A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Sjjawal Ahmad holds a Masters degree in Molecular Biology from Quaid-i Azam Unversity Islamabad. Upon completion of his degree, Sjjawal joined the department of Pathology and Laboratory Medicine at Aga Khan University Pakistan as a Molecular Technologist and since then, he has been developing his expertise in applications related to Molecular Pathology Core, especially Sanger Sequencing and Fragment Analysis.
Sara Akhavanfard, MD, PhD, is an ABMGG Clinical Laboratory Genetics and Genomics Fellow at The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital in Columbus, Ohio. She received her M.D. degree from Iran University of Medical Sciences and Health Services in Tehran, Iran, and her Ph.D. degree in Molecular Medicine from Case Western Reserve University and Cleveland Clinic in Cleveland, Ohio. Dr. Akhavanfard's research is mainly focused on the genomics of solid tumors in pediatrics, adolescents, and young adults (C-AYA). Her interests include integrating novel molecular and cytogenomic diagnostic approaches into the clinical care of C-AYA cancer patients to advance the personalized cancer genomics in these patients.
Neil Anderson, MD, is an Assistant Professor of Pathology and Immunology in the Division of Laboratory and Genomic Medicine at Washington University School of Medicine. He is an Assistant Director of Clinical Microbiology and the Director of the Molecular Infectious Disease Laboratory at Barnes Jewish Hospital in Saint Lewis. Dr. Anderson’s research interests predominantly focus on novel technology and diagnostics, test stewardship, and diagnostic strategies for emerging pathogens.
Noam Auslander, PhD, completed a Bachelor of Science degree in computer science and in biology at Tel Aviv University, Israel. She earned her doctoral degree in computer science from the University of Maryland, with a combined fellowship from the National Cancer Institute, where she studied metabolic dysregulation in cancer via genome scale metabolic modeling, and developed predictors for treatment response and clinical outcome. As a postdoctoral fellow at the National Institute of Biotechnology Information, she developed combined machine learning and evolutionary techniques to model cancer evolution, and to study genomic features of pathogenicity in human viruses.
Michael Bachman, MD, PhD, is an Associate Director of the Clinical Microbiology Laboratory at the University of Michigan. He is a clinical pathologist and physician-scientist with training in clinical microbiology and bacterial pathogenesis. His clinical interests are in molecular diagnostics and diagnosis and infection prevention of multi-drug resistant organisms. In this role, he oversaw the validation and implementation of COVID testing in the clinical laboratory. He is also a principal investigator studying risk factors for Gram-negative bacteremia and Klebsiella pneumoniae infections in hospitalized patients.
Jagadheshwar Balan, MS is a Lead Bioinformatician in the Clinical Genomics Sequencing Laboratory at Mayo Clinic, Rochester, where he leads efforts in informatics for clinical oncology Next Generation Sequencing (NGS) assays and machine learning approaches for genomics data. He has contributed to development of over 20 clinical NGS assays at the Mayo Clinic including developing informatics methods for NeuroOncology and Sarcoma assays that detects gene fusions, splicing events such as EGFR vIII, common internal tandem duplications and small genetic alterations (single nucleotide polymorphism and insertions/deletions) . He previously worked at the University of Chicago, where he helped develop analysis methods for custom NGS panels and whole exome sequencing. Jag completed his Masters in Bioinformatics in 2013 and his thesis was on Computational Framework for Identification of Intact Glycopeptides in Complex Samples. Jag's focus has been primarily on computational methods for NGS based oncology assays and improving pipeline efficiency and standards.
Erica Barnell, PhD, is an MD/PhD candidate at the Washington University School of Medicine. In 2019, she completed her PhD in Dr. Obi Griffith's lab at the McDonnell Genome Institute with 13 publications, 7 abstracts, and a book chapter on tumor heterogeneity. Her thesis surrounded developing bioinformatic tools to alleviate the annotation bottleneck within precision oncology. During her medical training, Dr. Barnell co-Founded a healthcare diagnostics company called Geneoscopy, which uses human biomarkers in stool samples to noninvasively diagnose, monitor, and treat gastrointestinal disease. The company's lead diagnostic is a noninvasive stool-based screening assay to detect colorectal neoplasias in average-risk individuals. The diagnostic was awarded Breakthrough Device Designation from the FDA for it's novel ability to detect precancerous adenomas with high sensitivity. Dr. Barnell was awarded the Olin Kipnis Award from Washington University, the Scholar-in-training award from the American Association of Cancer Research and the Cancer Genomics Consortium, and was recently named 30 Under 30 by Forbes Magazine in the area of healthcare.
Cameron Beech, MD, received his MD from the The University of Toledo College of Medicine and is currently a molecular pathology fellow at Memorial Sloan Kettering Cancer Center. After completeing his anatomic and clinical pathology training at Yale New-Haven Hospital, he completed a fellowship in oncologic surgical pathology at Memorial Sloan Kettering Cancer Center, and is scheduled to complete another fellowship in gastrointestinal, hepatic, and pancreaticobiliary pathology at Yale New-Haven Hospital next year.
Matt Binnicker, PhD is the Director of Clinical Virology and Vice Chair of Practice in the Department of Laboratory Medicine and Pathology at Mayo Clinic. He is a Professor of Laboratory Medicine and Pathology, and serves as the Program Director for the Ph.D. Clinical Microbiology Fellowship at Mayo Clinic. In 2020, Dr. Binnicker began a 2-year term as President of the Pan American Society of Clinical Virology (PASCV). Dr. Binnicker’s research interests focus on the development of rapid molecular methods to diagnose respiratory infections, including the utilization of metagenomic next-generation sequencing. His research has also led to the development of novel, next-generation sequencing methods to identify resistance-associated mutations in cytomegalovirus (CMV), which is an important cause of disease in the transplant population.
Timothy A. Blauwkamp, PhD, is Chief Scientific Officer and co-founder of Karius. Prior to Karius, he led research and lab operations for the long-reads DNA sequencing startup Moleculo, until their acquisition by Illumina where he led technology development for novel sequencing applications. Dr. Blauwkamp received his PhD in Biochemistry from the University of Michigan, followed by postdoctoral research at UofM and Stanford University.
Steven Bleyl, MD, PhD, is the Chief Medical Officer at Genome Medical Services. <br><br>Dr Bleyl has served as CMO at Genome Medical since January of 2017 guiding development of the organization’s clinical care processes in its vision to bring genomics to everyday care. Dr Bleyl is a board-certified in medical genetics with a doctorate degree in human genetics and his background spans experience in molecular biology, experimental embryology, clinical care and administrative oversight of clinical services across an integrated health system. He maintains an academic affiliation as an adjunct Associate Professor at the University of Utah where his clinical practice focuses on cardiovascular genetics with a pediatric emphasis. Prior to this role, he directed the Clinical Genetics Institute (CGI) for Intermountain Healthcare where he oversaw the provision of genetic services, implementation of rapid exome sequencing in neonates, deployment of a Genetic Testing Stewardship Program and development of a system-wide infrastructure for storage and use of genomic data.
Kelly Bolton, MD, PhD, is an assistant attending on the leukemia service at Memorial Sloan Kettering Cancer Center. She has a PhD in genetic epidemiology and is a medical oncologist. Her research surrounds clonal hematopoiesis in cancer patients including the influence of oncologic therapy and the risk of therapy-related myeloid neoplasms. She leads the clonal hematopoiesis clinic at Memorial Sloan Kettering Cancer Center.
Susan Butler-Wu, PhD, is the Director of Clinical Microbiology at LAC+USC Medical Center and an Associate Professor in the Department of Pathology at Keck School of Medicine of USC in Los Angeles, California. She is a Diplomate of the American Board of Microbiology, a member of the Editorial Board for the Journal of Clinical Microbiology and is active in committee work for the American Society of Microbiology and the Clinical Laboratory Standards Institute. Dr. Butler-Wu’s research interests include rapid diagnostics for the detection of infection and antimicrobial resistance.
Miguel Cantu, MD, is a PGY-5 Hematopathology Fellow at New York Presbyterian-Weill Cornell Medical Center. A native of Texas, he completed his medical training at the University of Texas Medical School at Houston (McGovern Medical School, 2011-2016). He completed his Anatomic and Clinical Pathology Residency at New York Presbyterian-Weill Cornell Medical Center (2016-2020) and served as Chief Resident of Anatomic Pathology (2019-2020) and Assistant Chief Resident of Anatomic Pathology (2018-2019). He will be following his Hematopathology Fellowship year with additional fellowship training in Molecular Genetic Pathology at the University of Texas-Southwestern in 2021. His research interests include lymphoproliferative disorders arising in immunocompromised individuals, including post-transplant lymphoproliferative disorders and HIV-associated lymphoproliferative disorders.
Ozge Ceyhan-Birsoy, PhD is a clinical molecular geneticist and Associate Director of the Diagnostic Molecular Genetics laboratory at Memorial Sloan Kettering Cancer Center. Dr. Birsoy completed her clinical molecular genetics training at Harvard Medical School. She subsequently served as an Assistant Director at the Laboratory for Molecular Medicine (LMM) and Broad Institute's Clinical Research Sequencing Platform (CRSP), where she worked on developing tools to facilitate the integration of genomic sequencing into personalized medicine. She took leading roles in studies exploring the use of genomic sequencing in newborn and adult health, including the BabySeq and the MedSeq. Dr. Birsoy's research currently focuses on improving the understanding and molecular diagnosis of hereditary cancers via matched tumor-normal sequencing.
Pranil Chandra, DO, FCAP, FASCP is a member of the American Society of Clinical Pathology, College of American Pathologists, and Association of Molecular Pathology (AMP). Dr. Chandra is currently the Vice-Chair of Coverage Decisions for the Economic Affairs Committee. In this role, Dr. Chandra provides leadership to AMP's response on any matters related to coverage of molecular pathology testing. Dr. Chandra serves as Chief Medical Officer and Vice President of Genomic and Clinical Pathology Services at PathGroup, which is one of largest privately-owned pathology groups in the United States today. Dr. Chandra holds board certifications in anatomic and clinical pathology, hematopathology and molecular genetic pathology. He completed his AP/CP training and fellowships in hematopathology at NYU Langone Medical Center. This was followed by oncologic pathology and molecular pathology fellowships at the University of Texas-MD Anderson Cancer Center, where he served as Chief Fellow.
