin in living cells and have led to the discovery that adhesion sites vary in the amount of activated vinculin they contain. Currently, we are testing whehter the proportion of activated vinculin reflects the tension exerted by an adhesion site. Recent structural studies, done in collaboration with Robert Liddingtons lab, have revealed the structural basis for autoinhibition of vinculin and suggested hypotheses for activation mechanisms. These hypotheses are being tested using approaches based on the vinculin FRET probe, structure-based site directed mutagenesis, and fluoresence recovery after photobleaching.
Publications
Steimle, P.A., J.D. Hoffert, Nils B. Adey, and Susan W. Craig. 1999. Polyphosphoinositides inhibit the interaction of vinculin with actin filaments. J. Biol. Chem. 274:18414-18420.
Johnson, R.P. and S. W. Craig. 2000. Actin activates a cryptic dimerization potential of the vinculin tail domain. J. Biol. Chem. 275:95-105.
Kuncl RW, Bilak MM, Craig SW, Adams R. 2003. Exocytotic "constipation" is a mechanism of tubulin/lysosomal interaction in colchicine myopathy. Exp Cell Res. 285(2):196-207.
Craig, S.W. and H. Chen. 2003. Lamellipodia Protrusion: Moving Interactions with Vinculin and Arp2/3. Curr. Biol. 13(6):R236-8.
Bakolitsa C, Cohen DM, Bankston LA, Bobkov AA, Cadwell GW, Jennings L, Critchley DR, Craig, SW and Liddington RC. 2004.
Structural basis for vinculin activation at sites of cell adhesion. Nature. 430:583-6. Epub 2004 Jun 13. |
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| Email |
cdescip1@jhmi.edu |
| Phone |
(410) 955-8363 |
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Cheryl DeScipio, Ph.D.
Primary Appointment in Pathology; Secondary Appointment in Gynecology and Obstetrics
My research interests lie in the delineation of cryptic chromosomal rearrangements and how they relate to human structural birth defects. Specifically, this work has focused on 6p subtelomere delineation syndrome, recently recognized as a clinically identifiable syndrome consisting of developmental delay/mental retardation, language impairment, hearing loss, and ophthalmologic, cardiac, and craniofacial abnormalities. To address genotype/phenotype correlation, work has focused on mapping deletion boundaries in patients, assessing a minimal commonly-deleted region and investigating candidate genes in this region. I am also interested in the use of DNA analysis for subclassification of hydatidiform moles to guide appropriate clinical management and assessment of risk of persistent gestational trophoblastic disease.
Publications
DeScipio C, Morrissette J, Conlin L, Clark D, Kaur M, , Riethman H, Spinner NB, Krantz ID. Two Siblings with Alternate Unbalanced Recombinants Derived from a Large Cryptic Maternal Pericentric Inversion of Chromosome 20. Am J Med Genet A. (In Press)
DeScipio C, Spinner NB, Kaur M, Yaeger D, Hu S, Shan S, Krantz ID, Riethman H. Fine-Mapping Subtelomeric Deletions and Duplication by Comparative Genomic Hybridization in 42 Individuals Using a Newly Developed Telomere Array. 2008. Am J Med Genet A. Feb 6;146A(6):730-739.
DeScipio C. The 6p subtelomere deletion syndrome. 2007. Am J Med Genet C Semin Med Genet. Nov 15;145(4):377-82.
DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs with Features of CdLS and Review of Reported CdLS Cases with Chromosome Rearrangements. 2005. Am J Med Genet 137A:276-82.
DeScipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel A A.G.L., Agnes Guichet, Toutain A, Spinner NB, Krantz ID. Subtelomeric Deletions of Chromosome 6p: Molecular and Cytogenetic Characterization of Three New Cases with Phenotypic Overlap with Ritscher-Schinzel (3C) Syndrome. 2005. Am J Med Genet 134A:3-11. |
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| 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. |
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| Email |
cgocke1@jhmi.edu |
| Phone |
(410) 955-8363 |
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Christopher D. Gocke, M.D.
