Professor Antoniou currently leads a research team within the Department of Public Health and Primary Care and he is the Academic Course Director for the MPhil in Epidemiology. Professor Antoniou’s main research is the development and application of statistical modelling techniques for addressing clinical questions, and the development of risk prediction tools which are used in clinical practice. He is the principal developer of the risk prediction algorithm "BOADICEA" for breast and ovarian cancer. He has developed novel statistical techniques for modelling disease susceptibility and has applied these methods for the accurate risk characterisation of rare mutations in BRCA1, BRCA2, PALB2 and other cancer susceptibility genes. He established the CIMBA data coordinating centre in 2006 and led the analytical efforts of the consortium since its inception.
Nathalie Bolduc is currently the Director of the Breast Cancer Genetics and Prevention Program at the Quebec Breast Cancer Foundation. She is an experienced genetic counsellor with a unique combination of clinical expertise in the public and private healthcare sectors as well as in research and industry. She worked several years with French Canadian BRCA families and later joined the McGill University Health Centre and worked in several clinical settings including prenatal diagnosis, reproductive technologies, pediatric and adult genetics. She directed the provincial predictive testing program for Huntington disease and collaborated with a First Nations community to develop educational videos for this condition. She was the president of the Quebec Association of Genetic Counsellors from 2007 to 2013. She currently is the Past President II of the Canadian Association of Genetic Counsellors.
Dr. Bombard is a genomics health services researcher and Scientist at the Li Ka Shing Knowledge Institute of St. Michael’s Hospital. She is an Associate Professor at the University of Toronto in the Institute of Health Policy Management and Evaluation. Her research focuses on evaluating the adoption of new genomic technologies in clinical practice. She develops patient-facing digital tools for precision medicine and evaluates their comparative effectiveness to inform clinical translation.
Dr. Bombard is active in numerous international policy advisory committees; her research informs policy development in this area. In 2014, Dr. Bombard was the inaugural recipient of the Maurice McGregor Award for Demonstrated Excellence and Leadership Potential from the Canadian Agency for Drugs and Technologies in Health (CADTH) and also received a ‘Rising Star’ award from CIHR’s Institute of Health Services and Policy Research in 2011. She has been awarded a CIHR Foundation grant as an Early Career Investigator, and a CIHR New Investigator Award.
Dr. Bombard holds Fellowships from: Yale University (in Health Policy), Memorial Sloan-Kettering Cancer Center (in Cancer Genomics) and the University of Toronto (in Health Services Research).
Dr. Lawrence Brody is a Senior Investigator in the National Human Genome Research Institute (NHGRI) at the NIH. He studied biology with an emphasis on genetics as an undergraduate at Penn State University. He received his PhD in Human Genetics from Johns Hopkins University in 1991. He then held postdoctoral appointments at Johns Hopkins School of Medicine and the University of Michigan. He joined the faculty of NHGRI in 1993. From 2010 to 2014 he served as the Chief of NHGRI’s Genome Technology Branch. In 2013 he was named Director of the Division or Genomics and Society one of NHGRI three extramural divisions. Dr. Brody also serves as the Chief Scientific Officer for NIH’s Center for Inherited Disease Research, a high throughput genotyping and sequencing center that serves 10 of NIH’s 27 institutes.
Dr. Brody’s lab investigates the genetics of cancer, metabolism, birth defects and the use application of genetics to clinical care. As head of the Genetics and Environment Interaction Section, he is interested in using multidisciplinary approaches to understand how inherited variations lead to perturbations in normal metabolic pathways and cause disorders such as cancer and birth defects.
Adam Buchanan is a certified genetic counselor and assistant professor in the Geisinger Health System Genomic Medicine Institute. He received his master’s in public health, with a focus in health behavior and health education, at the University of North Carolina in Chapel Hill, and master’s in science in genetic counseling at the University of North Carolina in Greensboro.
His research focuses on assessing the effectiveness of alternate service delivery models for improving access to genomic services, clinical outcomes of genetic counseling, and clinical utility of genomic screening in unselected populations.