Jose Manuel Collados leads ABB Robotics for Healthcare team, new venture from ABB Robotics into Healthcare, from Houston with the aim to combine ABB large industry experience and technology with Healthcare experts to support safety, quality, productivity and patient care in various Healthcare operations, like laboratory and pharmacy automation, supply chain, logistics and hazarous tasks. Jose Manuel has been working 22 years in ABB where he could gain experience in all aspects of technology engineering, project management and sales for fields like robotics, power systems, power electronics and motion. He could also lead or participate in new ventures from ABB in renewable energy (wind and solar), traction and robotics.
Garry R. Cutting, MD, is the Aetna/U.S. Healthcare Professor of Medical Genetics, Pediatrics and Medicine in the McKusick-Nathans Department of Genetic Medicine of the Johns Hopkins University School of Medicine. He has been the Medical Director of the DNA Diagnostic Laboratory of Johns Hopkins Genomics since 1995. He directed the Medical Genetics Residency Program at Hopkins from 1995 to 2004 and Clinical Genetic Laboratory Training Program from 1995 to 2018. As Editor of the journal Human Mutation, Dr. Cutting oversees the review and publication of manuscripts reporting the mechanism, distribution and phenotype consequences of variation in our genomes. Dr. Cutting’s primary research interests lie in the interpretation of DNA variation and their effect upon human phenotypes. Dr. Cutting’s lab focuses on the effect of common and rare variants in the CFTR gene that cause the single gene disorder cystic fibrosis (CF). His team operates the CFTR2 database, a resource composed of clinical and genetic data on almost 90,000 individuals with CF world-wide. His laboratory also studies the effect of clinically approved and novel modulators upon CFTR protein bearing disease-causing variants. Dr. Cutting’s laboratory is also leader in the identification and characterization of genetic modifiers of CF. His group is currently collaborating with teams at UNC and UW, Seattle to identify common and rare modifier variants of disease severity by whole genome sequencing. Dr. Cutting is the recipient of the Paul di Sant’Agnese Distinguished Scientific Achievement Award from the Cystic Fibrosis Foundation and a MERIT award from the National Institutes of Health. He has published more than 180 peer-reviewed articles. Dr. Cutting was elected to the Society of Pediatric Research (1992), the American Society of Clinical Investigation (1995) and the Association of American Physicians (2017).
Mia Donna Dabrowski, MT(ASCP) is the Molecular Diagnostics Department Supervisor at AdventHealth Lab in Orlando, Florida. She lends both operational leadership and technical oversight to the molecular pathology team. In her current role she evaluates laboratory test systems, conducts method validation and optimization studies of molecular protocols including Next-Generation Sequencing panels, and oversees assay implementation for clinical service. She earned her Bachelor of Science in Medical Technology at Velez College and is currently pursuing a dual degree in Master of Healthcare Administration and Master of Business Administration at AdventHealth University and Stetson University, respectively.
Sanchita Das, MD, D(ABMM), received her medical degree from Calcutta University and completed residency in Medical Microbiology from Postgraduate Institute of Medical Education and Research, Chandigarh, India. Her professional and research interests include development of diagnostic assays for infectious diseases and using novel methods to understand the pathogenesis and epidemiology of infections. She is the Acting Director of Molecular Diagnostics Laboratory at the National Institutes of Health, Clinical Center.
Sandeep Dave, MD, MS is the Professor of Medicine and Director of Cancer Genetics and Genomics Program at the Duke Cancer Institute of Duke University. Sandeep Dave received his MS, MD, and MBA at Northwestern University. He completed his clinical and post-doctoral training at Northwestern and the National Institutes of Health (NIH) in Bethesda, Maryland. With a background in oncology and genomics, Dr. Dave is Professor of Medicine at Duke University in Durham, North Carolina. He is Director of the Cancer Genetics and Genomics Program at Duke. His research program is focused on the genetic mechanisms underlying lymphomas. Dr Dave’s work has been published in many peer-reviewed journals including Cell, Nature Genetics, Blood, and the New England Journal of Medicine. He has been the recipient of many honors and awards including the Research Scholar Award from the American Cancer Society and a career award from the Doris Duke Foundation. He was elected to the American Society of Clinical Investigator, the honor society of physician scientists and the Scientific Advisory Board of the Lymphoma Research Foundation. Dr Dave is a member of the American Society of Hematology and the American Society of Clinical Oncology.
Kurtis Davies, PhD
Richard Davis, PhD is the Regional Director of Microbiology for Providence Health Care in Eastern Washington. He completed his Clinical Microbiology Fellowship at the University of Utah/ARUP Laboratories and is a Diplomate of the American Board of Medical Microbiology. Dr. Davis is a certified Medical Laboratory Scientist and received his PhD from the University of Iowa studying the immune response to the tropical parasite Leishmania. He gives lectures on infectious disease diagnostics for the Providence Medical Laboratory Science program and WSU Medical School. He shares daily pictures on Twitter of cultures and pathogens from the clinical microbiology lab under @RichDavisPhD.
Ryan DeCoste, MD, is a dermatopathology fellow at the QEII Health Sciences Centre, Nova Scotia Health Authority, in Halifax, Nova Scotia, Canada. Prior to his fellowship, he completed his MD and residency training in Anatomical Pathology at Dalhousie University. In addition to dermatopathology, he has an interest in the molecular biology of solid tumours, including skin malignancies. His areas of research include the molecular characterization of Merkel cell carcinoma.
Josh Deignan, PhD, FACMG, is an Associate Clinical Professor in the Department of Pathology and Laboratory Medicine in the David Geffen School of Medicine at UCLA. He is one of the Associate Directors of the UCLA Molecular Diagnostics Laboratories, specializing in the areas of molecular genetics and genomics. He performed his undergraduate work in Genetics at the University of California, Davis, and he received his Ph.D. in Pathology and completed his medical genetics fellowship training at UCLA. He is board-certified by the American Board of Medical Genetics and Genomics in Clinical Molecular Genetics and Genomics and is licensed by the state of California as a Clinical Genetic Molecular Biologist (CGMB).
Carlos del Rio, MD is Distinguished Professor of Medicine at Emory University School of Medicine, and professor of global health and epidemiology at the Rollins School of Emory University. He serves as the Executive Associate Dean of Emory University School of Medicine at Grady Health System, and is the co-director and principal investigator of the Emory Center for AIDS Research. Outside of Emory, Dr del Rio is the Foreign Secretary of the National Academy of Medicine, Chair of the Scientific Advisory Board of PEPFAR and member of UNAIDS Scientific and Technical Advisory Committee. Dr. del Rio also works on emerging infections, epidemic and pandemics. During the 2009 Pandemic Influenza A (H1N1) he was a member of the WHO and CDC advisory teams and during the COVID-19 pandemic Dr. del Rio has been a leader locally and nationally, doing research, developing policies, writing scientific publications and making countess media appearances. Before joining Emory faculty in 1996, del Rio was executive director of CONAIDA, the agency of the Mexican government responsible for AIDS Policy.
Amy DeZern, MD, MHS primary clinical and research interests are focused on bone marrow failure disorders. She has expertise in the diagnosis and treatment of myelodysplastic syndromes (MDS), aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), and other bone marrow failure syndromes as well as acute leukemias. She sees clinic patients weekly with these diagnoses as well as patients in need of bone marrow transplants for the same disorders. Dr. DeZern greatly enjoys taking care of patients with bone marrow failure and hematologic malignancies, and is dedicated to improving the care and outcomes of patients with these conditions. To that end, she is an active clinician scientist who specializes in clinical studies of diagnostics and therapeutics for marrow failure. She is the principal investigator of several clinical trials treating patients with severe aplastic anemia using a specialized bone marrow transplant regimen at Johns Hopkins as well as the PI of multiple other study protocols for novel therapeutics in MDS. Her work has resulted in multiple publications in the scientific literature and presentations at national meetings. She is also involved with the Aplastic Anemia and MDS International Foundation and is the local PI of the MDS Clinical Research Consortium. Additionally, she is the Deputy Chair of the National MDS Study.
Daniel Diekema is a Professor of Internal Medicine and Pathology at the University of Iowa Carver College of Medicine. He is the director of the Division of Infectious Diseases, associate director of the Clinical Microbiology Laboratory, and associate hospital epidemiologist at the University of Iowa Healthcare. Dr. Diekema’s clinical and research interests include the role of the diagnostic laboratory in infection prevention and antimicrobial stewardship. He has served on national committees that establish standards in clinical microbiology and infection prevention, including the Clinical and Laboratory Standards Institute (CLSI) and the CDC’s Healthcare Infection Control Practices Advisory Committee (HICPAC), and he is a past-president of the Society for Healthcare Epidemiology of America (SHEA).
Maria Figueroa, MD received her MD from Universidad del Salvador, School of Medicine in Buenos Aires, Argentina in 1997 and, She trained as a hematologist at the Institute for Hematological Research “Mariano Castex” from the National Academy of Medicine in Buenos Aires, where she later joined the Malignant Hematology Department. In 2004 Dr. Figueroa joined Dr. Ari Melnick’s laboratory in New York where her research focused on the characterization of epigenetic deregulation in myeloid malignancies, particularly Acute Myeloid Leukemia and Myelodysplastic Syndromes. In 2011 Dr. Figueroa started her independent career as an Assistant Professor at the University of Michigan Medical School, where she continued her work in the field of epigenetic regulation of normal and malignant hematopoiesis. In September 2016 she was recruited as Associate Professor to the University of Miami Miller School of Medicine, Dept. of Human Genetics. She also serves as the Co-Leader Cancer Epigenetics Research Program and Assistant Director for Translational Research for the Sylvester Comprehensive Cancer Center. Throughout her career, Dr. Figueroa has been the recipient of scholar awards from the SASS Foundation for Cancer Research, the American Society of Hematology, The Leukemia and Lymphoma Society and the Doris Duke Charitable Foundation. The Figueroa lab studies the role of epigenetic modifications in transcriptional regulation during normal and malignant hematopoiesis. The lab’s focus is mainly on how changes in normal chromatin patterns occur during malignant transformation and how these changes may contribute to the leukemogenic process and disease phenotype. They use a combination of computational approaches based on genome-wide next generation sequencing data as well as in vitro and in vivo modeling to determine the consequences of the epigenetic abnormalities that they identify. In addition, they seek to harness the power of epigenomics for the development of molecular biomarkers predictive of therapeutic response and clinical outcome.
Adam Fisch, MD, PhD, is a chief resident in anatomic pathology at Massachusetts General Hospital. After graduating from the Medical Scientist Training Program at the University of Maryland School of Medicine and joining the residency program at MGH, he completed an intercalated fellowship in the Harvard-wide molecular genetic pathology program and returned to his final year of residency. His clinical and research interests involve the integration of molecular techniques and findings in surgical pathology to discover biological markers and targetable pathways in tumors, particularly those of the head and neck. Following residency, he will complete a fellowship in head and neck pathology at MGH.