Primary Appointment in Pathology; Director of Hematology Molecular Diagnostics; Program Director of Molecular Genetic Pathology Fellowship
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
Jobbagy Z, van Atta R, Murphy KM, Eshleman JR, Gocke CD. Evaluation of the Cepheid GeneXpert BCR-ABL assay. Journal of Molecular Diagnostics 9:220-7 (2007).
Winn-Deen ES, Helton B, Van Atta R, Wong W, Peralta J, Wang J, Tsongalis GJ, Belloni D, Chan D, Eshleman JR, Gocke CD, Jobbagy Z, Beppu L, Radich JP. Development of an integrated assay for detection of BCR-ABL RNA. Clinical Chemistry 53:1593-600 (2007).
Jones RJ, Gocke CD, Kasamon YL, Miller CB, Perkins B, Barber JP, Vala MS, Gerber JM, Gellert LL, Siedner M, Lemas MV, Brennan S, Ambinder RF, Matsui W. Circulating clonotypic B cells in classical Hodgkin's lymphoma. Blood 113:5920-6 (2009).
Hristov AC, Saladino A, Nava VE, Gocke CD. Auer Rod-Like Inclusions in a Low Grade B-cell Leukemia: A Case Report and Literature. Annals of Diagnostic Pathology (in press).
Song P, Gocke C, Wigley FM, Boin F. Resolution of Pansclerotic Morphea after Treatment with Antithymocyte Globulin. Nature Reviews Rheumatology 5: 513-6 (2009). |
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| Email |
fkuhajda@jhmi.edu |
| Phone |
(410) 550-5587 |
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Francis P. Kuhajda, M.D.
Primary Appointment in Pathology; Secondary Appointment in Oncology; Joint Appointment in Biological Chemistry
Member, Graduate Program in Pathobiology
Cancer and obesity are the key areas of my research based on the manipulation of lipid metabolism using small molecule enzyme inhibitors and agonists. Human cancers and their precursor lesions express high levels of endogenous fatty acid synthesis. Inhibition of fatty acid synthase (FAS) the key anabolic enzyme involved in de novo fatty acid synthesis, leads to apoptosis of human cancer cells both in vitro and in vivo. My laboratory is exploring basic mechanisms linking cancer cell apoptosis with inhibition of fatty acid synthesis. We are also involved in translational research developing new inhibitors of FAS for future clinical use. FAS is also found circulating in the blood of cancer patients. Delineating the forms of the circulating antigen and understanding its role in cancer diagnosis is another ongoing project.
Another feature of altering fatty acid metabolism in mammals is profound weight loss. We are unraveling pathways linking FAS inhibition to both central appetite mechanisms and peripheral energy metabolism using animal models of obesity such as diet-induced and genetically obese mice. These studies are leading to promising breakthroughs for future obesity and diabetes treatment.
Importantly, we work as part of the multidisciplinary FAS working group whose members include, Drs. Craig Townsend and Jill McFadden of the Department of Chemistry; Drs. Jagan N. Thupari, James D. Dick, Edward Gabrielson, Nicole Parrish, and Daniel Chan of the Department of Pathology; Dr. Elizabeth Jaffee of the Department of Oncology; Dr. Gabriele V. Ronnett of the Department of Neuroscience; Drs. Tim Moran and Susan Aja of the Department of Psychiatry.
Publications
Kuhajda FP, Pizer ES, Li JN, Mani NS, Freywot GL, Townsend CA. Synthesis and antitumor activity of an inhibitor of fatty acid synthase. PNAS 97:3450-3454, 2000.
Loftus TM, Jaworsky, D.E., Frehywot, G.L., Townsend CA, Ronnett GV, LaneMD, Kuhajda FP. Reduced food intake and body weight in mice treated with fatty acid synthase inhibitors. Science 288: 2379-2381, 2000.
