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W. Marston Linehan, M.D. received his internship, residency, and fellowship training at Duke University Medical Center. He began his career at the National Cancer Institute in 1982 with positions as Senior Investigator and Urologist-in-Charge, NCI. He is Chief of the Urologic Oncology Branch at the National Cancer Institute, National Institutes of Health, Bethesda, Maryland. He has had a long-standing interest in identification of the genetic basis of cancer of the kidney. By studying patients and families with kidney cancer, he and his colleagues identified 8 kidney cancer genes, including the VHL gene for von Hippel-Lindau syndrome and showed that the VHL gene is also the gene for clear cell renal cell carcinoma. He and his colleagues identified the gene for Hereditary Papillary Renal Carcinoma (MET oncogene, type I papillary renal carcinoma) the FLCNgene (Birt Hogg Dubé syndrome, chromophobe renal carcinoma), the gene for TFE3kidney cancer, IDH2 kidney cancer and described the germline fumarate hydratase and succinate dehydrogenase B/C/D mutations in the North American families with hereditary leiomyomatosis renal cell carcinoma (HLRCC) and SDH-RCC and described eight new diseases. This work has provided the basis for the development of new therapeutic strategies for the different types of kidney cancer based on understanding the molecular pathway of the specific cancer genes associated with the different types of kidney cancer. He and his colleagues have defined the methods for surgical and clinical management of kidney cancer associated with the hereditary forms of kidney cancer, von Hippel Lindau, Hereditary Papillary Renal Carcinoma and Birt Hogg Dubé syndrome and Hereditary Leiomyomatosis Renal Cell Carcinoma and Succinate Dehydrogenase Renal Cell Carcinoma.
Dr. Linehan and his colleagues’ work, showing that “VHL associate….with elongins B and C and…..that VHL is found in a complex with the CUL-2 proteins….revealed a potential link between VHL and protein degradation”, was cited by the Nobel Assemblyat Karolinska Institutet in 2019 as providing the critical foundation for the discovery of “How Cells Sense and Adapt to Oxygen Availability”. He has published over 800 scientific articles and is a member of the National Academy of Medicine. He has received the Joseph H. Burchenal Memorial Award for Outstanding Achievement in Clinical Cancer Research from the American Association of Cancer Research, the Dr. Nathan Davis Award from the American Medical Association, the Lila Gruber Award for Cancer Research from the American Association of Dermatology, the NIH Director’s Award for discovery of the VHL Kidney Cancer and Oxygen Sensing Gene, the Barringer Medal from the American Association of Genitourinary Surgeons, the Gold Cystoscope Award, the Distinguished Contribution Award and the Ramon Guiteras Award from the American Urological Association, the Huggins Medal, the SUO Medaland the Whitmore Lecture Award from the Society of Urologic Oncology and the Andrew C. Novick Award from the Kidney Cancer Association. He is or has been on the editorial board of 15 journals.
Clinical Director, von Hippel-Lindau Disease/Familial Renal Cell Cancer Program, Massachusetts General Hospital Cancer Center
Associate Professor of Medicine, Harvard Medical School
Dr Sandra Turcotte is AssociateProfessor of Biochemistry and molecular biology at the Université de Moncton, New Brunswick, Canadaand Researcher in residency at the Atlantic Cancer Research Institute. She completed her PhD in Biochemistry at the Université du Québec à Montréal and Post-doctoral Fellowships at Stanford University in California and at the CRCHUM in Montreal.
Her research focus on identifyingnew therapeutic targetsfor kidney cancer associated with VHL mutations. Her studies identifieda small molecule that kill VHL-mutated cancer cellsby disrupting lysosome dynamics.Her laboratory utilizeda variety of methods in molecular biology such as CRISPR-Cas9 to study the role of important genes involved in kidney cancer, particularly the von Hippel-Lindau gene its implication in autophagy.
Dr. Turcotte hold a Canadian Cancer Society Research Chair in New Brunswick since 2011. Her research funding is coming from provincial and national organisms including the Canadian Institutes for Health Research (CIHR), the Kidney Foundation of Canada (KFOC), the Cancer research Society and the New Brunswick Health Research Foundation (NBHRF).
