Our Domain Experts serve a critical function in the CIViC community. Normally editor-level users, they are tasked with promoting and maintaining high quality data and interpretations in CIViC. Domain Experts are usually scientists or physician scientists, with advanced degrees (PhD or MD level), and demonstrated expertise (publication records) relevant to curation of knowledge for precision medicine in cancer. Domain Experts will typically take responsibility for curating the literature related to a specific cancer type, gene/pathway, or mutation type. They also are responsible for approving any new submissions or revisions from other curators in their domain area. Domain Experts come from two sources. First, individuals with established expertise in the field of precision medicine or domain expertise for a specific domain are identified and invited to join the CIViC community at the Domain Expert level. Alternatively, individuals may be promoted to Domain Expert level based on expertise demonstrated through an exceptional contribution history in CIViC.
Erica Barnell is an MD/PhD candidate at the Washington University School of Medicine with a PhD in Molecular Genetics and Genomics. Thesis work was completed in the Griffith Lab at the McDonnell Genome Institute to advance bioinformatic tools in the precision oncology space. Co-founded and current Chief Science Officer at Geneoscopy LLC, which is a life-sciences start-up company that leverages eukaryotic biomarkers to noninvasively diagnose, assess, and treat gastrointestinal disease.
Dr. Bose is Assistant Professor of Medicine with board certifications in medical oncology and internal medicine at Washington University School of Medicine. His lab studies how dysregulation of signal transduction pathways impacts the development of human cancers. In particular his focus is on the HER2 receptor tyrosine kinase, a member of the EGFR growth factor receptor family, a gene amplified and activated in about 20% of human breast cancer cases. His lab discovered that HER2 activating mutations can be found in many solid tumors, including breast cancer.
Dr. Danos is a Postdoctoral Researcher in the Griffith Lab, with research interests in developing data and knowledge models which can describe and give structure to clinical and preclinical cancer variant knowledge, and in developing standards to enable efficient trasnfer and communication of this information between groups who are generating and curating this data, as well as with the medical and research community at large, in order to address the curation bottleneck which has arisen with increasing incorporation of NGS technology into clinical as well as research contexts. Dr. Danos is also interested in elucidation of the regulatory structure of the genome, and the role of non-coding mutations in cancer.
Dr. Griffith is Associate Professor of Medicine and Assistant Director of the McDonnell Genome Institute at Washington University School of Medicine. He has worked in genomics and bioinformatics since the earliest phase of reference genome sequencing. He contributed to the Mammalian Gene Collection, producing some of the first full-length sequences for many human genes. He also was part of a small team of bioinformaticians that helped sequence and release the first whole genome reference sequence for the severe acute respiratory syndrome (SARS) virus at the height of the 2003 epidemic. He has contributed to the identification of molecular markers at the DNA, RNA and protein level that are useful for diagnosis and prognosis of thyroid, breast, lymphoma and other cancers. His lab’s research is focused on the development of informatics resources and personalized medicine strategies for cancer using genomic technologies. He is a co-creator of the CIViC resource.
Dr. Griffith is an Assistant Professor of Medicine and Assistant Director of the McDonnell Genome Institute at Washington University School of Medicine. Dr Griffith has extensive experience in the fields of genomics, bioinformatics, data mining, and cancer research. His research is focused on improving the understanding of cancer biology and the development of personalized medicine strategies for cancer using genomics and informatics technologies. The Griffith lab develops bioinformatics and statistical methods for the analysis of high throughput sequence data and identification of biomarkers for diagnostic, prognostic and drug response prediction. The Griffith lab uses CIViC to interpret variants identified in cases examined by the WASHU Genomics Tumor Board. He is a co-creator of the CIViC resource.
Dr. Horak is a medical oncologist at the National Center for Tumor Diseases in Heidelberg, Germany. He is involved in the comprehensive genomic analysis of cancer patient cohorts from the precision oncology platform of the German Cancer Consortium - NCT MASTER. He received his MD and PhD from the Medical University of Vienna, Austria.