Birgit Funke, PhD, FACMG received her Ph.D. from the University of WÃ¼rzburg, Germany and trained as a postdoctoral fellow at the Albert Einstein College of Medicine where she identified the gene for 22q11 deletion syndrome. She is Board certified in Clinical Molecular Genetics, served as Associate Professor of Pathology at Harvard Medical School and was among the first worldwide to implement clinical NGS in 2011 at the Laboratory for Molecular Medicine in Cambridge. In addition, Dr. Funke is known for leading international efforts to develop professional standards and guidelines for clinical genomic knowledge curation as well as development and validation of clinical genomic tests. Today, Dr. Funke is Vice President of Genomic Health at Sema4. Her long-term goal is to help increase the use genomic testing in clinical care, especially for disease prevention.
Thomas Gajeweski, MD, PhD
Omai Garner, PhD is an Associate Clinical Professor and Director of Clinical Microbiology in the UCLA Health System. He received his PhD from UC San Diego in Biomedical Sciences. He was a Postdoctoral Clinical Microbiology CPEP Fellow in the Department of Pathology at UCLA, and a former McNair Scholar. Dr. Garner is Board Certified by the American Board of Medical Microbiology. Dr. Garner's research focuses on novel Point of Care Devices for infectious disease diagnosis in the developing world.
Matthew Gayhart, MD, is a molecular genetic pathology fellow at Cedars-Sinai Medical Center in Los Angeles. He completed his AP/CP residency at Virginia Commonwealth University in 2020 and will be completing a second fellowship in clinical informatics at Massachusetts General Hospital for 2021-2022. His current research activities include using image analysis and gene expression to predict response to targeted therapeutics.
Marios Giannakis, MD, PhD is an Assistant Professor of Medicine at Harvard Medical School, a translational researcher and a physician in the Gastrointestinal Cancer Center in the Division of Medical Oncology at Dana-Farber Cancer Institute in Boston, MA. He received his medical and doctoral degrees from Washington University in Saint Louis and completed his residency in internal medicine at Brigham and Women’s Hospital and fellowship training in medical oncology and hematology at the Dana-Farber Cancer Institute. As a physician-scientist, Dr. Giannakis specializes in the treatment of gastrointestinal cancers and is an independent investigator whose laboratory and research focuses on the pathogenesis of colorectal cancer and the development of novel targeted and immune-based therapies for patients with this disease.
Christopher Gilbert, DO, MS, FCCP is an Interventional Pulmonologist currently at Swedish Cancer Institute in Seattle, Washington. He completed his Pulmonary and Critical Care Medicine fellowship at Thomas Jefferson in Philadelphia followed by an Interventional Pulmonology fellowship at Johns Hopkins in Baltimore. His clinical and research interests include lung cancer diagnosis and staging, management of central airway obstruction, and malignant pleural disease.
William A Glover II, PhD received his PhD in Molecular Microbiology and Immunology from the Johns Hopkins Bloomberg School of Public Health in 2010. He completed a post-doctoral Fellowship in Clinical and Public Health Microbiology at the University of Washington Medical Center in Seattle, WA. He is a diplomate of the American Board of Microbiology and is active in the American Society for Microbiology and the Association of Public Health Laboratories. Currently, he is an Assistant Laboratory Directory at the North Carolina State Laboratory of Public Health where he oversees the Infectious Diseases Units. Throughout his scientific career he has been involved in teaching and mentoring others.
Eric Goold is a PGY-3 AP/CP resident at the University of Utah. He received his undergraduate degree from Brigham Young University in Physiology and Developmental Biology and received his medical degree from Virginia Commonwealth University. His academic interests include the genomic and epigenetic characteristics of solid tumors and specifically glial neoplasms. He recently accepted an MGP fellowship position for 2022-2023 and a Neuropathology fellowship position for 2023-2025 at the University of Utah.
Elan Hahn, MD, is an Anatomical Pathology resident at the University of Toronto. He completed his undergraduate medical training at the Michael G. DeGroote School of Medicine, McMaster University. He will be attending the University of Washington for Molecular Genetic Pathology fellowship training in 2022-2023. His research interests include molecular pathology, germline sequencing, mosaicism, and quality improvement.
William Hahn, MD, PhD is the William Rosenberg Professor of Medicine in the Department of Medical Oncology at the Dana-Farber Cancer Institute and Harvard Medical School and an Institute Member of the Broad Institute of MIT and Harvard. He is the Chief Scientific Officer at the Dana-Farber Cancer Institute. Dr. Hahn has made numerous discoveries that have informed our current molecular understanding of cancer and have formed the foundation of new translational studies. Dr. Hahn and his colleagues helped demonstrate that activation of the reverse transcriptase telomerase plays an essential role in malignant transformation. This observation provided the means to create novel experimental model systems to identify and characterize the cooperative genetic interactions that lead to malignant transformation. Together with his colleagues at the Broad Institute, he helped develop genome scale tools and technology to perform somatic cell genetics in human cells. His laboratory has pioneered the use of integrated functional genomic approaches to identify and validate cancer targets. The tools, models and approaches that his laboratory has developed are widely used worldwide to discover and validate molecularly targeted cancer therapies. Dr. Hahn and his collaborators are now engaged in clinical trials testing whether inhibition both of new oncogenes or synthetic lethal partners identified by these approaches will lead to clinical responses. Dr. Hahn has served as the President of the American Society for Clinical Investigation and has been elected to the Association of American Physicians. Dr. Hahn has been the recipient of the Wilson S. Stone Award from M.D. Anderson Cancer Center for outstanding research in cancer (2000), a Howard Temin Award from the National Cancer Institute (2001), the Ho-Am Prize in Medicine (2010), the Richard and Hinda Rosenthal Award from AACR (2015) and the Claire and Richard Morse Award (2019).
Eitan Halper-Stromberg, MD, PhD is currently a clinical pathology resident at Johns Hopkins. Eitan is from Takoma Park, Maryland. He completed his undergraduate degree in mechanical engineering at University of Maryland, College Park. He then worked for LexisNexis as a software engineer before returning to graduate school. He received a PhD in Human Genetics at Johns Hopkins University, with a focus in bioinformatics. While in graduate school, he met his wife at a swing dancing lesson. Five years later, they moved to Denver where she completed her psychiatry residency. He did a post doctoral fellowship at the University of Colorado/National Jewish Health Hospital and subsequently attended University of Colorado School of Medicine. While in Colorado, he contributed to the research of the COPDGene Study. Eitan enjoys spending time with his wife and two children, camping, running and following current events.
Justin Hammerling, MBA is the AVP of Innovations and manages the daily operation of the ProMedica Innovations Center and the ProMedica Innovations team. Working in partnership with the executive management team, Justin creates leading-edge solutions in support of ProMedica’s mission and goals while providing best-in-class services and expert resources to life science entrepreneurs and inventors. An expert strategist and accessible leader, Justin also serves as President for Kapios Health, a HIT company. In this position, Justin is known for driving growth and profitability, as well as his expertise in developing and delivering technology solutions for hospitals, health systems and medical practices. Justin understands healthcare structures and the complimentary function of leading-edge technology in healthcare. He is dedicated to working with inventors to develop their ideas and help them successfully market their products to the medical marketplace. Justin earned his BA and Masters degrees from the University of Colorado, as well as an MBA from the University of Toledo. Justin was recognized by Modern Healthcare for being one of the nation’s top 25 innovators in healthcare for 2019.
Amanda Harrington, PhD, D(ABMM), is an Associate Professor and Vice Chair for Clinical Pathology in the Department of Pathology and Laboratory Medicine at Loyola University Chicago and Director of the Clinical Microbiology Laboratory at Loyola University Medical Center in Maywood, IL. She earned her doctoral degree in microbiology from the University of Kansas, did her post-doctoral fellowship training in clinical microbiology at the University of Washington in Seattle, WA, and she is a diplomate of the American Board of Medical Microbiology. She is a member of the Association for Molecular Pathology, American Society for Clinical Pathology, Infectious Disease Society of America, and the South Central Association for Clinical Microbiology. She is currently serving as the President and Branch Representative to the Council on Microbial Sciences for the Illinois Society for Microbiology, as well as being an active member of the American Society for Microbiology. Her research interests include clinical diagnostic testing and utilization as well as quality metrics for clinical microbiology.
Reece Hart, PhD is a software engineering consultant for biotechnology and healthcare companies. He has deep experience in genome interpretation, data architecture, software engineering, and team building. His clients have ranged from 10-person startups through 10,000+ person multinational pharmaceutical companies. Reece was previously the CTO of Genome Medical, among the first hires at Invitae, a director of engineering at 23andMe, and a scientist and manager of research computing at Genentech. Reece earned a PhD in molecular biophysics and a MS in computer science from Washington University in St. Louis.
D. Jane Hata, PhD, D(ABBM) is the Director of the Clinical Microbiology and Molecular Virology Laboratories at Mayo Clinic in Florida, and Assistant Professor of Laboratory Medicine and Pathology, Mayo Clinic Alix School of Medicine. Her responsibilities include technical oversight of the Bacteriology and Molecular Virology Laboratories, including microbiological testing for the Mayo Clinical Laboratories reference service. She is a past member of the Microbiology Resource Committee for the College of American Pathologists, and the Committee on Postgraduate Educational Programs for the American Society for Microbiology. Dr. Hata received her Ph.D. from the University of Missouri â€“ Columbia, and completed a Fellowship in Clinical Microbiology at the Mayo Clinic, Rochester, Minnesota. Her research interests include mechanisms of antimicrobial resistance, diagnosis of fungal infections, and development of molecular diagnostic techniques for clinical laboratory.
Madhuri Hegde, PhD is the Vice President and Chief Scientific Officer of Global Laboratory Services at PerkinElmer where she is responsible for ten clinical laboratories around the world. She also holds appointments of Adjunct Professor of Pediatrics at both Emory University and Georgia Tech. Dr. Hegde is a board-certified molecular geneticist with over 150 peer-reviewed publications throughout her career. She has over 20 years experience in clinical diagnostics, which includes laboratory administration, management, developing tools for comprehensive omics analysis and interpretation for genomic variation, and consultation with molecular diagnostic companies. She has served on several FDA panels related to NGS and other molecular technologies. She serves on serves on several CAP and ACMG committees involved in writing guidelines for clinical laboratory. She has served on CAP Molecular Genetics committee overseeing proficiency testing challenges for molecular assays including NGS. The focus of her clinical work has been the development and implementation of high-throughput strategies for discovery and clinical testing for rare disorders using next generation sequencing (NGS), robotics, clinical exome and genome sequencing, and oligonucleotide array platforms. Her more recent work is focused developing strategies for offering clinical genome sequencing for newborns and adult (neurology) populations. Her research work is focused on neuromuscular disorders and understanding the impact rare variant burden in genetic diseases. Before joining PerkinElmer Genomics to build a global laboratory network focused on clinical Omics, she was the Executive Director of Emory Genetics Laboratory and Professor of Genetics and Pediatrics at Emory University. She received a B.Sc. and a M.Sc. from the University of Bombay, India, and a Ph.D. from the University of Auckland, New Zealand. She completed post-doctoral studies at Baylor College of Medicine and is a diplomate of American Board of Medical Genetics and Fellow of the American College of Medical Genetics and Genomics.