Amit Tirosh graduated from the Hadassah Medical School (2007) and specialized in Internal Medicine (2012) and Endocrinology (2015). Dr. Tiroshspecialized in managing endocrine cancer and cancer bioinformatics at the U.S. National Cancer Institute between 2015-2018. After his return to Israel, Prof Tirosh established the neuroendocrine tumors unit and the VHL Clinic at Sheba Medical Center, Israel, and opened a research lab focusing on hereditary endocrine cancer syndromes, and specifically on VHL-related endocrine tumors. In 2018 the VHL Clinic was recognized as a VHL Clinical Care Center by the VHL Alliance. Prof. Tirosh published works on endocrine cancer genomics in highest-tier journals, including JAMA Oncology, Gastroenterology, Cancer, and the Journal of Clinical Endocrinology and Metabolism, and has been awarded grants by the leading professional societies, including the VHL Alliance (2020), the Israel Cancer Research Fund (2021), the Neuroendocrine Tumors Research Foundation Pilot Grant (2021), and the Israel Science Foundation grant (2022). Amit was a member of the expert team developing the clinical recommendations for VHL management for the VHL Alliance and led the subcommittee responsible for the VHL-related pancreatic manifestations management recommendations, that were published in 2021.
Rachel van Leeuwaardeis an endocrinologist and clinical epidemiologist at the University Medical Center of Utrecht. She is the chair of VHL multidisciplinary tumor board and the coordinating VHL specialist at the UMC Utrecht. Her research is directed to epidemiology, quality of life related studies, and novel therapies for genetic tumor syndromes, with a special interest in VHL and MEN syndromes. She is a leading investigator of the Prospective Dutch VHL cohort which involves a national prospective registrry and biobank.
Rush S. Dickson Professor of Medicine, Genetics, and Pharmacology,
Division of Oncology
Co-leader Cancer Genetics Program, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill
Dr. Ferens works alongside Professor Michael Ohh at the University of Toronto’s Department of Laboratory Medicine and Pathobiology. Dr. Ferens’ focus is on studying the complex genotype-phenotype relationships of pseudo-hypoxic cancer disorders (VHL disease, HIF2-driven disease and PHD-driven disease) using biophysics, structural biology and cell models. The goal of his work is to provide information that will inform the treatment of individuals suffering from these cancer disorders, particularly informing precision medicine approaches, which will benefit from an understanding of how specific mutations in the components of the metazoan oxygen-sensing pathway are causative of disease.
Dr. Hamed Najafabadiobtained his PhD from McGill University in 2012, followed by a postdoctoral fellowship in University of Toronto. He joined McGill University as a faculty member in 2016, where he is now an Associate Professor of Human Genetics and holds a Canada Research Chair in Systems Biology of Gene Regulation. Dr. Najafabadi’s research encompasses the study of transcription factors, RNA-binding proteins, and non-coding RNAs in the context of cancer. His lab uses data-driven computational methods to characterize the role of these gene regulatory factors in determining cell identity and function, and combines them with patient omics data to uncover the basis for development and progression of cancer.
Eric Jonasch, MDisProfessor in the Department of Genitourinary Medical Oncology, Division of Cancer Center at the University of Texas M. D. Anderson Cancer Center in Houston, Texas.
Dr. Jonasch is director of the VHL Clinical Center at the MD Anderson Cancer Center and is involved in tissue-based translational research in renal cell carcinoma and VHL disease. He heads a number of investigator-initiated clinical trials and leads the Department of Defense Kidney Cancer Research and VHL Consortia. Dr. Jonaschis in charge on an ongoing laboratory research effort evaluating the determinants of response and resistance to therapy in renal cell carcinoma and VHLdisease.Dr. Jonasch’s current work focuses on understanding the drivers of renal cell carcinoma tumor ontogeny, and the development of informative models of tumor-microenvironmental interaction. Dr. Jonasch serves as Vice-Chair of the NCCN Kidney Cancer Guideline Panel and is a Board member of the International Kidney Cancer Coalition
Kaleneis a genetic counsellor working in the Medical Genetics Program at London Health Sciences Centre in prenatal, cancer and neuro-genetics. Prior to obtaining her Master’s degree in genetic counselling, she worked in clinical cancer genetics research at SickKids. It was this work in surveillance for rare hereditary cancer predisposition syndromes which inspired her Master’s thesis project looking at the psychosocial aspects of surveillance.