Zhou W, Simpson PJ, McFadden JM, Townsend CA, Medghalchi SM, Vadlamudi A, Pinn ML, Ronnett GV, Kuhajda FP. Fatty acid synthase inhibition triggers apoptosis during S phase in human cancer cells. Cancer Research 63: 7330-7337, 2003.
Thupari JN, Kim EK, Moran TH, Ronnett GV, Kuhajda FP. Chronic C75 treatment of diet-induced obese mice increases fat oxidation and reduces food intake to selectively reduce adipose mass. Am J Physiol Endocrinol Metab 287: E97-E104, 2004.
Alli PM, Pinn ML, Jaffee EM, McFadden JM, Kuhajda FP. Fatty acid synthase inhibitors are chemopreventive for mammary cancer in neu-N transgenic mice. Oncogene Oct 18, 2004. |
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Kathleen M. Murphy, Ph.D.
Director, Johns Hopkins Molecular Diagnostics Lab
Primary Appointment in Pathology
Dr. Murphy's primary goals are to identify, validate, and implement molecular markers into clinical practice for the management of cancer patients. These molecular markers include germline and somatic variants that have the potential to impact clinical care by identifying individuals at risk for cancer and for diagnostic and prognostic purposes. Dr. Murphy is particularly interested in identifying variants that predict response to novel cancer chemotherapies. As an example, Dr. Murphy developed a novel molecular assay to detect mutations in the FLT3 gene, which is used in clinical trials investigating the efficacy of FLT3 inhibitors. Dr. Murphy's work has also investigated the effects of both polymorphic differences and copy number differences of the thymidylate synthase (TS) gene in response to 5-fluorouracil (5FU)-based therapy. Finally, Dr. Murphy is very interested in developing novel molecular technologies. She has developed a novel method to combine PCR amplification and sequencing into a single reaction, which allows rapid DNA sequencing with less expense.
Publications
Murphy KM, Levis M, Hafez MJ, Geiger T, Cooper LC, Smith BD, Small D, Berg KD. Detection of FLT3 internal tandem duplication and D835 mutations by a multiplex polymerase chain reaction and capillary electrophoresis assay. J Mol Diagn. 2003; 5:96-102.
Smith BD, Levis M, Beran M, Giles F, Kantarjian H, Berg K, Murphy KM, Dauses T, Allebach J, Small D. Single-agent CEP-701, a novel FLT3 inhibitor, shows biologic and clinical activity in patients with relapsed or refractory acute myeloid leukemia. Blood. 2004; 103:3669-76.
Murphy KM, Berg KD, Eshleman JR. Sequencing of genomic DNA by combined amplification and cycle sequencing reaction. Clin Chem. 2005; 51:35-9.
Brody JR, Hucl T, Gallmeier E, Winter JM, Kern SE, Murphy KM. Genomic Copy Number Changes Affecting the Thymidylate Synthase (TYMS) Gene in Cancer: A Model for Patient Classification to Aid Fluoropyrimidine Therapy. Cancer Res. 2006; 66:9369-73.
Griffin CA, Burger P, Morsberger L, Yonescu R, Swierczynski S, Weingart JD, Murphy KM. Identification of der(1;19)(q10;p10) in five oligodendrogliomas suggests mechanism of concurrent 1p and 19q loss. J Neuropathol Exp Neurol. 2006; 65:988-94. |
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| Email |
dsidrans@jhmi.edu |
| Phone |
(410) 502-5153 |
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David Sidransky, M.D.