Nicole Hoppman, PhD received her Ph.D. in Human Genetics from the University of Maryland School of Medicine. She then completed fellowships in both clinical molecular genetics and clinical cytogenetics at Mayo Clinic and is currently a board-certified cytogeneticist/molecular geneticist at Mayo Clinic. Dr. Hoppman is an Associate Professor of Laboratory Medicine and Pathology and is also the Program Director of the Laboratory Genetics and Genomics Fellowhsip. Her interests include the evaluation and implementation of novel molecular technologies to increase diagnostic yield for both constutitional disorders and hematologic malignancies.
Javeed Iqbal, MS, PhD is the Associate Professor of the Department of Pathology and Microbiology at the University of Nebraska Medical Center, Omaha, NE. His research focus is on Peripheral T-cell lymphoma. To understand molecular mechanism of lymphomagenesis. To develop molecular classifiers using genomic approaches.
Egiebade (Bade) Iriabho, MSc currently has the title System Administator in the division of Genomic Diagnostics & Bioinformatics in the department of Pathology at the Uniersity of Alabama at Birmingham, but mostly plays a role of a Bioinformatician and data scientist. His educational background is in Electrical and Computer Engineering as well as Applied Mathematics. He has worked across a broad spectrum of specializations in information Technology field, from full cycle application development to system administration and he has interest in Artificial Intelligence, Machine Learning, Internet of Things (IoT) and Computer Graphics. On one of the projects he is currently working on, he is researching and utilizing a set of technologies that take Whole Slide Images (WSI) and convert them to Deep Zoom Images (DZI), a technology similar to Google Maps, but for images with the advantage here being that you can view large WSI with almost any internet connected device with a browser without loading issues.
Audrey Jajosky, MD, PhD is a Molecular Genetic Pathology fellow at the University of Michigan. While an NIH predoctoral fellow, she earned her MD and PhD in Cancer Cell Biology from WVU. During clinical pathology residency at Case Western Reserve University, she utilized next-generation sequencing to help characterize the molecular features of low-grade lymphoproliferative disorders, clonal cytopenia of undetermined significance (CCUS), and pediatric and adult glioblastomas. Audrey is especially excited by the therapeutic applications of molecular advances: developing new classes of drugs like nusinersen for spinal muscular atrophy, using gene editing to cure inherited disorders like sickle cell disease, and rescuing patients by delivering disease-resistant cells from special donors. She enjoys integrating seemingly unrelated findings from diverse disciplines including molecular genetics, evolutionary biology, oncology, transfusion medicine, and global health to solve clinical problems. Evolutions genetic engineering can inspire new therapies that exploit, for example, the prokaryotic CRISPR-Cas systems that enable precise genome-editing, the red blood cell variants that have prevented human extinction from malaria, and the white blood cell variant used to cure the Berlin Patient of HIV. Audrey is always looking for low-hanging fruit opportunities to combat global threats like malaria, cancer, and COVID-19 while advocating for pathologists and pathology laboratories on the frontlines. Soon she hopes to join the faculty at an academic medical center committed to advancing molecular diagnostics and therapeutic pathology.
Gail Javitt, JD provides strategic FDA regulatory advice for leading medical device, diagnostics, pharmaceutical, biological products, and human cellular, and tissue-based products (HCT/Ps) throughout the product life cycle and has successfully resolved disputes at both the pre- and post-market stage. She also has significant experience advising clinical laboratories on FDA and CLIA requirements for laboratory developed tests. Ms. Javitt's experience prior to joining Hyman, Phelps & McNamara includes serving as a partner in a leading Washington, DC health law practice and as a law and policy director at the Genetics and Public Policy Center, part of Johns Hopkins University. At the Center, she was responsible for developing policy options to guide the development and use of reproductive and other genetic technologies. Earlier in her legal career, Ms. Javitt clerked for the Honorable Gary Taylor of the U.S. District Court for the Central District of California. In addition, Ms. Javitt has published and spoken widely on issues at the intersection of law, science, ethics and policy, including FDA regulation of genetic testing, precision medicine, and next-generation sequencing. Her academic experience has included serving as a faculty member at the Berman Institute of Bioethics at Johns Hopkins University and as an adjunct professor at the Georgetown University Law Center, American University's Washington College of Law, and the University of Maryland School of Law. She was previously a Greenwall Fellow in Bioethics and Health Policy, a collaborative effort between Johns Hopkins University and Georgetown University.
Sabah Kadri, PhD, is the Director of Bioinformatics and Assistant Professor of Pathology at Lurie Children’s Hospital of Chicago, where she leads efforts in bioinformatics for precision medicine in pediatrics, including setting up clinical genomics tools and pipelines in the cloud. Her team designs bioinformatics and machine learning solutions for pediatric somatic and germline testing using panel and whole genome sequencing (WGS). She was previously the Director of Bioinformatics at the Genomic and Molecular pathology division at the University of Chicago, where she led the design, implementation and support of clinical testing for adult oncology including development of novel tools and pipelines for cutting-edge next generation sequencing (NGS) applications, such as UCM-OncoPlus, a comprehensive diagnostic 1200 gene panel that can perform variant calling, copy number, gene-fusion, and MSI detection. With a background in computer engineering, Dr. Kadri earned a PhD in Computational Biology at Carnegie Mellon University (Pittsburgh, PA) using an interdisciplinary approach to study small noncoding RNAs in echinoderm development. In 2012, she joined the Lander Lab at the Broad Institute, where she continued working on noncoding RNA populations such as large non-coding RNAs (lincRNAs) and end-RNASeq technologies. Dr. Kadri has significant expertise in NGS technologies and her research work has been focused on using the power of NGS methods innovatively in the field of computational genomics.
Chris Karlovich is Associate Director of the Molecular Characterization (MoCha) Laboratory at the Frederick National Laboratory for Cancer Research (FNLCR). The mission of MoCha is to develop genomic assays in support of research and clinical studies sponsored by the National Cancer Institute. In this capacity, MoCha has played a key role in several NCI precision medicine initiatives including NCI-MATCH, NCI-COG Pediatric MATCH and MPACT. Technologies either implemented or under validation at MoCha include whole exome sequencing, RNA-Seq, single cell genomics, and TSO500 ctDNA for liquid biopsies. Prior to coming to FNLCR Dr. Karlovich was at Clovis Oncology, where he provided scientific and operational oversight over molecular diagnostics and companion diagnostic development for rociletinib, a mutant-selective inhibitor of EGFR, and for rucaparib, a PARP inhibitor. Dr. Karlovich also spent nine years at Roche Molecular Diagnostics in biomarker discovery and in vitro diagnostic (IVD) test development.
Tess Karre, MD earned her medical degree at Creighton University and received her Anatomic and Clinical Pathology residency training at Penrose-St. Francis in Colorado Springs. Follwing residency, she completed a Medical Microbiology fellowship at the Mayo Clinic. She is the Medical Director of Microbiology and Serology for Methodist and Children's Hospitals in Omaha, NE and oversees all of the major areas of microbiology including aerobic and anaerobic bacteriology, mycology, mycobacteriology, parasitology, virology, serology, and molecular infectious diseases. As a practicing pathologist in a community setting, Dr. Karre also participates in the Anatomic Pathology service and has a special interest in infectious diseases pathology.
Cihan Kaya, PhD, is a lead bioinformatics scientist in the Molecular and Genomic Pathology Laboratory, Department of Pathology, University of Pittsburgh Medical Center. He received his B.S. in chemical engineering and physics from Bogazici University, Istanbul, Turkey and a Ph. D. in computational biology at University of Pittsburgh. Before joining Molecular and Genomic Pathology lab, Dr. Kaya worked on various projects in computational structural biology, mathematical modeling of biological processes and computational neuroscience. His multi-scale 3D model of dopaminergic neurons was the one of the major accomplishment of National Center for Multiscale Modeling of Biological Systems. Dr. Kaya’s research interests span medical informatics, bioinformatics, machine learning and data science with applications in integration multiomic analysis of multiscale clinical data sets, large scale sequencing and biomarker discovery. He is working on deployment of scalable NGS testing on modern deployment infrastructures.
Rossio K Kersey, PhD, Clinical Scientist Joint Pathology Center Biography Dr. Kersey is a Clinical Scientist at the Molecular Pathology Division of the Joint Pathology Center (JPC), Bethesda, MD where she works designing and validating next generation sequencing assays for oncology panels and for the identification of infectious diseases pathogens. She received her Master degree in Microbiology at Oklahoma State University, a Doctoral degree at New Mexico State University, and did her post doc at NIDDK, NIH. Before working at JPC, she worked in the private sector designing, conducting and validating Clinical Diagnostics assays for infectious diseases surveillance, which were launched under aggressive datelines. She is an expertise using Next Generation Sequencing (NGS) tools for the identification of bacterial pathogens and multidrug resistance genes, for studying the effect of a drug in the gut microbiome as well as for the clinical validation of oncology panels.
Eun a Kim, MSc received her MSc in Laboratory Medicine and Biomedical Science and BSc in Biology from the University of Utah. She is currently the Lead Technologist in the clinical laboratory at the IDbyDNA in Salt Lake City, Utah and has over 12 years of research and clinal experience in molecular biology, biochemistry and microbiology. In her role she oversees and mentors laboratory technologists in diagnostic testing, troubleshooting and developing new products and services. Prior to joining IDbyDNA she worked as a Research Specialist for the University of Utah.
Stephen F. Kingsmore, MD is President/CEO of the Rady Children’s Institute for Genomic Medicine (RCIGM), San Diego, which is implementing pediatric genomic medicine on an unprecedented scale. Previously he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the Univ. of Missouri-Kansas City and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. He has been the President/CEO of the National Center for Genome Resources, Santa Fe, New Mexico, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, and Assistant Professor at the University of Florida’s School of Medicine. Dr. Kingsmore received BSc, MB, ChB, BAO and DSc degrees from the Queen’s University of Belfast. He did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, and received the 2013 Scripps Genomic Medicine award and 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. In 2018, RCIGM set a Guinness World Record for fastest genomic diagnosis (19 hours) entirely using whole genome sequencing and artificial intelligence.
