The concept of cancer as a genomic disease has been clear since 1960, when Peter Nowell, from the University of Pennsylvania, and his graduate student David Hungerford, identified an abnormal chromosome (the Philadelphia chromosome) associated with chronic myelogenous leukemia (CML). Amazingly, the first targeted therapy for cancer, Imatinib, was later developed around the Philadelphia chromosome and its targeted fusion gene product BCR-ABL1 as well.
Targeted therapy can be categorized into small molecules and monoclonal antibodies. Small molecules are chemicals that block the growth of cancer cells, often by mimicking a substrate, which blocks the active site in the molecule. Some examples of small molecules in cancer include imatinib mesylate (Imatinib), commonly used for CML, gastrointestinal stromal tumors, as well as some other tumors and erlotinib and gefitinib, which are targeted against EGFR mutations in lung and pancreatic adenocarcinomas.
There are also monoclonal antibodies that target specific genetic changes in tumor cells. An example of a monoclonal antibody that has altered disease outcome is trastuzumab, which targets ERBB2 (also known as her2/neu) that is expressed in some breast cancers and some lung adenocarcinomas. The promise of trastuzumab as a targeted therapy that can both treat advanced cancer and prevent its development or reoccurrence traces its origins to the pioneering contributions of Dr. Mark Greene, now a University of Pennsylvania faculty member in the Department of Pathology and Laboratory Medicine.
The Center for Personalized Diagnostics at the University of Pennsylvania builds on this legacy of personalized medicine.
Kojo Elenitoba-Johnson, MD
Director, Center for Personalized Diagnostics
Kojo S. J. Elenitoba-Johnson, MD, is the inaugural Peter C. Nowell, MD Professor at the Perelman School of Medicine at University of Pennsylvania. He is also the Founding Director of Penn Medicine's Center for Personalized Diagnostics, as well as Chief of the Division of Molecular and Genomic Pathology. He was Professor of Pathology at the University of Michigan before joining Penn Medicine faculty in 2015.
Dr. Elenitoba-Johnson is an international leader in the field of hematopathology and molecular pathology, as well as mass spectrometry-driven proteomics. Dr. Elenitoba-Johnson earned his MD from the College of Medicine at the University of Lagos, in Nigeria. He underwent residency training in Anatomic and Clinical Pathology at Brown University School of Medicine, and served as chief resident. He completed a fellowship in Hematopathology at the National Cancer Institute, National Institutes of Health. He is certified by the American Board of Pathology in Combined Anatomic and Clinical Pathology, as well as sub-specialty certification in Hematology and Molecular Genetic Pathology.
Dr. Elenitoba-Johnson's research is focused on the pathogenesis of human malignant lymphomas, biomarker discovery by genomic and proteomic profiling, and cancer. Dr. Elenitoba-Johnson's has been recognized for his work with numerous awards, including the American Society of Investigative Pathology Scholarship in 1993; the Outstanding Graduating Resident Award from Brown University in 1995; the Society for Hematopathology Pathologist in Training Award in 1998; the Outstanding Teaching Award in Anatomic Pathology from the University of Utah (1999 and 2003); and the Ramzi Cotran Young Investigator Award from the United States and Canadian Academy of Pathology in 2006. He is an elected member of the American Society for Clinical Investigation (2011), and is the recipient of the Outstanding Investigator Award given by the American Society for Investigative Pathology (2012).
Dr. Elenitoba-Johnson is a member for the Board of Scientific Counselors of the National Cancer Institute of the National Institutes of Health (NIH). He is an Associate Editor for the Journal of Hematopathology. He is a member of numerous professional societies, including the American Society of Hematology, American Society for Investigative Pathology, United States and Canadian Academy of Pathologists, and the Association of Molecular Pathologists (AMP). He served as the Chair of the Hematopathology Division of AMP from 2008-2009. He has authored or co-authored more than 130 peer-reviewed research publications and has contributed more than 40 chapters to professional textbooks in Pathology.
Download Dr. Elenitoba-Johnson's CV (PDF)
Jennifer Morrissette, PhD
Clinical Director, Center for Personalized Diagnostics
Dr. Morrissette is a dual board certified clinical molecular geneticist and clinical cytogeneticist through the American Board of Medical Genetics (ABMG) and the Scientific Director of the Clinical Cancer Cytogenetics Laboratory in the Department of Pathology and Laboratory Medicine of the Perelman School of Medicine at the University of Pennsylvania.
She received her PhD in Molecular Genetics from the State University of New York at Buffalo and completed a Postdoctoral Fellowship in Molecular Genetics at Harvard Medical School and a Fellowship in Clinical Cytogenetics at The Children's Hospital of Philadelphia.
Download Dr. Jennifer Morrissette's CV (PDF)
Robert Babak Faryabi, PhD
CPD Faculty Lead, Bioinformatics
Dr. Robert Babak Faryabi is an Assistant Professor of Pathology and Laboratory Medicine and a member of the Abramson Family Cancer Research Institute. After a postdoctoral training with Dr. Andre Nussenzweig at the NIH Laboratory of Genome Integrity, Dr. Faryabi joined the Perelman School of Medicine at the University of Pennsylvania in June of 2015. The focus of his lab is to explore the genome-wide signatures of replicative stress and the contributions of replication stress-induced genomic lesions to hematological malignancies. To achieve this goal, the lab employs a combined experimental-computational approach, and develop computational methods based on combinations of big data analytics, mathematical modeling and machine learning algorithms to integrate and interrogate high-dimensional experimental data sets.