Primary Appointment in Otolaryngology - Head and Neck Surgery; Secondary Appointments in Oncology, Pathology, Urology
Member, Graduate Program in Cellular and Molecular Medicine
My research focuses on the translation of molecular genetics into the clinical setting.We are committed to understanding the molecular progression of head and neck cancer and other solid neoplasms. Specific genetic alterations are targeted for additional biologic and functional studies. Moreover, the same critical genetic events are rapidly incorporated into novel molecular detection strategies for human cancers. We have successfully detected clonal genetic alterations in bodily fluids and clinical pathologic specimens. These assays form the basis of a novel approach for the early and specific detection of neoplastic cells in clinical samples.
Publications
Mao L, Lee DJ, Tockman MS, Erozan YS, Askin F, Sidransky D. Microsatellite Alterations As Clonal Marker in the Detection of Human Cancer. Proc Natl AcadSci (USA) 91:9871-9875, 1994.
Brennan JA, Mao L, Hruban RH, Boyle JO, Eby YJ, Koch WM, Goodman SN, Sidransky D. Molecular Assessment of Histopathologic Staging in Squamous-Cell Carcinoma of the Head and Neck. New England Journal ofMedicine 332:429-435, 1995.
Merlo A, Herman JG, Mao L, Lee DJ, Schwab D, Burger PC, Baylin SB,Sidranksy D. 5'CpG Island Methylation is Associated with Transcriptional Silencing of the Tumour Suppressor p16/CDKN2/MTS1 in Human Cancers. NatureMedicine 7:686-692, 1995.
Mao L, Schoenberg MP, Scicchitano M, Erozan YS, Merlo A, Schwab D, Sidransky D. Molecular Detection of Primary Bladder Cancer byMicrosatellite Analysis. Science 271:659-662, 1996. |
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Saraswati Sukumar, Ph.D.
Primary Appointment in Oncology; Secondary Appointment Pathology
Member, Graduate Program in Human Genetics & Molecular Biology; Member, Graduate Program in Pathobiology
Our lab is focused on using SAGE to identify molecular alterations in breast cancer, and exploiting these for early detection and therapy. A panel of hypermethylated gene markers was assembled; a method with high sensitivity and specificity called quantitative multiplex methylation specific PCR was developed, and is being evaluated in DNA from breast fluids such as nipple aspiration, ductal lavage, and fine needle aspirate for early detection and risk assessment. Tight-junction proteins, Claudins (CLDN), are also differentially expressed in breast cancer. Overexpressed CLDN-3 and -4 are receptors for the Clostridium perfringens enterotoxin (CPE). CPE lyses breast cancer cell lines in culture and tumor xenografts that express CLDN 3 and 4. Antibodies to these proteins are valuable as imaging agents, while intraductally administered CPE is therapeutic.
Publications
Evron E, Dooley WC, Umbricht CB, Rosenthal D, Sacchi N, Gabrielson E, Soito AB, Hung DT, Ljung B, Davidson NE, Sukumar S. Detection of breast cancer cells in ductal lavage fluid by methylation-specific PCR. Lancet. 2001 Apr 28;357(9265):1335-6.
Kominsky SL, Vali M, Korz D, Gabig TG, Weitzman SA, Argani P, Sukumar S. Clostridium perfringens enterotoxin elicits rapid and specific cytolysis of breast carcinoma cells mediated through tight junction proteins claudin 3 and4. Am J Pathol. 2004 May;164(5):1627-33.
Fackler MJ, McVeigh M, Mehrotra J, Blum MA, Lange J, Lapides A, Garrett E, Argani P, Sukumar S. Quantitative multiplex methylation-specific PCR assay for the detection of promoter hypermethylation in multiple genes in breast cancer. Cancer Res. 2004 Jul 1;64(13):4442-52.
Parker BS, Argani P, Cook BP, Liangfeng H, Chartrand SD, Zhang M, Saha S, Bardelli A, Jiang Y, St Martin TB, Nacht M, Teicher BA, Klinger KW, Sukumar S, Madden SL. Alterations in vascular gene expression in invasive breast carcinoma. Cancer Res. 2004 Nov 1;64(21):7857-66. |
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| Email |
ThomasG@kennedykrieger.org |
| Phone |
(443) 923-2784 |
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George H. Thomas, Ph.D.