Head and Professor of Surgery, Kliniken Essen-Mitte Academic Hospital of the University of Duisburg-Essen, Cologne Bonne Region, Germany
Emily Chew is the director of the Division of Epidemiology and Clinical Applications and the Chief of Clinical Trials Branch, at the National Eye Institute/National Institutes of Health. She received her medical degree and her ophthalmology training at the U. of Toronto, School of Medicine. She completed her fellowship in Medical Retina at the Wilmer Eye Institute, the Johns Hopkins Medical Institutes and the U. of Nijmegen, the Netherlands. She has designed, conducted, and completed clinical trials and epidemiologic studies in retinovascular diseases including several large randomized trials: the Age-Related Eye Disease Study (AREDS)/AREDS2, the Actions to Control Cardiovascular Risk in Diabetes (ACCORD) Eye Study, and the clinical trials of the international Macular Telangiectasia Project (Mac Tel Project) for the treatment of age-related macular degeneration, diabetic retinopathy and macular telangiectasia type 2, respectively. She also conducted clinical trials in the ocular disease of von Hippel Lindau disease. She collaborates with colleagues at the National Library of Medicine (NLM/NIH) utilizing of artificial intelligence/deep learning on detecting, classifying, and predicting the progression of ophthalmic diseases. She is the Editor-in-Chief for Ophthalmology Science.
Dr. Semenza is the C. Michael Armstrong professor of genetic medicine, with joint appointments in pediatrics, radiation oncology, biological chemistry, medicine, and oncology at the Johns Hopkins University School of Medicine. He serves as the founding director of the Vascular Program at the Johns Hopkins Institute for Cell Engineering and the founding director of the Armstrong Oxygen Biology Research Center.
Dr. Semenzareceived an A.B. (in Biology)from Harvard UniversityandM.D.and Ph.D.(in Genetics) degrees from the University of Pennsylvania. He completed pediatrics residency training at Duke University Medical Center and postdoctoral training in medical genetics at Johns Hopkins. He has been a member of the Johns Hopkins faculty since1990.
Dr. Semenza’s lab discovered hypoxia-inducible factor 1 (HIF-1), a transcription factor that controls the expression of thousands of genes in response to changes in oxygen availability, for which he was awarded the 2019 Nobel Prize in Physiology or Medicine. His current research interests include investigating the molecular mechanisms of oxygen homeostasis and the role of HIF-1 in cancer progression. He has authored more than 450research articles and book chapters, and his work has been cited by other scientists more than 175,000 times. Dr. Semenza is co-founder of HIF Therapeutics Inc., which is focused on the development of HIF inhibitors for the treatment of cancer and blinding eye diseases.
In addition to the Nobel Prize, Dr.Semenza has received the Albert Lasker Basic Medical Research Award(2016), Wiley Prize in Biomedical Sciences (2014), Lefoulon-Delalande Grand Prize from the Institut de France(2012), and the Canada Gairdner International Award (2010).
Department Head and Professor, Organic Chemistry, Department of Chemistry, University of Oxford, Oxford, England
Fellow of the Royal Society, England
Dr. Paul Nathan is Director of the AfterCareclinic and the Section Head of the Solid Tumor section in the Division of Pediatric Hematology/Oncology and a Senior Associate Scientist in the Research Institute at the Hospital for Sick Children. He is a Professor of Pediatrics and Health Policy, Management and Evaluation at the University of Toronto. Dr. Nathan completed his medical degree in 1991 from the University of Toronto. His research is focused on health care utilization by adult survivors of childhood cancer, as well as specific “late effects” of cancer therapy, including cardiac disease and second malignant neoplasms. He is a member of the American Society of Clinical Oncology, the Children’s Oncology Group, and the International Society of Pediatric Oncology (SIOP), as well as clinical committees focused on research, clinical care, and policy creation for long-termsurvivors of childhood cancer.