Ernest Lam, PhD, currently works as Senior Manager, Bioinformatics at Bionano Genomics. He leads bioinformatics development at Bionano, focusing on tools for data pre-processing, assembly and variant calling, and variant annotation. The team most recently worked on a solution for facioscapulohumeral muscular dystrophy (FSHD) that is being adopted in clinical settings. Prior to joining Bionano, he obtained his Ph.D. from the University of California, San Francisco, where he worked with Prof. Pui-Yan Kwok on a number of high-throughput genomics projects.
Matthew Lebo, PhD
Won Sok Lee, MD, MPH is a member of AMP since 2015 and is currently a Molecular Genetic Pathology fellow at Virginia Commonwealth University. He completed a Hematopathology fellowship at the Hospital of University of Pennsylvania and Children's Hospital of Philadelphia in 2020. He completed a residency in Anatomic and Clinical Pathology at Augusta University, GA in 2019 and received his MD and MPH from New Jersey Medical School and School of Public Health, Rutgers University. He envisions a career in molecular hematopathology and is grateful to all his mentors who have led him to the field.
Annette Leon, PhD, MS is a medical geneticist board certified by the American Board of Medical Genetics and Genomics and Head of Clinical Reporting at Color. She completed her fellowship in Clinical Molecular Genetics and Genomics and in Clinical Cytogenetics and Genomics at Harvard Medical School. Previously, she also received her Ph.D. in Biophysics and Computational Biology from the University of Illinois at Urbana and her MS in Biotechnology from Havana University. Dr. Leon is an active contributor to clinical practice guidelines in medical genetics and genomics from professional organizations including ACMG, AMP, and CLSI. Her clinical and regulatory experience encompasses all applications of molecular and cytogenetic technologies in germline, somatic, and cell-free circulating DNA clinical tests. Dr. Leon's current work focuses on improving access and utilization of genomic medicine with an emphasis on population genomics and healthcare.
Mia A. Levy, MD, PhD is the Director of the Cancer Center at Rush University Medical Center and the System Vice President for Cancer Services at Rush System for Health. She is an Associate Professor of Medicine in the Division of Hematology and Oncology and a practicing medical oncologist specializing in the treatment of breast cancer and precision oncology. <br><br>Dr. Levy’s research mission is to develop and disseminate learning cancer systems that deliver data and knowledge driven clinical decision support across the continuum of cancer care and research. To accomplish this, she applies biomedical informatics and implementation science methods to real-world problems in healthcare delivery systems. As the director of the Cancer Center at Rush University Medical Center, Dr. Levy is leading efforts to create a learning healthcare system as part of the strategic direction for continuous discovery and improvement of cancer outcomes embedded into routine clinical practice. Precision cancer medicine implementation continues to be a driving use case for the learning systems framework, combining integration of genomic data into clinical workflows within the electronic health record, knowledge driven clinical decision support systems driven by the My Cancer Genome knowledge base, and infrastructures for secondary use of data for discovery both locally and as part of international data consortium.
Fumin Lin, PhD is a 3rd year Laboratory Genetics and Genomics (LGG) fellow at Childrenâ€™s Hospital of Philadelphia (CHOP), who will graduate in July 2021. Dr. Lin is well trained at directing and interpreting a variety of cytogenetic and molecular diagnostic assays for constitutional genetic disorders and various cancers. With great interests in cancer genetics, he has presented his studies on pediatric leukemia, brain tumor and gene fusion in different national conferences, and received multiple awards such as Charles J. Epstein Trainee Award semifinalist at ASHG 2019, Young Investigator Award at AMP Global 2019 and Technologist Awards at CGC. Dr. Lin has multiple publications during his fellowship, including the one about the development and validation of a cancer fusion gene panel in Journal of Molecular Diagnostics. He received his PhD degree from Duke University and completed his postdoctoral training in NIEHS and Baylor College of Medicine. Before his LGG fellowship, Dr. Lin worked as a clinical genetic scientist at Division of Genomic Diagnostics in CHOP.
Steve Lincoln has been doing bioinformatics, mostly applied to human genetics, since the 1980s. He spent seven years at the Whitehead Institute and the MIT Genome Center (now the Broad Institute) with Eric Lander during the early days of the Human Genome project. He later focused on commercial pursuits, working at Incyte Genomics, Affymetrix and Complete Genomics. He spent most of the past 8 years at Invitae, publishing 18 papers on the validity and utility of clinical NGS. Steve serves on various AMP and CLSI workgroups.
Dennis Lo, FRS is the Li Ka Shing Professor of Medicine of The Chinese University of Hong Kong (CUHK). His research interests focus on the biology and diagnostic applications of cell-free nucleic acids in plasma. In particular, he discovered the presence of cell-free fetal DNA in maternal plasma in 1997 and has since then been pioneering non-invasive prenatal diagnosis using this technology. This technology has been adopted globally and has created a paradigm in prenatal medicine. He has also made many innovations using circulating nucleic acids for cancer detection, including the screening of early stage nasopharyngeal cancer. In recognition of his research, Professor Lo has been elected as Fellow of the Royal Society, Foreign Associate of the US National Academy of Sciences, Fellow of The World Academy of Sciences (TWAS) and Founding Member of the Academy of Sciences of Hong Kong.
Christina Lockwood, PhD is an Associate Professor at the University of Washington where she serves as Director of the Genetics and Solid Tumor Diagnostics Laboratory and Clinical Director of the Northwest Genomics Center. She is a Diplomate of the American Board of Clinical Chemistry and the American Board of Medical Genetics and Genomics. After obtaining her PhD at the University of Wisconsin, Dr. Lockwood completed postdoctoral fellowship training in Clinical Chemistry and Clinical Molecular Genetics at the Washington University School of Medicine in St. Louis, MO. Her interests include the development and application of molecular methods for the detection of genomic alterations in prenatal genetics, genetic disease, hematologic malignancies, and solid tumors. Dr. Lockwood has also been active in the design and implementation of educational resources related to training in genomic medicine. She is currently involved in several research studies, including several cell-free DNA grants, the Seattle Flu Study, and the NIH AllofUs program.
James Lu, MD, PhD is a co-founder and Chief Science Officer at Helix. Helix’s mission is to empower every person to improve their life through DNA. Helix is accelerating the integration of genomic data into clinical care and broadening the impact of large-scale population health programs by providing comprehensive expertise in DNA sequencing, bioinformatics, and individual engagement. Powered by our proprietary Exome+® assay—a panel-grade exome enhanced by more than 300,000 informative non-coding regions—Helix offers health systems a scalable solution which enables the discovery of medically relevant, potentially life-saving, genetic information. Additionally, Helix offers a suite of DNA-powered products for continued individual engagement and discovery. At Helix, James has responsibility for the scientific teams which includes bioinformatics, laboratory operations, regulatory, quality, translational research and policy teams. Prior to Helix, James was a faculty member at Duke University where he focused on translational genomics and machine learning methodologies for electronic medical records. James has also explored a broad range of research topics in population genetics, Mendelian genomics, and computational psychiatry and has published dozens of papers in journals such as Nature, the New England Journal of Medicine and the Journal of Machine Learning Research. Earlier in his career, James was a Lean Six Sigma Black Belt at Merck Pharmaceuticals, a global biopharma company, and an Associate at Devon Park Bioventures, a Philadelphia based healthcare venture capital firm. James holds an M.D. and Ph.D. from Baylor College of Medicine, where he was a member of the Alpha Omega Alpha Honor Society. He also received a B.S. and M.S. in Chemical Engineering from Stanford University.
Elaine Lyon, PhD, is a faculty investigator at HudsonAlpha Institute for Biotechnology and the director of the Clinical Services Lab at HudsonAlpha which performs clinical genome sequencing, targeted genomic health screening and related services. Previously she was a professor at the University of Utah in the Department of Pathology and where she served as medical director for molecular genetics and genomics at the Associated Regional and University Pathologists (ARUP) Laboratories, and helped establish several molecular genetics laboratory sections. Dr. Lyon received her PhD in Medical Genetics from the University of Alabama at Birmingham (UAB), and is certified in Clinical Molecular Genetics by the American Board of Medical Genetics and Genomics. Dr. Lyon is a member of the board of the American College of Medical Genetics and Genomics and serves as the Vice President of Lab Genetics. She has served as president of the Association for Molecular Pathology (AMP) and as chair of AMP's Clinical Practice, Strategic Planning and Professional Relations Committees.
Diana Mandelker, MD, PhD is an assistant attending pathologist on the molecular diagnostics service at Memorial Sloan Kettering Cancer Center (MSKCC) where she specializes in germline genetic analysis. She is also the associate director of the molecular genetic pathology training program at MSKCC. Dr. Mandelker received her BS and MS degrees from Yale University in Molecular Biophysics and Biochemistry. She then completed her MD and PhD degrees at the Johns Hopkins School of Medicine, followed by a clinical pathology residency at Brigham and Women’s Hospital and pathology informatics and molecular genetic pathology fellowships at Harvard Medical School.
Elizabeth Marlowe, PhD is currently the Scientific Director and Head of R&D West for Quest Diagnostics Infectious Diseases. She received her Ph.D. from the University of Arizona in 1999 and completed a Clinical/Public Health Microbiology Postdoctoral Fellowship in 2001 at the UCLA David Geffen School of Medicine. After her fellowship, she continued as an Adjunct Professor and Research Coordinator at the Wadsworth Anaerobe Laboratory where her research focused on the microbiome of the autistic gut and the role of toxin producing anaerobes. In 2002, Dr. Marlowe joined Gen-Probe with her primary research in the development of rapid molecular diagnostics for infectious diseases. Her team conducted some of the initial prototype assay feasibility work on the Panther Fusion System. From 2005 – 2016 she provided laboratory leadership within the Kaiser Permanente Regional Laboratories in both Southern California, as the Assistant Director, and Northern California, as Director of Microbiology. She also provided oversight for the translational research program that included participation in > 10 clinical trials. From 2016-2019, she held the position of Global Director of Medical Affairs at Roche Molecular Systems where she supported several product launches including the cobas CT/NG, TV/MG, MTB, MAI & RIF/INH assays. She is a diplomat of the American Board of Medical Microbiology, past-president for So Cal ASM, past editor for the Clinical Microbiology Newsletter and an inaugural member to the Council on Microbial Sciences for ASM. She has served as a member of CLIAC, the federal advisory committee for CLIA. Her research areas of interest are focused on the translation of new infectious disease diagnostics for use in evidence-based research for clinical microbiology practice.