Download Dr. Robert Babak Faryabi's CV (PDF)
Jason N. Rosenbaum, MD
CPD Faculty Lead, Cancer Genomics
Dr. Jason Rosenbaum is an Assistant Professor at the University of Pennsylvania, Perelman School of Medicine in the Department of Pathology and Laboratory Medicine. He completed his fellowship in Molecular Genetic Pathology at the Washington University School of Medicine in St. Louis, and his residency at the University of Wisconsin Hospital and Clinics in Madison, Wisconsin. He received his medical degree from the Northwestern University Feinberg School of Medicine. Dr. Rosenbaum maintains an active research program, with projects investigating novel immunohistochemical and molecular markers for neuroendocrine carcinoma. He also works on projects involving next-generation sequencing (NGS), including a whole-exome sequencing project examining angiosarcoma.
Download Dr. Jason N. Rosenbaum's CV (PDF)
Jacquelyn J. Roth, PhD
Precision and Computational Diagnostics Faculty
Dr. Roth is an Assistant Professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania. She is dual board certified in Clinical Cytogenetics and Clinical Molecular Genetics by the American Board of Medical Genetics and Genomics (ABMGG). Dr. Roth received her PhD in Genetics from Thomas Jefferson University. She then completed her two ABMGG fellowships at the Children's Hospital of Philadelphia. In 2014, she joined the Molecular Pathology Laboratory in the Division of Precision and Computational Diagnostics at the Hospital of the University of Pennsylvania, where she served as the Molecular Development Assistant Director for three years before transitioning into her current role. Dr. Roth's interests include harmonizing the use of cytogenetic and molecular techniques to improve patient diagnostics and laboratory quality control.
Salvatore Priore, MD, PhD
Assistant Professor of Clinical Pathology and Laboratory Medicine
Dr. Salvatore Priore is an Assistant Professor of Clinical Pathology and Laboratory Medicine at the University of Pennsylvania, Perelman School of Medicine. He completed his residency in Anatomic Pathology and fellowship in Molecular Genetic Pathology at the University of Pennsylvania. He received his MD and PhD degrees from the University of Rochester as a member of the Medical Scientist Training Program. He completed a post-doctoral fellowship in the laboratory of Yi Xing in the Center for Computational and Genomic Medicine at the Children’s Hospital of Philadelphia. Dr. Priore maintains a significant interest in investigating and developing RNA-based molecular diagnostic testing. In addition, he is actively involved in teaching and developing novel educational content in the areas of molecular pathology and medical humanities.
Dr. Priore is a diplomate of the American Board of Pathology.
CPD Staff Members
- Joe Milano, Administrative Director
- David Lieberman, Technical Manager
- Robyn Sussman, PhD, Molecular Development Assistant Director
- Safoora Deihimi, Genomic Variant Analyst
- Chris Orr, PhD, Genomic Variant Analyst
- Ashkan Bigdeli, Bioinformatics Specialist
- Amanda Oran, PhD, Genomic Development Specialist
- Patrick Candrea, Technical Supervisor
- Natalie Opsitnick, Clinical Genomics Technologist
- Amanda Liebert, Clinical Genomics Technologist
- Donna Didario, Clinical Genomics Technologist
- Akshay Chitturi, Bioinformatics Specialist
- Chris Herzog, PhD, Genomic Variant Analyst
- Samantha DiPompeo, Administrative Assistant
- Chase Rushton, Bioinformatics Specialist
- Monika Carey, Clinical Genomics Technologist
- Alison DeBlass, Clinical Genomics Technologist
- Stefanie Shawver, Laboratory Assistant
- Corey Rogers, PhD, Genomic Development Specialist
- Sanese White-Brown, Genomic Variant Analyst
- Jason Limbo, Clinical Genomics Technologist
For the Center of Personalized Diagnostics and test inquiries, call 215-615-3966 or contact:
- Jennifer Morrissette, PhD
Center for Personalized Diagnostics
Hospital of the University of Pennsylvania
3020 Market Street, Suite 221C
Philadelphia, PA 19104
- David B. Lieberman, MS, CGC
Center for Personalized Diagnostics
Hospital of the University of Pennsylvania
3020 Market Street, Suite 220
Philadelphia, PA 19104
CPD Resources and Selected Publications
- O'Rourke DM, Nasrallah MP, Desai A, Melenhorst JJ, Mansfield K, Morrissette JJD, Martinez-Lage M, Brem S, Maloney E, Shen A, Isaacs R, Mohan S, Plesa G, Lacey SF, Navenot JM, Zheng Z, Levine BL, Okada H, June CH, Brogdon JL, Maus MV. A single dose of peripherally infused EGFRvIII-directed CAR T cells mediates antigen loss and induces adaptive resistance in patients with recurrent glioblastoma. Sci Transl Med. 2017 Jul 19;9(399). pii: eaaa0984. doi: 10.1126/scitranslmed.aaa0984
- Fox AJ, Hiemenz MC, Lieberman DB, Sukhadia S, Li B, Grubb J, Candrea P, Ganapathy K, Zhao J, Roth D, Alley E, Loren A, Morrissette JJ. Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors. J Vis Exp. 2016 Sep 20;(115). doi: 10.3791/52758.