Dr. Elena Castro is a medical oncologist and physician scientist specialized in the treatment of patients with prostate cancer. After completing her training in Medical Oncology in Spain, she spent four years as clinical research fellow at the Royal Marsden Hospital training in cancer genetics. Her research has focused on understanding the implications of inherited genetic variants in the outcomes of prostate cancer and the molecular characterization of those tumours. Dr. Castro’s clinical practice manages men with prostate cancer the majority of whom are treated in the setting of clinical trials.
Dr. Stephen Chanock is the Director of the NCI Division of Cancer Epidemiology and Genetics (DCEG). He is a leading expert in the discovery and characterization of cancer susceptibility regions in the human genome. He has received numerous awards for his scientific contributions to our understanding of common inherited genetic variants associated with cancer risk and outcomes. Dr. Chanock received his M.D. from Harvard Medical School and completed clinical training in pediatrics, pediatric infectious diseases, and pediatric hematology/oncology and research training in molecular genetics at Boston Children’s Hospital and the Dana-Farber Cancer Institute, Boston. From 2001-2007, he was a tenured investigator in the Genomic Variation Section of the Pediatric Oncology Branch in the NCI Center for Cancer Research. He also served as co-chair of NCI's Genetics, Genomics and Proteomics Faculty for five years. In 2001, he was appointed as Chief of the Cancer Genomics Research Laboratory (formerly Core Genotyping Facility), and in 2007 as Chief of the Laboratory of Translational Genomics, both within DCEG. From 2012 to 2013, he also served as Acting Co-Director of the NCI Center for Cancer Genomics. Dr. Chanock was appointed Director of DCEG in August 2013. Since 1995, Dr. Chanock has served as the Medical Director for Camp Fantastic, a week-long recreational camp for pediatric cancer patients, which is a joint venture of the NCI and Special Love, Inc.
Robert Cook-Deegan is a professor in the School for the Future of Innovation in Society, and with the Consortium for Science, Policy & Outcomes at Arizona State University. He founded and directed Duke’s Center for Genome Ethics, Law & Policy 2002- 2012, and taught in Duke’s in-Washington program through June 2016. Before Duke he worked at the National Academies of Science, Engineering and Medicine 1991-2002; National Center for Human Genome Research (NIH) 1989-1990; and congressional Office of Technology Assessment 1982-1988. He obtained his MD from the University of Colorado in 1979; and a BA in chemistry (magna cum laude) from Harvard in 1975. He is the author of The Gene Wars: Science, Politics, and the Human Genome and over 300 other publications.
Dr. Couch is a Professor and Chair of the Division of Experimental Pathology and Laboratory Medicine at the Mayo Clinic, with a joint appointment in the Department of Health Sciences Research. The research in his laboratory is focused on characterization of genes and variants involved in susceptibility to breast and pancreatic cancer using genetic, genetic epidemiology, and functional approaches.
Dr. Couch is a founder and leader of several national and international consortia in cancer genetics. In particular, he formed the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium that focuses on determining the clinical relevance of inherited variants in the BRCA1, BRCA2, and other cancer predisposition genes. He is a co-founder of the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a Triple Negative Breast Cancer Consortium (TNBCC), and is a long-term member of the Breast Cancer Association Consortium. Working with members of these consortia,
Dr. Couch has led genome-wide association studies to identify common genetic variants that influence risk of estrogen receptor (ER) negative and triple negative breast cancer and modify risks of breast cancer among carriers of germline BRCA1 and BRCA2 mutations. He is also a leader in the Global Alliance for Genomic Health BRCA Challenge and the Prospective Registry of Multiplex Testing (PROMPT) initiatives that are aimed at understanding alterations in cancer predisposition genes. Dr. Couch is also a principal investigator of the Mayo Clinic Breast Cancer Patient Registry (MCBCS), a long term follow up study of all newly diagnosed breast cancer patients attending the Mayo Clinic, and is a member of the Mayo Clinic Breast and Pancreatic SPORE grants.
Dr. Couch has published 450 peer reviewed articles. In 2013 Dr. Couch received the Mayo Clinic Investigator of the Year award, and in 2016 was named the AACR Outstanding Investigator for Breast Cancer Research.