Ozgur Mete, MD, FRCPCis a Consultant Endocrine Pathologistat the University Health Network, and Professor in the Department of Laboratory Medicine and Pathobiology at the University of Toronto.
As a ClinicianInvestigator, Dr. Mete’sresearch focusses on the translation of basic findings to clinical tests to provide diagnostic, prognostic, and predictive biomarkers for endocrine tumors. His other interests involve development of practice guidelines, digital pathology, and innovative teaching designs.
In 2013, Dr. Metereceivedthe Danny Ghazarian Resident Teaching Award, and in 2014 and 2017 theprestigious Wightman-Berris Academy Award for excellence in undergraduate and postgraduate medical teaching at the University of Toronto. In 2018, Dr. Metereceived the teaching excellence award of the MD program at the University of Toronto as well as the undergraduate teaching award of the Laboratory Medicine and Pathobiology at the University of Toronto. Dr. Meteis currently theAnatomicPathologyResidency Site Director at the University Health Network.
Dr. Metehas lectured in many international meetings, has co-edited 5pathology textbooks, and authored over 140textbook chapters, and more than 230peer-reviewed journal articles in endocrine pathology.
Dr. Mete has been appointed as one of the expert editors for the 5th series of the WHO endocrine and neuroendocrine, and the WHO head&neck bluebooks. In addition, Dr. Mete served as a leading author in several chapters for the 4thand 5theditionsof the WHO classification of endocrine and neuroendocrine tumors, and he has been actively involved in endocrine chapters in the 5thseriesof the WHO central nervous system, pediatric, genitourinary, and head&neckbluebooks.
Dr.Mete is currently the Editor-in-Chief of Endocrine Pathology Journaland has been the President of Endocrine Pathology Society(March 2020-March 2022). Dr. Meteis also a member of the College of American Pathologists (CAP)’s Cancer Committee and has been appointed to lead the CAP endocrinetumorprotocolssince2019.
Dr. Electron Kebebewis an internationally recognized expert in Endocrine Oncology and Surgery. He has performed more than four thousand operations on the adrenal, parathyroid, and thyroid glands, and for neuroendocrine tumors of the gastrointestinal tract and pancreas. He has given over 200 invited lectures and visiting professorships. His clinical and translational studies on endocrine and neuroendocrine tumors have been awarded more than $30 million in research funding. Dr. Kebebew has authored and coauthored over 400 scientific articles, 50 book chapters, and edited or co-edited four textbooks. His scientific contributions include the use of molecular markers in thyroid nodule to refine diagnosis and prognostication, identification of novel target for endocrine cancer therapy, implementation of genetic testing and advanced imaging modality to optimize the management of patients with endocrine neoplasm and to allow the practice of precision surgery, and the identification and characterization of inherited endocrine and neuroendocrine syndromes, and their susceptibility genes.
Senior Investigator and Professor of Medicine
Chief, Section on Medical Neuroendocrinology
Head, Developmental Endocrinology, Metabolism, Genetics and Endocrine Oncology Affinity Group, Eunice Kennedy Shriver NICHD, NIH
National Institutes of Health, Maryland, USA
Raymond Kim is an internal medicine and medical genetics specialist at the University of Toronto. He is Associate Professor of Medicine and Provincial Head of the Provincial Genetics Program at Ontario Health. His clinical interests lie in transition of care, complex multi-disciplinary care and adult hereditary disorders including patients with Von Hippel Lindau disease. With the support of a VHL Clinical Research Grant, his group has published a large scale machine learning analysis of over 2882 VHL patients. His other research interests incorporate novel genomic technologies in clinical care including whole genome sequencing and circulating DNA.
2022© VHL Symposium