Raquel Martinez, PhD, D(ABMM), MBA is the System and Core Laboratory Director of Clinical and Molecular Microbiology at Geisinger Health System in Danville, Pennsylvania. She completed her PhD in Microbiology and Immunology, studying the bacterial pathogenesis of Vibrio cholerae at Dartmouth College. Dr. Martinez completed a clinical postdoctoral fellowship in Medical and Public Health Laboratory Microbiology at the University of Washington in Seattle. She is a Diplomate of the American Board of Medical Microbiology. Dr. Martinez’s research interests focus on infectious disease diagnostics, specifically rapid molecular technologies for the detection of bloodstream and respiratory virus infections, and antimicrobial resistance, with the overall goal to improve patient outcomes.
Marilena Melas, MSc, PhD, earned her doctoral degree in Cancer Biology and Genomics at the University of Southern California Keck School of Medicine in Los Angeles in May 2019. Currently, she is a second year ABMGG Clinical Laboratory Genetics and Genomics (LGG) Fellow at the Steve and Cindy Rasmussen Institute for Genomic Medicine, at Nationwide Childrenâ€™s Hospital in Columbus, Ohio. She is interested in the implementation of Next Generation Sequencing (NGS) technology in Precision Medicine. She has a passion for Medical Genetics and Cancer Genomics working to excel in best practices for clinical genetic testing. In December 2019 she got selected as a TEDx Columbus Women speaker for the event Bold and Brilliant, where she shared the idea of Personalized Medicine and how our genome can improve our healthcare. Since May 2020, she serves as a Junior Member of the Cancer Genomics Consortium Communications Committee. She is also an ambassador representing Columbus, for the 2020 ResearcHERs: Women Fighting Cancer campaign launched by the American Cancer Society. Upon completion of her fellowship in 2021, her career goal is to become a Clinical Laboratory Director focusing on Molecular Diagnostics and the translation of genomic discoveries into clinical and therapeutic applications in the field of Personalized Genomic Medicine helping patients and their families
Steve Miller, MD, PhD is director of the clinical microbiology laboratory at the University of California San Francisco in the department of Laboratory Medicine. He trained at the Albert Einstein College of Medicine and is interested in the use of molecular methods for diagnosis and monitoring of clinical infectious disease, particularly in immunocompromised and transplant patients. He oversees the development and validation of unbiased metagenomic sequencing for pan-pathogen detection in the clinical laboratory, enabling a precision medicine approach for infectious disease.
Stephanie Mitchell, PhD is the Medical Director of the Clinical Microbiology Laboratory at UPMC Children’s Hospital of Pittsburgh, Assistant Medical Director of the Clinical Microbiology Laboratory at UPMC Presbyterian and Assistant Professor of Pathology, School of Medicine and Infectious Disease and Microbiology, Graduate School of Public Health at University of Pittsburgh. Dr. Mitchell is also a Diplomate of the American Boards of Medical Microbiology. The laboratories under Dr. Mitchell’s direction are full-service, covering bacteriology, virology, parasitology and mycology, and serve adult and pediatric patients, including large transplant and cancer treatment centers. She received her doctorate in Molecular Microbiology from Tufts University. Following her graduate training, she completed a post-doctoral fellowship-training program in Medical and Public Health Microbiology at the University of Pennsylvania. Dr. Mitchell is interested in the performance and implementation of novel molecular diagnostics, including next generation sequencing, and antimicrobial susceptibility testing in the clinical laboratory, in addition to the clinical utility of new molecular assays and their impact on patient care. Dr. Mitchell’s current research is in the development of diagnostic assays using next generation sequencing, novel antimicrobial susceptibility testing and molecular diagnostic outcomes studies.
William Muller, MD, PhD, primary clinical interest is in infections in immunocompromised patients, generally stem cell and solid organ transplant recipients. He is site PI for numerous clinical trials involving anti-infectives, in both the immunocompromised population and in other pediatric infections. He has also worked on pathogenesis of viral diseases in pediatrics focusing on host-pathogen interactions, including models of neurologic disease due to herpes simplex virus in newborns. Lastly, he has been the Program Director for the Pediatric Infectious Diseases Fellowship Program since 2013.
Kimberlee Musser, PhD is the Clinical Director for the NYSDOH Wadsworth Center’s David Axelrod Institute and the Chief of Bacterial Disease overseeing the Bacteriology and Mycobacteriology testing programs. She has overseen bacterial public health reference testing, surveillance and outbreak investigations for more than 20 years. Dr. Musser received a BA in Biology from Clark University followed by a PhD in Biomedical Science from Albany Medical College and a Centers for Disease Control (CDC) Emerging Infectious Diseases postdoctoral fellowship hosted at the Wadsworth Center. <br>Dr. Musser is an author on >70 manuscripts, 4 book chapters, and has given numerous invited seminars at local, national and international meetings. She has also mentored > 30 students and training fellows. Her laboratory has developed and validated dozens of laboratory-developed tests including real-time PCR assays, MALDI-TOF Mass Spectrometry, pyrosequencing and most recently whole-genome sequencing.
Dale Muzzey, PhD, received both his bachelor of arts and Ph.D. from Harvard University in biochemistry and biophysics, respectively. As a Damon Runyon Cancer Research Foundation postdoctoral fellow at UCSF, he performed NGS research involving genome assembly, haplotype phasing, and gene-expression analysis. He was a Staff Scientist in Computational Biology at Counsyl prior to its acquisition by Myriad Genetics, where he is now Vice President of Bioinformatics. In addition to leading assay development for Myriad's expanded carrier screen and noninvasive prenatal screen, in the last two years Dr. Muzzey has authored more than a dozen peer-reviewed publications about these genetic tests.
Rakesh Nagarajan, MD, PhD is a founder and the Executive Chairman of the Board at PierianDx. He is trained as a physician-scientist with deep experience in molecular biology, molecular laboratory workflows and techniques. His multiple informatics subspecialties include bioinformatics, biospecimen informatics, clinical trials informatics, and medical informatics. He currently serves on the College of American Pathologists (CAP) Molecular Oncology Committee and the Next-Generation Sequencing (NGS) Project Team and is a molecular pathology specialty inspector for the CAP. He is also an Adjunct Associate Professor at the Washington University School of Medicine Department of Pathology & Immunology. Dr. Nagarajan was formerly an Associate Professor at the Washington University School of Medicine (WUSM) Department of Pathology & Immunology and Genetics and directed the Alvin J. Siteman Cancer Center Bioinformatics Core and the Washington University Clinical and Translational Science Award (CTSA) Biomedical Informatics Program. From 2003-2015, Dr. Nagarajan and his group developed and supported broad biomedical informatics infrastructure to facilitate clinical and translational research and to support clinical genomic testing. With more than 50 peer-reviewed publications, his laboratory collaborated on numerous clinical and genomic projects by leading in silico analyses of diverse complex disease data sets.
Susanne (Susie) Norris Zanto, MPH currently works as a laboratory consultant with Laboratory SolutionZ after retiring from the Montana Public Health Laboratory, where she worked in management and technical positions for over 30 years. She is the current Chair of the Coordinating Council for the Clinical Laboratory Workforce (CCCLW), was part of the focus group that revitalized the LaboratoryScienceCareers website, and chaired the American Society for Clinical Laboratory Science Workforce Shortage Position Paper task force. Susie also is an instructor in the Montana Medical Laboratory Science program, helping to educate our future medical laboratory scientists.
Debra Palazzi, MD, MEd is Professor of Pediatrics at Baylor College of Medicine in Houston, TX. She received her medical degree from the University of North Carolina School of Medicine. She completed her pediatric residency at Carolinas Medical Center and her pediatric infectious diseases fellowship at Baylor College of Medicine in Houston, TX. She is the Medical Director of the Antimicrobial Stewardship Program at Texas Children's Hospital and participates in national antimicrobial stewardship educational and research activities including the Pediatric Infectious Diseases Society's (PIDS) Pediatric Committee on Antimicrobial Stewardship and the Sharing Reports for Pediatric Stewardship (SHARPS) Collaborative. Dr. Palazzi has a strong interest in medical education. She is Program Director of the Pediatric Infectious Diseases Fellowship Program at Baylor College of Medicine. She received a Master of Education in teaching with an emphasis in the health sciences through the University of Houston. She chairs the PIDS Education Committee and is Deputy Editor of the American Academy of Pediatrics Pediatric Review and Education Program (PREP) for Infectious Diseases and Co-Chair of the PREP ID Course Planning Committee. Dr. Palazzi is Associate Editor of JAMA Pediatrics and the Journal of the Pediatric Infectious Diseases Society.
Sharon Plon, MD, PhD is a board-certified medical geneticist and a longstanding cancer genetics researcher including the discovery of new cancer susceptibility genes and the implementation of genomic testing in medicine. Dr. Plon is a Professor at Baylor College of Medicine in the Departments of Pediatrics/Hematology-Oncology, Molecular and Human Genetics and Human Genome Sequencing Center. Drs. Plon and D. William Parsons were principal investigators of the NHGRI/NCI-funded BASIC3 clinical trial on the incorporation of exome sequencing into the care of newly diagnosed childhood cancer patients and this study is now being expanded into diverse patient populations across Texas (KidsCanSeq trial). Since 2013, Dr. Plon has served as one of the Principal Investigators of the Clinical Genome (ClinGen) Resource and chairs the ClinGen hereditary cancer effort. ClinGen is an international effort with over 1400 investigators from 35 different countries. Dr. Plon currently co-chairs the germline reporting effort of the national NCI/COG Pediatric MATCH Precision Oncology trial. Dr. Plon is also working closely with Dr. Philip Lupo on a population-based study to understand the association between birth defects and cancer risk in children. Dr. Plon is a member of the NIH Human Genome Research Advisory Council.
Kelly Rafferty, PhD, MS is a Laboratory Genetics and Genomics fellow at Virginia Commonwealth University. She is also a board-certified genetic counselor with experience in the laboratory setting. Prior to beginning her fellowship training, she worked in the Division of Genomic Diagnostics at the Children's Hospital of Philadelphia as a clinical genomic scientist. She received her PhD in Human and Molecular Genetics and MS in Genetic Counseling from Virginia Commonwealth University.