Dr Crum is a Professor of Pathology at Harvard Medical School and Senior Pathologist at Brigham and Women’s Hospital. In 2005 he developed the SEE-FIM dissection protocol, revealing the fimbria as a site of origin for many serous cancers in women with germ-line BRCA mutations. His extended this model to explain serous carcinogenesis in all women, highlighting the tube as both a site of early cancers and a potential launching point for precursor cells that could lead to “primary peritoneal” carcinomas. Dr. Crum recently received the 2019 Innovation Award from the Society of Gynecologic Oncology for his contributions to research in gynecologic cancer.
Steven Harrison, PhD is the Associate Laboratory Director of the Clinical Research Sequencing Platform (CRSP) of the Broad Institute of Harvard and MIT. Steven’s work focuses on variant interpretation approaches and standardization at both a CLIA-certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program.Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which aims to develop general recommendations to the ACMG-AMP variant interpretation guidelines, and the Sequence Variant Inter-Laboratory Discrepancy Resolution Task Team which aims to resolve variants with interpretation differences between clinical laboratories.
Prof Nicoline Hoogerbrugge, MD, PhD, is full professor in hereditary cancer at Radboud University Medical Center, Nijmegen, The Netherlands. Her ambition is to improve detection, diagnosis and treatment of hereditary cancer and prevent cancer in relatives specifically in PHTS. Her team detected that rare mutations in the NTHL1 gene, previously associated with colorectal cancer, also can cause breast cancer. She is the coordinator of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) (www.genturis.eu ).
Dr. Hurley, licensed clinical psychologist at the Cleveland Clinic, has specialized for twenty years in hereditary cancer risk. After completing her A.B. at Bryn Mawr College, Ph.D. at Temple University, and postdoctoral fellowship at the Mount Sinai School of Medicine, she conducted NCI-funded research funded on surgical decision-making at Memorial Sloan-Kettering. She continued in private practice in Manhattan and taught graduate psychology at TC-Columbia University. She frequently presents for national/international audiences and is on the national advisory boards for FORCE, Bright Pink, Sharsheret, and the Cancer Support Community. In 2014, she received FORCE’s Spirit of Empowerment Award for Individual Commitment.
Assoc Prof Paul A James is a Clinical Geneticist from Melbourne. He is the director of the Parkville Familial Cancer Centre (Royal Melbourne Hospital and Peter MacCallum Cancer Centre) and Head of Clinical Genetics in the Department of Genomic Medicine (RMH). He is the group leader in Familial Cancer research at Peter MacCallum and leads a program of research involving familial disorders, supported by the Victoria Cancer Agency, Cancer Australia, Cancer Council NSW, the National Heart Foundation and the NHMRC.
Yann Joly, Ph.D. (DCL), FCAHS, Ad.E. is the Research Director of the Centre of Genomics and Policy (CGP). He is an Associate Professor at the Faculty of Medicine, Department of Human Genetics cross-appointed at the Bioethics Unit, at McGill University. He was named advocatus emeritus by the Quebec Bar in 2012 and Fellow of the Canadian Academy of Health Sciences in 2017.
Prof. Joly’s research interests lie at the interface of the fields of scientific knowledge, health law (biotechnology and other emerging health technologies) and bioethics. He has published his findings in over 120 peer-reviewed articles featured in top legal, ethical and scientific journals.
Dr. Levy-Lahad is Professor of Internal Medicine and Medical Genetics at Hebrew University and Director of the Medical Genetics Institute at Shaare Zedek Medical Center in Jerusalem. Since 1996, she has been Director of the Medical Genetics Institute and senior physician in the Department of Medicine at Shaare Zedek Medical Center.
She holds a faculty appointment as Professor in Medicine and Genetics at the Hebrew University-Hadassah Medical School in Jerusalem. Her clinical laboratory includes cancer genetics diagnostics and a large pre-implantation diagnosis service. Her research laboratory focuses on population genetics of breast and ovarian cancer, in particular the BRCA1 and BRCA2 genes.