Raymond Kim received his MD/PhD from the University of Toronto with Dr. Tak W. Mak in Medical Biophysics. He then completed a residency in Internal Medicine, followed by a fellowship in Medical Genetics at The Hospital for Sick Children. His clinical interests lie in transition of care, complex multi-disciplinary care, and adult hereditary disorders. His research interests incorporate novel genomic technologies in clinical care including whole genome sequencing and circulating DNA. He has a large clinical practice in hereditary tumour disorders and is the Scientific Lead in the Ted Rogers Centre for Heart Research, Cardiac Genome Clinic.
Dr. Krysiak is an Instructor at the McDonnell Genome Institute at Washington University School of Medicine where she is involved in the comprehensive genomic analysis of cancer patient cohorts and “n-of-1” studies. She received her PhD in Molecular Genetics and Genomics at Washington University in St. Louis where she focused on the genetics of myelodysplastic syndrome through advanced flow cytometry techniques, primary cell culture and mouse models. She is a founding member of the CIViC team, helping to define the CIViC knowledge model, and a leading content curator and feature development consultant.
Dr. Mardis is the Robert E. and Louise F. Dunn Distinguished Professor of Medicine and Co-director of the McDonnell Genome Institute at Washington University School of Medicine. She is the Editor-In-Chief of Molecular Case Studies and also serves as an editorial board member of Molecular Cancer Research, Disease Models and Mechanisms, and Annals of Oncology. She helped create methods and automation pipelines for sequencing the human genome and was one of the team leaders to first sequence and analyze a whole cancer genome using next-generation sequencing methods. Her studies of cancer genomes have led to characterization of multiple tumor types including pediatric and adult disease as well as the understanding of acquired resistance to targeted therapies. These studies have led to development of methods to identify and characterize changes in genomic heterogeneity and design novel, personalized vaccines for individual patients.
Damian Rieke is a physician and researcher at the Charité Comprehensive Cancer Center and the Department for Hematology, Oncology and Tumor Immunology at Charité - University Medicine Berlin in Berlin, Germany. His main areas of interest include the development of targeted therapy strategies and the targeted use of immune therapeutics as well as their application in clinic.
Dr. Spencer is an Assistant Professor of Medicine and Medical Director of the McDonnell Genome Institute CAP/CLIA Sequencing Lab at Washington University School of Medicine. He holds board certifications in Clinical Pathology and Molecular Genetic Pathology. His clinical focus is on the design, validation and interpretation of clinical sequencing assays, and has contributed to the application of NGS to predict outcomes in acute myeloid leukemia. His research lab studies the genetics and epigenetics of myeloid malignancies, and how mutations in these cancers alter epigenetic gene regulation and contribute to cancer development.
Nick Spies is a staff analyst at the McDonnell Genome Institute and an MD student at Washington University School of Medicine. He has made substantial contributions to the development of genome analysis tools and resources at the Genome Institute including the Drug-Gene Interaction Database. He is a founding member of the CIViC team, helping to define the CIViC knowledge model, and a leading content curator and a feature development consultant.
Dr. Wagner is an Instructor at Washington University School of Medicine, where he leads the development of tools and standards for advancing precision medicine and our knowledge of genomic alterations in cancers. He is also co-director of the international Variant Interpretation for Cancer Consortium (VICC; cancervariants.org) and co-leads the Variant Representation group of the Global Alliance for Genomics and Health (ga4gh.org). In this capacity, he works as a lead developer of the GA4GH Variation Representation Specification (VRS, “verse”), a computational framework for precisely representing and sharing variation across systems (vr-spec.readthedocs.io). Dr. Wagner also holds key roles in the American Society of Hematology Somatic Working Group and the ClinGen Somatic Hematologic Cancer Taskforce.
Dr. Wartman is an Assistant Professor of Medicine and Assistant Director of the McDonnell Genome Institute at Washington University School of Medicine and board certified in medical oncology and internal medicine. His lab studies the role of the H3K27 histone methyltransferase KDM6A in normal and malignant hematopoiesis. KDM6A is mutated in a range of cancers, including acute myeloid leukemia, and is the most commonly acquired event in a mouse model of acute promyelocytic leukemia studied in his lab. He also leads the multidisciplinary Washington University Genomics Tumor Board which focuses on sequencing analysis of clinical cases (N-of-1) or small cohorts presented by cancer care professionals in order to inform clinical decisions and/or advance biological or etiological understanding of cancer subtypes.