Primary Appointment in Pediatrics; Secondary Appointments in Pathology, Medicine, and Epidemiology
Member, Graduate Program in Human Genetics & Molecular Biology
Our laboratory is investigating the incidence and the nature of both single gene and chromosomal abnormalities associated with mental retardation and/or developmental abnormalities. Our interests include, but are not limited to, inborn errors of lysosomal function with specific attention to the genetic mutations associated with these disorders. Currently, we are examining the role, if any, that uniparental disomy plays in abnormal mental capacity and/or developmental abnormalities. Most recently, we have been examining the possibility that a high rate of de novo mutations in males as compared to females might explain some, if not most, X-linked dominant disorders associated with a low incidence of affected males.
Publications
Thomas GH. High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Amer J Human Genetics 58:1364-1368, 1996.
Doheny KF, Rasmussen SA, Rutberg J, Semenza GL, Stamberg J, Schwartz M, Batista DAS, Stetten G, Thomas GH. Segregation of a familial balanced (12;10) insertion resulting in dup (10) (q21.2q22.1) and del (10) (q21.2q22.1) in first cousins. Amer J Medical Genetics 69:188-193, 1997.
Doheny KF, McDermid HE, Harum K, Thomas GH, Raymond GV. Cryptic terminal rearrangement of chromosomal 22Q13.32 detected by FISH in two unrelated patients. J Medical Genetics 34:640-644, 1997.
Goodman BK, Capone GT, Hennessey J, Thomas G. Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 [dup (4) (q31.1q32.3)] with mild phenotypic effect. Amer J Medical Genetics 73:119-124, 1997. |
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| Email |
cumbrich@jhmi.edu |
| Phone |
(410) 614-2662 |
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Christopher B. Umbricht, M.D., Ph.D.
Primary Appointment in Surgery; Secondary Appointments in Oncology, Pathology
We are applying morphological, biochemical, and genetic approaches to the problem of preinvasive cancer and what determines its progression to invasive disease. Our main focus has been on breast cancer and thyroid cancer, and on the role of specific genes, such as telomerase, or the Vitamin D receptor, in the progression to invasive cancer. We are currently using genome-wide cDNA and SNP arrays to identify changes in gene expression and DNA copy number variation during tumor progression, and following up on promising leads by developing DNA methylation markers, real-time RT-PCR assays, and immunohistochemical analysis for individual genes.
Publications
Umbricht CB, Evron E., Marks J., Gabrielson E., Sukumar S. Hypermethylation of 14.3.3 sigma (Stratifin) and tumor progression in preinvasive breast cancer. Oncogene 2001; 20:3348-3353.
Segev D, Clark D, Zeiger MA, Umbricht CB. Molecular markers in thyroid FNA samples. Acta Cytologica 2003; 47:709-722.
Umbricht C, Conrad G, Clark D, Westra W, Smith D, Zahurak M, Saji M, Smallridge C, Goodman, S, Zeiger M. The Role of Human Telomerase Reverse Transcriptase (hTERT) Gene Expression in the Surgical Management of Suspicious Thyroid Neoplasm. Clin Ca Res 2004; 10:5762-5768.
Wang Y, Kowalski J, Tsai HJ, Marik R, Prasad N, Somervell H, Lo PK, Sangenario LE, Dyrskjot L, Orntoft TF, Westra WH, Meeker AK, Eshleman JR, Umbricht CB, Zeiger MA. Differentiating Alternative Splice Variant Patterns of Human Telomerase Reverse Transcriptase in Thyroid Neoplasms. Thyroid 2008; 18:1055-1063.
Umbricht CB. Invasion. Book chapter in: Kuerer H, ed. Kuerer's Breast Surgical Oncology. New York, NY: McGraw-Hill. 2009 (in press). |
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