She is active in bioethical aspects of genetic research, and is currently co-Chair of the Israel National Bioethics Council. She is a member of Israel's National Council for Women's Health and the National Council for Gyncology, Perinatal Medicine and Genetics. Internationally, she was a member of UNESCO's IBC (International Bioethics Committee) (2006-2009).
Justin Lorentz graduated from McGill’s genetic counselling program and is a certified genetic counsellor. He practices clinically at the Sunnybrook Odette Cancer Centre in Toronto where he is also the lead of the Male Oncology Research and Education (MORE) Program; a registry for men with hereditary cancer. Justin is affiliated with the University of Toronto as an instructor. His current academic interests are in hereditary cancer with a focus on male breast cancer and prostate cancer.
Dr. Madlensky has provided cancer genetic counseling services for over 20 years. She has practiced in the United States and Canada, and was a founding member of the Familial Cancer Risk group of the National Society of Genetic Counselors (NSGC), establishing cancer genetic counseling as a sub-specialty.
Clinical research themes include clinical genetic testing and follow-up for families with familial cancer risk, the public health implications of cancer genetic testing, quality of life in those at increased risk of cancer, the integration of cancer risk assessment into family practice, and family-level cancer prevention. She also studies the impact of direct-to-consumer genetic testing and the relationship between germline and somatic mutations in cancer.
Dr. Steven Narod is a world-leader in the field of breast and ovarian cancer. He has shaped current knowledge of how to assess breast and ovarian cancer risk and reduce its mortality among carriers of BRCA1 and BRCA2 mutations. He studies vari
Dr. Steven Narod is a Tier I Canada Research Chair in Breast Cancer, a University of Toronto professor in the Dalla Lana School of Public Health and the Department of Medicine, and a senior scientist at Women’s College Research Institute, where he leads the Familial Breast Cancer Research Unit.
In 2012, Dr. Narod was elected a Fellow of the Royal Society of Canada. He holds two honorary degrees. He received the 2016 Killam Prize in health sciences and the 2015 Basser Global Prize. With more than 900 peer-reviewed publications and an h-index of 114, Dr. Narod is one of the most cited cancer researchers in the world.
Serena is a CRUK Advanced Clinician Scientist and Honorary Consultant in Clinical Genetics in Cambridge, UK. Serena went to the UK as a PETRONAS scholar from Malaysia in 1993, obtaining a First in Physiology at University of Cambridge before completing her medical degree in 2000. She trained as a physician and specialized in Clinical Genetics. She undertook a PhD at the Wellcome Sanger Institute in 2009 pioneering exploration of breast cancers through whole genome sequencing (WGS).
Serena demonstrated how detailed downstream analyses of all mutations present in WGS breast cancers could reveal mutational signatures, imprints left by mutagenic processes that have occurred through cancer development. She also identified a novel phenomenon of localised hypermutation termed 'kataegis'. Serena continues to explore large cancer datasets using computational approaches while investigating biological underpinnings of mutational signatures through cell-based model systems. She led a clinical project, Insignia (www.mutationsignatures.org) recruiting patients with DNA repair/replication defects, aging syndromes and neurodegeneration and is also focused on advancing the field into the clinical domain.
Prof. Paul Pharoah qualified in medicine from the University of Oxford in 1986. After a series of posts in internal medicine he worked for a year in Malawi on a leprosy vaccine trial. He then completed his training in public health medicine before taking up a post as research fellow in the CRC Human Cancer Genetics group at the University of Cambridge in 1996. Having completed his doctoral studies in 1999 he won a Cancer Research UK Senior Clinical Research Fellowship in 2004 his fellowship was renewed. On completion of his fellowship in 2009 he was appointed Reader in Cancer Epidemiology and promoted to a personal Chair in 2012, Department of Public Health and Primary Care, University of Cambridge.
His major research interests are i) common genetic variation and breast and ovarian cancer susceptibility and ii) the role of germline genotype in determining the clinical and molecular pathological characteristics of breast and ovarian cancer.
Prof Pharoah has published over 500 papers reporting original research as well as numerous book chapters and review articles. .
