Vivianna Maia Van Deerlin, MD, PhD
Professor of Pathology and Laboratory Medicine at the Hospital of the University of Pennsylvania
University of Pennsylvania Perelman School of Medicine
Contact InformationHospital of the University of Pennsylvania
Department of Pathology and Laboratory Medicine
7.103 Founders Pavilion
3400 Spruce Street
Philadelphia, PA, 19104
Precision and Computational Diagnostics, Neuropathology
My research interests are focused in the genetics of neurodegenerative diseases, in particular frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD), and Alzheimer's disease (AD). My lab partners with Penn neurologists working in these areas and the Center for Neurodegenerative Diseases for neuropathology and biochemistry to collect DNA from living individuals and brains from autopsy cases to conduct genetic and genome-wide studies to better understand these diseases and identify therapeutic targets. We also work with 2 genetic counselors and have a special interest in the education of patients and the translation of the genetic findings from research labs to CLIA-certified clinical labs so it can benefit patients and families in our research cohort as well as the population at large.
FTLD manifests clinically with progressive behavioral and/or language deficits. Subtypes of FTLD are classified neuropathologically by the protein composition of cellular inclusion bodies. The most common neuropathological correlates of FTLD have TAR DNA binding protein (TDP-43) inclusions (FTLD-TDP) or tau inclusions (FTLD-tau). FTLD is frequently familial and can occur as an autosomal dominantly inherited disorder. Genes with mutations causing FTLD include MAPT (encodes tau) and GRN (encodes progranulin) among others, each of which is associated with a specific FTLD pathological subtype: GRN mutations with FTLD-TDP and MAPT mutations with FTLD-tau. Studying the genetics of FTLD can help elucidate its etiology and pathophysiology and provide targets for therapy as well as identify risk factors that modify disease risk or phenotype. We perform genetic analysis of FTLD, ALS, PD, and AD to identify mutations in known genes as well as novel genes and study them in families to determine pathogenicity, phenotypic variability and correlations with brain pathology. Several recent major projects led to teh identicication of TARDBP (TDP-43) mutations in ALS and a genome-wide association study of FTLD-TDP which identified a novel genetic risk factor, TMEM106B. Many new avenues of research in these areas are being pursued.
My clinical expertise is in Molecular Pathology. The clinical laboratory I direct is a full service CLIA certified molecular pathology laboratory that encompasses testing in all areas including oncology (hematological and solid tumor), infectious diseases, genetics, hereditary and somatic pharmacogenetics, and identity testing. Currently we have a major emphasis on the development of oncology-based tests including somatic pharmacogenetics. Somatic pharmacogenetics represents somatic changes in tumors that make them more or less susceptible to therapeutic approaches. With the development of new targeted therapies, this type of molecular oncology testing is ever more critical for clinical management of patients. Other areas of growth include molecular infectious disease testing.
In addition, our Department and Lab sponsor a fellowship training program in Molecular Genetic Pathology to train the next generation of molecular laboratory directors and surgical pathologists with expertise in the integration of molecular technologies into the practice of pathology.