Pedram Razavi, MD, PhD
Scott Rodig, MD, PhD, is a practicing hematopathologist and molecular pathologist at Brigham & Women's Hospital, Director of the Tissue Biomarker Laboratory of the Center for Immuno-Oncology at the Dana-Farber Cancer Institute, and Professor of Pathology at Harvard Medical School. Dr. Rodig received his MD and PhD (Immunology) at Washington University in St. Louis in 1998. He completed his residency and post-graduate training at Brigham & Women's Hospital and joined the faculty in 2003. Dr. Rodig's investigational efforts involve the development of novel diagnostic assays to capture the activity of essential oncogenic signaling pathways in human cancer using primary tissue samples. Most recently, these efforts have focused on defining immune responses within the tumor microenvironment to better guide immunotherapy. In 2018, Dr. Rodig initiated ImmunoProfile, a CLIA-certified multiplex staining and image analysis assay to quantify PD-1 and PD-L1 expression in clinical samples for patients seen at the Dana-Farber Cancer Institute.
Somak Roy, MD, is an Associate Professor of Pathology at the Cincinnati Children's Hospital Medical Center (CCHMC). He serves as the Director of Molecular Pathology in the Division of Pathology at CCHMC. Dr. Roy is a board-certified molecular and anatomic pathologist. In his prior role he served as the Director of Molecular Informatics, Genetics Services, and MGP fellowship program at the University of Pittsburgh Medical Center (UPMC). His clinical and translational work focuses on the following; 1) Use of modern computational infrastructure and innovative software technology for high-throughput sequence analysis, genomic data visualization, and optimizing molecular laboratory workflow. 2) Development of clinical molecular tests for cancer genomics using high throughput sequencing technologies with emphasis on brain tumors. Since 2014, he has been a member of Informatics Subdivision in the Association of Molecular Pathology (AMP). He served as a representative to the Clinical Practice and Program Committees and is currently the Chair of the Informatics Subdivision at AMP. Dr. Roy has been and is currently involved in several national working groups related to molecular diagnostics, informatics, and bioinformatics. Dr. Roy completed his medical school training at Seth G.S Medical College, Mumbai followed by pathology residency training at Maulana Azad Medical College, New Delhi. Upon arrival to the United States, he completed anatomic pathology residency from the University of Pittsburgh Medical Center and fellowships in Molecular and Genitourinary Pathology from the same institution.
Sinchita Roy-Chowdhuri, MD, PhD is an Associate Professor at The University of Texas MD Anderson Cancer Center (MDACC) in Houston, TX, specializing in cytopathology and molecular pathology. She is currently the Medical Director of the Molecular diagnostic Laboratory (Solid Tumors) and the Director of Molecular Cytopathology at MDACC. Her interests include pulmonary cytopathology, molecular diagnostics in solid tumors, and the application of ancillary studies and molecular diagnostics in cytopathology. Dr. Roy-Chowdhuri has presented several educational courses at national and international meetings and published numerous research articles, reviews, and books in the field of cytopathology and molecular pathology. She serves as the Associate Editor for Cancer Cytopathology and the Archives of Pathology & Laboratory Medicine. She is a committee member in several national societies and is the Chair on the CAP guideline committee for the collection and handling of thoracic specimens for molecular testing. Dr. Roy-Chowdhuri serves as a mentor to pathology trainees and can be frequently seen participating in pathology education on social media. You can follow Dr. Roy-Chowdhuri on her Facebook page, @SinchitaRoyMDPhD and on Twitter @Sinchita_Roy
Orit Rozenblatt-Rosen, PhD is the senior director of single cell genomics at the Broad Institute of MIT and Harvard, where she is also scientific director of the Klarman Cell Observatory. In this role, she works on the scientific planning, organization, and execution of the Klarman Cell Observatory projects, collaborations, and activities. The Klarman Cell Observatory aims to systematically chart cellular circuits in mammalian cells and tissues. The Observatory builds on cutting-edge experimental and computational technologies as well as collaborations that span diverse scientific disciplines. Rozenblatt-Rosen is also the lead scientist at the Broad for the international Human Cell Atlas Initiative. The Human Cell Atlas aims to create comprehensive reference maps of all human cells as a basis for both understanding human health and treating disease. Rozenblatt-Rosen, who joined the Klarman Cell Observatory in 2012, is also an institute scientist at the Broad and has a background in cancer research, epigenetics, systems biology, genomics, and single-cell genomics. Rozenblatt-Rosen helped develop and implement systematic pipelines for genomic profiling and analysis of single cells from freshly dissected tumors. In 2016 Rozenblatt-Rosen received the Broad Excellence Award in Science. As a research scientist at the Dana-Farber Cancer Institute, Rozenblatt-Rosen led a team of experimental and computational biologists. Her team performed systematic analyses of host network perturbations induced by DNA tumor viruses to help interpret cancer genomes. Previously, Rozenblatt-Rosen was a postdoctoral fellow and instructor in the laboratory of Broad institute member Matthew Meyerson at the Dana-Farber Cancer Institute. In the Meyerson laboratory, her work focused on understanding the links between tumor suppression and epigenetic mechanisms. Rozenblatt-Rosen earned a B.S. in biology from Tel Aviv University and a Ph.D. from the Weizmann Institute of Science.
Andrea Sboner, PhD, is the Director of Informatics and Computational Biology at the Englander Institute of Precision Medicine and Co-Director of the Division of Computational Pathology of the Department of Pathology and Laboratory Medicine at Weill Cornell Medicine in New York City. His research interests are in translational medicine with a focus on precision medicine for improving patient care. From the clinical viewpoint, he supervises the design and implementation of the informatics infrastructure in the Clinical Genomics Laboratory at Weill Cornell Medicine as well as the computational pipeline for the lab NGS testing. The Clinical Genomics Laboratory was the first lab to offer a CLIA-approved whole exome sequencing test to patients with advanced cancer. From the research perspective, he focuses the application of new precision medicine technologies for discovery and education, including processing and analysis of NGS assays such as RNA-seq, WGS, as well as applications of virtual and augmented reality, machine learning, and mobile applications to collect patient-reported information.
Ryan Schmidt, MD, PhD is an Assistant Professor of Clinical Pathology, Keck School of Medicine of the University of Southern California, and Assistant Director of the Clinical Genomics Laboratory in the Center for Personalized Medicine in the Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles. Dr. Schmidt received his PhD in Neuroscience from the University of California, Los Angeles, and his MD from UCLA David Geffen School of Medicine. Dr. Schmidt completed a Molecular Genetic Pathology fellowship at Harvard Medical School and a Clinical Pathology residency at Brigham and Women's Hospital. He is focused on advancing patient care through the development, implementation, and interpretation of molecular diagnostic tests. His clinical interests include clinical bioinformatics, constitutional genetics, and molecular oncology.
John Schmitz, PhD is Professor of Pathology & Laboratory Medicine and Microbiology/Immunology in the School of Medicine at the University of North Carolina at Chapel Hill. He directs the Immunology, Histocompatibility and Immunogenetics Laboratories at UNC Health. He is the Program Director for the Medical Laboratory Immunology Felllowship training program at UNC Hospitals and Associate Director of the HIV/STD Laboratory Core for the UNC Center for AIDS Research. Dr. Schmitz is the Past President of the American Society for Histocompatibility and Immunogenetics and is currently Co-Chair of their Accreditation Review Board.
Ilan Schwartz, MD, PhD is an infectious diseases physician and a researcher with an interest in invasive fungal infections. His expertise is in emerging fungal disease and immunocompromised hosts. After completing his clinical training at Queen's University and the University of Manitoba, Dr. Schwartz obtained a Doctorate in Medical Sciences from the University of Antwerp for his investigations into a novel dimorphic fungal genus, Emergomyces. He has since described or co-described several novel, phenotypically distinct pathogenic species within Blastomyces. Dr. Schwartz is a Fellow of the European Confederation of Medical Mycology, and Education Co-Chair for the Mycoses Study Group Education & Research Consortium (MSGERC).
Jay Shendure, MD, PhD is an Investigator of the Howard Hughes Medical Institute, Professor of Genome Sciences at the University of Washington, Director of the Allen Discovery Center for Cell Lineage Tracing, and Scientific Director of the Brotman Baty Institute for Precision Medicine. His 2005 doctoral thesis with George Church included one of the first successful reductions to practice of next generation DNA sequencing. Dr. Shendure's research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders and autism; cell-free DNA diagnostics for cancer and reproductive medicine; massively parallel reporter assays, saturation genome editing; whole organism lineage tracing, and massively parallel molecular profiling of single cells. Dr. Shendure is the recipient of the 2012 Curt Stern Award from the American Society of Human Genetics, the 2013 FEDERAprijs, a 2013 NIH Director's Pioneer Award, the 2014 HudsonAlpha Life Sciences Prize, the 2018 Richard and Carol Hertzberg Prize for Technology Innovation, and the 2019 Richard Lounsbery Award from the National Academy of Sciences. He serves or has served as an advisor to the NIH Director, the US Precision Medicine Initiative, the National Human Genome Research Institute, the Chan-Zuckerberg Initiative and the Allen Institutes for Cell Science and Immunology. He received his MD and PhD degrees from Harvard Medical School in 2007.
Andrew Skol, PhD is a Bioinformatic Scientist and Statistical Geneticist at Lurie Children’s Hospital of Chicago. In this capacity, he is involved in designing computational tools to increase validation efficiency, advance bioinformatic pipeline evolution and improve quality control, and is helping to create a research environment to utilize whole genome sequencing to investigate pediatric diseases. Prior to joining Lurie, Andrew developed extensive experience in the design and execution of large genomic studies of complex disease. These include genome-wide association studies in cancer (AML, ALL) and non-cancer (diabetes, IBD), expression quantitative trait loci in cancer, sequencing studies of cancer predisposition and IBD, and pharmacogenomics. Andrew earned a PhD in Biostatistics at The University of Michigan where he focused on study design optimization for large genomic studies.
Lea Starita, PhD
Koichi Takahashi, MD, PhD is an Assistant Professor of Department of Leukemia and Genomic Medicine MD Anderson Cancer Center. He is a physician scientist specializing on genomics of hematologic malignancies particularly in acute myeloid leukemia (AML), myelodysplastic syndromes (MDS) and clonal hematopoiesis. His research focuses on precision characterization of clonal heterogeneity and evolution of leukemia and their clinical implications.
Collin Tokheim, PhD earned his doctoral degree from Johns Hopkins University in the lab of Dr. Rachel Karchin. Currently, he is a research fellow at Dana-Farber Cancer Institute and the Harvard TH Chan School of Public Health. Dr. Tokheim develops computational models to interpret somatic mutations and leverages functional assays to identify degradable proteins that are linked to the development of human cancers. He is the recipient of a Ruth L. Kirschstein NRSA fellowship, a Martin and Carol Macht Research Award, and a Damon Runyon Quantitative Biology fellowship. His research interests include precise variant interpretation, protein degradation, cancer genomics and machine learning.