- Wei S, Lieberman D, Morrissette JJ, Baloch ZW, Roth DB, McGrath C. Using "residual" FNA rinse and body fluid specimens for next-generation sequencing: An institutional experience. Cancer Cytopathol. 2016 May;124(5):324-9. doi: 10.1002/cncy.21666. Epub 2015 Dec 18.
- Hiemenz MC, Kadauke S, Lieberman DB, Roth DB, Zhao J, Watt CD, Daber RD, Morrissette JJ. Building a Robust Tumor Profiling Program: Synergy between Next-Generation Sequencing and Targeted Single-Gene Testing. PLoS One. 2016 Apr 4;11(4):e0152851. doi: 10.1371/journal.pone.0152851.
- Yee SS, Lieberman DB, Blanchard T, Rader J, Zhao J, Troxel AB, DeSloover D, Fox AJ, Daber RD, Kakrecha B, Sukhadia S, Belka GK, DeMichele AM, Chodosh LA, Morrissette JJ, Carpenter EL. A novel approach for next-generation sequencing of circulating tumor cells. Mol Genet Genomic Med. 2016 Feb 28;4(4):395-406. doi: 10.1002/mgg3.210. eCollection 2016.
- Wei S, LiVolsi VA, Montone KT, Morrissette JJ, Baloch ZW. PTEN and TP53 Mutations in Oncocytic Follicular Carcinoma. Endocr Pathol. 2015 Nov 3. [Epub ahead of print] doi: 10.1007/s12022-015-9403-6
- Kiel MJ, Sahasrabuddhe AA, Rolland DC, Velusamy T, Chung F, Schaller M, Bailey NG, Betz BL, Miranda RN, Porcu P, Byrd JC, Jeffrey Medeiros L, Kunkel SL, Bahler DW, Lim MS, Elenitoba-Johnson KS. Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome. Nat Commun. 2015 Sep 29;6:8470. doi: 10.1038/ncomms9470.
- Azzato EM, Deshpande C, Aikawa V, Aggarwal C, Alley E, Jacobs B, Morrissette J, Daber R. Rare Complex Mutational Profile in an ALK Inhibitor-resistant Non-small Cell Lung Cancer. Anticancer Res. 2015 May;35(5):3007-12.
- Kenderian SS, Ruella M, Shestova O, Klichinsky M, Aikawa V, Morrissette JJ, Scholler J, Song D, Porter DL, Carroll M, June CH, Gill S. CD33-specific chimeric antigen receptor T cells exhibit potent preclinical activity against human acute myeloid leukemia. Leukemia. 2015 Feb 27. doi: 10.1038/leu.2015.52
- Loaiza-Bonilla A, Clayton E, Furth E, O'Hara M, Morrissette J. Dramatic response to dabrafenib and trametinib combination in a BRAF V600E-mutated cholangiocarcinoma: implementation of a molecular tumour board and next-generation sequencing for personalized medicine. Ecancermedicalscience. 2014 Nov 6;8:479. doi: 10.3332/ecancer.2014.479
- Sehgal AR, Gimotty PA, Zhao J, Hsu JM, Daber R, Morrissette JD, Luger SM, Loren AW, Carroll M. DNMT3A mutational status affects the results of dose-escalated induction therapy in acute myelogenous leukemia. Clin Cancer Res. 2015 Jan 21. doi: 10.1158/1078-0432.CCR-14-0327/li>
- Wilson MA, Morrissette JJ, McGettigan S, Roth DB, Elder D, Schuchter LM, Daber RD. What you are missing could matter: a rare, complex BRAF mutation affecting codons 599, 600, and 601 uncovered by next generation sequencing. Cancer Genet. 2014 Jun 18. pii: S2210-7762(14)00136-7
- Azzato EM, Morrissette JJ, Halbiger RD, Bagg A, Daber RD. Development and implementation of a custom integrated database with dashboards to assist with hematopathology specimen triage and traffic. J Pathol Inform 2014;5:29
- Wertheim GB, Daber R, Bagg A. Molecular Diagnostics of Acute Myeloid Leukemia: It's a (Next) Generational Thing. J Mol Diagn. 2013 Jan;15(1):27-30. doi: 10.1016/j.jmoldx.2012.08.002
- Zhang L, Znoyko I, Costa LJ, Conlin LK, Daber RD, Self SE, Wolff DJ. Clonal diversity analysis using SNP microarray: a new prognostic tool for chronic lymphocytic leukemia. Cancer Genet. 2011 Dec;204(12):654-6. doi: 10.1016/j.cancergen.2011.10.012