M.S. (Biochemistry), University of Chicago, 1986
B.S. (Chemistry), University of Chicago, 1986
Ph.D. (MSTP/Molecular Cell Biology and Biochemistry), Washington University School of Medicine, 1994
M.D. (Medical Scientist Training Program, MSTP), Washington University School of Medicine, 1994
American Board of Pathology, Clinical Pathology, 1998
American Board of Pathology and American Board of Medical Genetics, Molecular Genetic Pathology, 2001
Resident, Clinical Pathology, Hospital of the University of Pennsylvania, Philadelphia, 1994-1997
Fellow, Molecular Pathology, Hospital of the University of Pennsylvania, Philadelphia, 1997-1999
Chief Resident, Division of Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, 1997-1998
Postdoctoral Researcher, Department of Pathology and Laboratory Medicine (Virginia M.-Y. Lee, Ph.D), University of Pennsylvania, 1999-2000
Awards and Honors
Dean's List for Academic Excellence, University of Chicago, 1982-1986
Richter Fellowship for Summer Research, University of Chicago, 1985
Medical Scientist Training Program, Washington University School of Medicine, funded by the National Institutes of Health, 1986-1994
Spencer T. and Ann W. Olin Fellow, Washington University, 1991
Medical Student Award, American Federation for Clinical Research, 1992
Paul E. Strandjord Young Investigator Award, Academy of Clinical Laboratory Physicians and Scientists, 1997
William Pepper Fellowship, Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 1997
Honorable mention poster presentation, resident's competition, United States and Canadian Academy of Pathology, 1998
Association for Molecular Pathology Young Investigator Award (Poster presentation award), 1999
Full Scholarship to the Spokesperson Training Program, College of American Pathologists (A training program to hone communication skills in order to serve as a representative of Pathology to any audience, including the media), 2004
Chairman's Award for Distinguished Service, Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 2014
Memberships and Professional Organizations
College of American Pathologists, 1994 - Present
United States and Canadian Academy of Pathology, 1994 - 1999
Association for Molecular Pathology, 1996 - Present
Society for Neuroscience, 2000 - 2004
National Committee on Clinical Laboratory Standards (NCCLS), 2002 - 2002
American Society of Human Genetics, 2002 - present
Academy of Clinical Laboratory Physicians and Scientists, 2004 - present
Collaboration, Education, and Test Translation Program for Rare Genetic Diseases, NIH Office of Rare Diseases, 2005 - 2010
Alzheimer's Association, 2005 - 2005
National Institutes for Health, 2005 - 2006
Medical Research Council, United Kingdom, 2013 - Present
Motor Neurone Disease Association, United Kingdom, 2014 - Present
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Van Deerlin VM, Sleiman PMA, Martinez-Lage M, Chen-Plotkin A, Wang, L-S, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DMA, Pickering-Brown SM, Seelaar H, Heutink P, vanSwieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer Randall L, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White III CL, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller, BL, Alzualde A, de Munain Lopez A, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IRA, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JPG, Troncoso JC, Kril JJ, Kwok JBJ, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Caballero Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ and Lee VM-Y., Nat Genet 42(3): 234–39, 2010, PMID:20154673
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration.
Chen-Plotkin A,Geser F, Plotkin J, Clark C, Kwong L, Yuan W, Grossman M, Van Deerlin V, Trojanowski J, Lee V, Hum Mol Genet 17(10): 1349-62, 2008, PMID:18223198
Chen-Plotkin AS, Xiao J, Geser F, Martinez-Lage M, Grossman M, Unger T, Wood EM, Van Deerlin VM, Trojanowski JQ, and Lee VM., Acta Neuropath 119(1): 111-22, 2010, PMID:19649643
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
Van Deerlin VM, Leverenz JB, Bekris, LM, Bird TD, Yuan W, Elman LB, Clay D, McCarty Wood E, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu I-L, Yang W-S, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM-Y, Schellenberg GD, Yu C-E, Lancet Neurol 7(5): 409-16, 2008, PMID:18396105
Clinical, genetic, and pathological characteristics of patients with frontotemporal dementia and progranulin mutations.
Van Deerlin VM, Wood EM, Moore P, Yuan W, Forman MS, Clark CM, Neumann M, Kwong LK, Trojanowski JQ, Lee VM-Y, and Grossman M, Arch Neurol 64(8): 1148-53, 2007, PMID:17698705
Assessment of chimerism in the setting of allogeneic hematopoietic cell transplantation.
Van Deerlin VM, Williams E, Molecular Pathology in Clinical Practice, 1st Edition, 2006
Recommended Principles and Practices for Validating Clinical Molecular Pathology Tests.
Jennings LJ, Van Deerlin VM, and Gulley M., Arch Pathol Lab Med 133(5): 743-755, 2009
Competency-Based Education for the Molecular Genetic Pathology Fellow: A Report of the Association for Molecular Pathology Training and Education Committee.
Talbert ML, Dunn ST, Hunt J, Hillyard DR, Mirza I, Nowak JA, Van Deerlin V, and Vnencak-Jones CL, J Mol Diag 11(6): 497-507, 2009, PMID:19797613