Diana Toledo, PhD, MS, CGC is currently in her second year as a Clinical Postdoctoral Fellow in the Dartmouth-Hitchcock Medical Center Molecular Pathology Laboratory (Laboratory for Clinical Genomics and Advanced Technologies/CGAT) with a demonstrated history of working in clinical genetic testing and translational research labs. She received a Masters in Science in Genetic Counseling from Boston University and has been a board-certified genetic counselor since 2011. Toledo has experience working in prenatal, pediatric, and adult genetics clinical settings, and in academic genetic testing lab (Laboratory for Molecular Medicine) and a research project with Boston University’s School of Public Health. She also received a PhD in Genetics from Dartmouth College in a lab focused on transcriptomics, RNA-sequencing, methylomics, single cell sequencing, and bioinformatics in the context of a rare autoimmune disease (systemic sclerosis). During her current fellowship, Toledo is validating new clinical assays, reviewing variants/clinical cases for their somatic solid tumor sequencing panel test, and part of several research projects, including a regional SARS-CoV-2 wastewater surveillance project.
Scott Topper, PhD is VP of Clinical Operations at Color and oversees Color’s NGS and COVID testing laboratories, the Research and Development organization, the Clinical Genomics teams (variant scientists and medical geneticists), the Genetic Counseling / Pharmacist Services teams and the Client Services. He is an American Board of Medical Genetics and Genomics-certified molecular geneticist, trained at the University of Chicago. He serves on the ClinGen Sequence Variant Interpretation working group and the American College of Medical Genetics Social Ethical and Legal Issues committee. He is also a Principal Investigator on two awards supporting the All of Us Research Program: The Broad-Color-LMM Genome Center Award and the All of Us Research Program Genetic Counseling Resource.
Elias I. Traboulsi, M.D., M.Ed.
Anthony (Tony) Tran, DrPH, MPH, D(ABMM), MT(ASCP) received his BS in Medical Technology from the University of Maryland at Baltimore, School of Medicine in 1998, his MPH from the University of Maryland, College Park in 2001, and his DrPH from the University of California, Berkeley in 2013. He completed his ASM CPEP fellowship in medical and public health microbiology from the University of North Carolina, Chapel Hill Health Care System in 2015 and is a Diplomate of the American Board of Medical Microbiology. He has over 15 years of public health and clinical laboratory experience at national, state, and local levels. During the seven years prior to pursing his doctorate, Tony worked at the Association of Public Health Laboratories (APHL), a national nonprofit organization that represents state, territorial and local public health laboratories in the United States. During his seven years at APHL, he led the Association’s efforts on domestic HIV, STD, TB and viral Hepatitis and served on the global health team that works closely with ministries of health all over the world to develop core laboratory infrastructure and build capacity for tests of public health significance. Previously, as Director of Policy and Operations at the New York City Department of Health and Mental Hygiene, Bureau of the Public Health Laboratory, Tony provided guidance and overall direction to all areas of the laboratory including scientific oversight of programs, quality assurance, and laboratory operations. He currently serves as the Director of the District of Columbia Public Health Laboratory, which provides diagnostic testing services for health care providers in the District and surveillance and environmental testing for the DC Department of Health. He is currently leading the District’s testing efforts for COVID-19, in addition to multiple national COVID-19 task forces and also serves on the APHL Board of Directors.
Jonathan Tsai, MD, PhD, is a clinical fellow at the Harvard-wide molecular genetic pathology fellowship at the Brigham and Women's Hospital. Following the completion of his MD and PhD from Stanford University, he began residency training in clinical pathology at Brigham and Women's Hospital and is also currently a postdoctoral fellow at the Dana Farber Cancer Institute. His clinical and research interests involve the use of targeted protein degradation to inhibit transcription factors relevant in malignancy. Following his molecular genetic pathology fellowship, he will complete his training in clinical pathology and continue his postdoctoral research.
Peter Van Loo, PhD is a group leader at the Francis Crick Institute in London. In his postdoctoral research at the University of Oslo, the University of Leuven, and the Wellcome Trust Sanger Institute, he developed computational techniques to study copy-number alterations in cancer genomes, and approaches to study the subclonal architecture and life history of tumours from whole-genome sequencing data, a field coined “molecular archaeology of cancer”. Peter’s research leverages massively parallel sequencing efforts to study cancer genes, mutational processes in cancer and tumour evolution. His work has sketched the typical evolutionary trajectories of many cancer types, allowing insight into the timelines of cancer development, as well as insight into how tumours metastasise. Peter is the main lead of Evolution and Heterogeneity working group of the Pan-Cancer Analysis of Whole Genomics (PCAWG) initiative, and the genomics lead of the Sarcoma GeCIP of the 100,000 Genomes Project. Peter has been awarded a Cancer Research UK Future Leaders in Cancer Research Prize in 2015 and a VIB Alumni Award in 2017.
Priya Velu, MD, PhD is an assistant professor in the Department of Pathology and Laboratory Medicine and assistant director of the Molecular Pathology Laboratory at New York Presbyterian-Weill Cornell Medicine. She received her doctorate and medical degree from University of California San Diego and completed her Clinical Pathology residency training and Molecular and Genomic Pathology Fellowship at the University of Pennsylvania. Her clinical interests include cancer genomics, infectious disease molecular testing, and machine learning applications in digital imaging.
Lu Wang, MD, PhD is an Associate Member and the Medical Director of Cytogenetics in the Department of Pathology at St. Jude Childrenâ€™s Research Hospital (SJCRH). Dr. Wang is a board-certified clinical molecular geneticist. She received her MD and PhD degrees from Shandong University School of Medicine and Shanghai Jiao Tong University School of Medicine in China and completed her post-graduate training at Weill Medical College of Cornell University and Memorial Sloan Kettering Cancer Center (MSKCC) in New York City. Dr. Wang had been a faculty member in the Department of Pathology at MSKCC from 2010 to 2017 and joined the faculty at SJCRH in 2017. Her clinical research is focused on molecular profiling of rare tumors with an emphasis on clinical translation of potential diagnostic markers and therapeutic targets and clinical tests development. Her research lab has focused recently on functional characterization of oncogenic gene fusions.
Xiaotian Wang, PhD, is a senior R&D Manager from Burning Rock Dx, a Chinese molecular diagnostics firm. She is responsible for establishing automatic process of NGS cancer detection. Her team has developed several automatic platforms for different application scenarios based on . The stability and efficiency of these platforms have been proven by a large amount of clinical data. She recieved her Doctor's degree in genetic at Fudan University, China.
William Webster, DO is currently a second year internal medicine resident physician at University of South Carolina School of Medicine-Prisma Health, with plans to pursue fellowship training in infectious diseases. He received his Bachelor of Science degree in microbiology from University of Georgia in 2013 and received his medical degree from Edward Via College of Osteopathic Medicine in 2019. Prior to medical school, Webster worked in a PulseNet Laboratory through the Centers for Disease Control and Prevention, working to identify clusters of disease that may identify unrecognized foodborne outbreaks, with emphasis on Salmonella. He was later employed by the Genetics Department at University of Georgia in efforts to study gene regulation in plant biomass models. His current research involves inflammatory regulation in COVID-19 infection in ICU patients, metagenomic next-generation sequencing in pathogen identification in infected hosts, and the effect of HIV pre-exposure prophylaxis implementation in the primary care setting.
Jinghui Zhang, PhD, is chair of the Department of Computational Biology at St. Jude Children’s Research Hospital. She holds the St. Jude Endowed Chair in Bioinformatics. Computational biology efforts at St. Jude took shape five years ago with the creation of the St. Jude–Washington University Pediatric Cancer Genome Project (PCGP), an unprecedented effort to map the genomes of some of the deadliest childhood cancers. Data generated from the project—100 trillion-plus pieces—encompass the complete normal and cancer genomes of more than 800 children and adolescents with 23 different childhood cancer. Zhang joined St. Jude in 2010, leading the effort to analyze PCGP data and the creation of several new computational tools that have been adopted by researchers worldwide. Her work has helped define the landscape of mutations, leading to new directions in research involving high-risk leukemia, brain and solid tumors. Prior to working at St. Jude, Zhang led genetic variation analysis of the first assembled human genome. She also contributed to key discoveries in the pilot phases of the National Cancer Institute’s Cancer Genome Atlas Project and the Therapeutically Applicable Research to Generate Effective Treatment (TARGET) initiative. Zhang received her undergraduate degree from Fu Dan University in Shanghai and her doctorate from the University of Connecticut in Storrs, Conn.
Lei Zhang, PhD, is a postdoctoral fellow in the Department of Laboratory Medicine and Pathology at the University of Alberta. His current research project is focused on the evaluation and application of new molecular biology testing methods for the personalized treatment of non-small cell lung cancer. By using emerging molecular biology detection technologies, he specializes in the establishment of novel laboratory-developed tests for rapid and accurate diagnostic of diseases. He is certified as a Registered Microbiologist of the Canadian College of Microbiologists. With his education background in microbiology and research experience in the targeted therapy of lung cancer, his research interest is to develop microbiome-based approaches for early diagnosis, prognosis and treatment of cancer.
Jessica Ziemba, MD, is a Hematopathology Fellow at Beth Israel Deaconess Medical Center (BIDMC) in Boston, MA. Dr. Ziemba obtained a Bachelor of Science degree in neuroscience from Texas Christian University in Fort Worth, TX, and attended medical school at the University of Texas School of Medicine in San Antonio, TX. She then completed Anatomic and Clinical Pathology residency training at BIDMC and served as Anatomic Pathology Chief Resident before serving as Hematopathology Fellow. Upon graduation, she plans to return home to Texas (and is actively seeking employment in hematopathology)!
Justin Zook, PhD, leads the Human Genomics Team at the National Institute of Standards and Technology and is co-leading the Genome in a Bottle Consortium’s work developing authoritatively characterized human genomes to benchmark sequencing methods. He developed methods to compare and integrate whole genome DNA sequencing data from multiple platforms and sequencing runs to characterize the first whole human genome Reference Material. He is now leading the GIAB Analysis Team work combining short, linked, and long read sequencing technologies to characterize structural variation and challenging regions of the genome. He is an Informatics Representative to the Association for Molecular Pathology Clinical Practice Committee. In addition, he was Chair of the Global Alliance for Genomics and Health Benchmarking Team, which recently published best practices for benchmarking genome sequencing results.