Dr. Robson graduated from the University of Virginia School of Medicine in Charlottesville, Virginia, and did his internal medicine residency and hematology-oncology fellowship training at Walter Reed Army Medical Center in Washington DC. He is currently Chief of the Breast Medicine Service in the Department of Medicine at Memorial Hospital in New York, an attending physician on Clinical Genetics Service, and a member of the Memorial Sloan Kettering Cancer Center.
His clinical research has concentrated on the optimal application of germline information to the management of cancer patients, particularly those with breast cancer. He has been a lead investigator for a number of trials of PARP inhibitors in patients with BRCA mutation – associated breast cancer. In addition to developing PARP inhibition as a therapeutic strategy, he is currently developing new models for the acquisition of germline information, including "mainstreaming" through test ordering by primary oncology providers and broad genomic screening in the context of somatic mutational profiling.
He serves on the editorial board of the Journal of Clinical Oncology and is an associate editor for the Journal of the National Cancer Institute and Genetics in Medicine. He is also the past chair of the Ethics Committee of the American Society of Clinical Oncology and has served several terms on the ASCO Cancer Prevention Committee and its Cancer Genetics subcommittee.
Marjanka K Schmidt obtained her MSc and PhD degree at the Division of Nutrition and Epidemiology, Wageningen University, the Netherlands. Her PhD included a large micronutrient intervention study in semi-rural areas of Indonesia. In 2002, she came to the Netherlands Cancer Institute to work as a postdoc on breast cancer; specifically on the survival of BRCA1/2 and CHEK2 c.1100delC mutation carriers. From 2008-2010 she undertook multiple working visits to the University of Cambridge, UK, and Helsinki University Central Hospital, Finland. From 2010, she was an assistant professor and in October 2015 she became a group leader (associate professor).
The research of her group focuses on the role of germline variants in development of genomic subtypes of breast cancer, second cancers, prognosis, and long-term outcome.
Lea is an Assistant Research Professor in the Genome Sciences department at the University of Washington and co-director of the Advanced Technology Lab at the Brotman Baty Institute for Precision Medicine where she develops massively parallel methods to determine the effects of genetic variation on protein function. Using this approach, she hopes to help solve the problem of variants of uncertain significance by scoring the pathogenic potential of genetic variants before they are found in the clinic.
Kári Stefánsson, MD, Dr. Med. is founder and CEO of Reykjavik-based deCODE genetics. In Iceland he has pioneered the use of population-scale genetics to understand variation in the sequence of the human genome. His work, published in more than 600 scientific papers, has focused on how genomic diversity is generated and on the discovery of sequence variants impacting susceptibility to common diseases. The population approach he has advanced in Iceland has served as the model for national genome projects around the world and contributed to the realization of several aspects of precision medicine, including to the discovery and development of therapeutic targets and compounds for Amgen. Prior to founding deCODE in 1996 he was professor of neurology, neuropathology and neuroscience at Harvard and had previously held faculty positions in neurology, neuropathology and neurosciences at the University of Chicago, from 1983-1993.
Dr. Stefansson has received some of the highest honors in biomedical research and genetics, including the including the Sackler Lecture at MIT, the European Society of Human Genetics Award, the Anders Jahre Award, the American Alzheimer’s Association’s Inge Grundke-Iqbal Award, the Federation of European Biomedical Societies’ Sir Hans Krebs Medal, and the American Society of Human Genetics (ASHG) William Allan Award. His work has been recognized by major international publications and bodies including Time, Newsweek, Forbes, BusinessWeek and the World Economic Forum. He holds Iceland's highest honor, the Order of the Falcon, and in 2019 was elected the first president of the Nordic Society of Human Genetics and Precision Medicine.
Kelly Tangney, MS, LCGC is the Head of Clinical Services at Color and lead genetic counselor for the All of Us Research Program Genetic Counseling Resource. Kelly joined Color in 2015 with a focus on counseling patients and their families at risk for hereditary adult-onset conditions and expanding Color's mission of broadening access to genetic testing. Kelly now manages a team of remote clinical genetic counselors across the country that carry out genetic counseling services for clients that undergo Color clinical genetic testing and remotely supervises genetic counseling students. Since earning her B.S. in Psychobiology from the University of California, Los Angeles (UCLA) and her M.S. in Genetic Counseling from California State University, Stanislaus but prior to joining Color, Kelly worked at UCLA, Kaiser Permanente and the Veterans Administration Los Angeles as a general adult genetic counselor.
Dr. Tischkowitz is a Reader in Medical Genetics at the University of Cambridge and an Honorary Consultant Physician in the East Anglian Medical Genetics Service. He completed his medical degree in 1993 and trained Medical Oncology before completing his specialisation in Medical Genetics. From 1999-2002 he undertook a PhD researching the role of Fanconi anemia gene mutations in the development of sporadic acute myeloid leukaemia.
He held a Consultant post at Great Ormond Street Hospital before moving to McGill University, Montreal in 2005 where he worked on Faculty for six years before coming to Cambridge. Much of his research has been on the Fanconi Anemia genes and hereditary breast cancer predisposition but his interests cover all areas of hereditary cancer and at present he is focused on translating the recent advances in genomic technology into clinical practice.
Clare Turnbull is a UK clinician-researcher in the field of cancer susceptibility genomics based at the Institute of Cancer Research, London and Genomics England Ltd. She has published extensively in genetic susceptibility to breast, ovarian, testicular and childhood cancers, including early GWAS in breast cancer and identification of RAD51D and RAD51C as susceptibility genes for ovarian cancer.
Dr Weigelt received her PhD from the Netherlands Cancer Institute/ University of Amsterdam, The Netherlands, and undertook her postdoctoral training at Lawrence Berkeley National Laboratory, Berkeley, USA, and Cancer Research UK London Research Institute, London, UK, before moving to Memorial Sloan Kettering Cancer Center in New York, USA in 2012.
Dr Weigelt is a Molecular Geneticist and the Director of the Gynecologic Research Laboratory at Memorial Sloan Kettering Cancer Center. Her research interests include the identification of biologically relevant subclasses of breast and gynecologic cancers and their driving molecular alterations through high-throughput genomics and functional genomics, the determination of strategies to overcome the challenges posed by intra-tumor genetic heterogeneity through cfDNA and single cell sequencing analyses, and the study of the somatic genetics of hereditary breast and gynecologic cancers.
She serves on the Editorial Board of the Journal of the National Cancer Institute, the Journal of Pathology and the European Journal of Cancer.
Jeffrey N. Weitzel, MD is Chief of the Division of Clinical Cancer Genomics and the Cancer Screening & Prevention Program at the City of Hope Comprehensive Cancer Center in Duarte, California. Dr. Weitzel is Board Certified in clinical genetics and medical oncology, and he is a Professor of Oncology and Population Sciences at the City of Hope. He is the inaugural holder of the Dr. Norman and Melinda Payson Professorship in Medical Oncology. At the vanguard of precision prevention, Dr. Weitzel’s multidisciplinary clinical, research, and training programs emphasize translational research in genomic cancer risk assessment, chemoprevention, targeted therapy, clinical and psychosocial outcomes, as well as genomic epidemiology and implementation research in underserved minorities and in Latin America. He is a Breast Cancer Research Fund scholar and is a member of the American Society of Clinical Oncology, the American Association for Cancer Research, the American Society of Human Genetics, the NCCN Genetics/Familial Risk Assessment practice guidelines committee and the American Association for Cancer Education. Dr. Weitzel is the principal investigator for the City of Hope Clinical Cancer Genomics Community Research Network and founded the Cancer Genomics Education Program, funded in part by the National Cancer Institute.
Dr. Zogopoulos completed his clinical training at the University of Toronto, and his research training at McGill University and at the University of Toronto. He obtained his PhD in Experimental Medicine at McGill University, where he studied the regulatory mechanisms of a gene responsible for human growth. He pursued postdoctoral research training during his residency, enrolling in the surgeon-scientist program of the University of Toronto. His research fellowship was undertaken at the Samuel Lunenfeld Research Institute, where he studied the hereditary aspects of colon and pancreas cancer. His current research focuses on gastrointestinal cancer genetics, with an emphasis on pancreas cancer.