OHSU Rare 2015 Bonus Materials

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Equipped with his five senses, man explores the universe around him and calls the adventure Science.  ~Edwin Powell Hubble, The Nature of Science, 1954


April 7, 2015, from 4-8:30 pm at OHSU in the Joseph Vey Conference Center

11th Floor, Doernbecher Children’s Hospital
700 SW Campus Drive
Portland, OR 97239

Helpful Links

NIH Rare Disease Research Clinical Networks

Speaker Bios

Sekar Kathiresan, M.D., Associate Professor of Medicine, Harvard Medical School

Director, Preventive Cardiology Massachusetts General Hospital Associate Member, Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard

Sekar Kathiresan, a clinical cardiologist and human geneticist, is the director of preventive cardiology at Massachusetts General Hospital and a genetics researcher in the Broad Institute is Program in Medical and Population Genetics. Dr. Kathiresan seeks to discover the genes responsible for inter-individual differences in risk for heart attack and use this information to understand biologic mechanisms and to improve preventive cardiac care. His scientific contributions have been four-fold. First, through genetic studies in populations, he and collaborators have discovered 45 gene regions related to risk for heart attack and 95 gene regions related to risk factors for heart attack including blood cholesterol and triglycerides. Second, through genetic studies in families, he has identified a gene responsible for extremely low levels of LDL cholesterol. Third, he has utilized gene variants to show that some means of raising HDL cholesterol may not lower risk for heart attack. Finally, he has identified a panel of gene variants that can be used to assess future risk for heart attack. Dr. Kathiresan is an associate professor of medicine at Harvard Medical School. He received his B.A. in history and graduated summa cum laude from the University of Pennsylvania in 1992. He received his M.D. from Harvard Medical School in 1997. Kathiresan completed his clinical training in internal medicine and cardiology at MGH. He served as Chief Resident in Internal Medicine at MGH in 2002-2003. Kathiresan pursued research training in cardiovascular genetics through a combined experience at the Framingham Heart Study and the Broad Institute of MIT and Harvard. In 2008, he joined the research faculties of the MGH Cardiovascular Research Center and the MGH Center for Human Genetic Research. http://www.kathiresanlab.org/about-sek/


Mary Stenzel-Poore, Ph.D., Senior Associate Dean for Research in the OHSU School of Medicine

Dr. Mary Stenzel-Poore is the Senior Associate Dean for Research in the School of Medicine at OHSU and oversees a $230M portfolio of basic, translational and clinical research programs. Dr. Stenzel-Poore has led the research enterprise in strategic planning to create a research roadmap that guides resource allocation in the School. Dr. Stenzel-Poore is also the Chair of the Molecular Microbiology and Immunology department and an active scientist with a research program that focuses on immune strategies to protect against brain injury in the setting of stroke. She has authored ~ 100 publications on topics relevant to the immune and nervous systems. Dr. Stenzel-Poore received her PhD in immunology from OHSU in 1987 followed by a postdoctoral fellowship in neuroscience at the Salk Institute in La Jolla, California. She has been on the OHSU faculty since 1993. Dr. Stenzel-Poore is the founder NeuroAlexo, a new biomedical start-up company, which is focused on the development of neuroprotective therapies to protect against ischemic injury.


Laura Hays, Ph.D., Executive Director Fanconi Anemia Research Fund

Laura Hays, PhD, is Executive Director of the Fanconi Anemia Research Fund, a post she has held since April 2013. She received her PhD in Oncological Sciences in 2002 from the University of Utah and performed subsequent postdoctoral fellowships at the University of Washington and OHSU. After her postdoctoral training she was an Assistant Professor in the Department of Hematology and Oncology at OHSU. Her research focused on genomic instability and its role in driving epithelial and hematological malignancies. Dr. Hays left academia in April 2013 to lead the Fanconi Anemia Research Fund, a non-profit organization designed to fight the rare disease she worked on for over nine years. Her focus now is on patient advocacy, and establishing relationships with other non-profits, scientists and pharma to find a cure for this deadly disease.


Maureen Hoatlin, Ph.D., MBA, Associate Professor of Biochemistry & Molecular Biology, Co-chair, OHSU Rare Disease Research Consortium

Dr. Hoatlin is an Associate Professor of Biochemistry & Molecular Biology, and Molecular & Medical Genetics at OHSU. She was a project chemist at SRI International and a research associate at Genentech, Inc. before receiving a Ph.D. at OHSU for graduate work focusing on the role of retroviruses in pathogenesis and hematopoietic cancers. Dr. Hoatlin’s research in the Fanconi Anemia/Breast Cancer (FA/BRCA) cancer susceptibility pathway has contributed to the discovery and characterization of ten novel human genes, many with critical but poorly understood roles in hematopoiesis, cancer susceptibility, and resistance to chemotherapeutic agents. Dr. Hoatlin’s lab pioneered a cell-free approach to analyze the function of the FA/BRCA pathway, receiving a patent for a novel small molecule inhibitor screen for identification of pathway inhibitors and chemosensitizing compounds. Dr. Hoatlin completed an MBA in 2012 with an emphasis on international business in Asia, as well a specialized UCSF course on the drug development pipeline that focused on preparation for future developments in the global pharmaceutical sector. Dr. Hoatlin is a founding co-chair of the OHSU Rare Disease Consortium. Twitter @hoatlinlab fb: hoatlinlab


Eric Orwoll, M.D., Professor of Medicine, Brittle Bone Disorder Rare Disease Research Clinical Network

Dr. Orwoll specializes in the evaluation and care of patients with osteoporosis, other forms of metabolic bone disorders, and abnormalities of calcium metabolism. He is Professor of Medicine and Attending Physician in the Bone and Mineral Section of the Division of Endocrinology, Diabetes, and Clinical Nutrition, and has been the Director of the Bone and Mineral Clinic, and of the Bone Density Lab. He is an internationally recognized expert in the area of bone biology and metabolic bone disease, and has considerable experience in basic, clinical, and epidemiological research. Major areas of research interest include the epidemiology, etiology and therapy of osteoporosis in men, the evaluation of new diagnostics and therapeutics, effects of sex steroids on skeletal biology, and skeletal genetics. He has been the principle investigator for many projects supported by the National Institutes of Health, VA and foundations, and is the author of more than 300 peer reviewed publications, reviews, books, and book chapters. He is also an experienced leader in academic medicine, with extensive responsibility for clinical and translational research planning and management. He is the Associate Vice-President for Research at OHSU, Associate Dean for Clinical Research in the School of Medicine, and the Director of the Oregon Clinical and Translational Research Institute. Dr. Orwoll receives research support from the National Institutes of Health, Merck, Eli Lilly, and Amgen. He provides consultations to Merck, Amgen, and Wright Medical.


David Spiro, M.D., Co-founder and Chief Medical Officer, ReelDx and Associate Professor of Pediatrics, OHSU

Dr. Spiro went to medical school at UCSF and is a board certified pediatric emergency physician. Dr. Spiro's first faculty position in pediatric emergency medicine was at Yale University. Dr. Spiro founded the Pediatric Emergency Department at OHSU and served as Section Chief for 9 years and co-founded the fellowship program. Over the past 15 years he has developed the use of video-visual diagnostics for teaching and integration of this platform into healthcare. This is his passion, and this year he has taken a clinical sabbatical to focus exclusively on bringing real patient video to the broader healthcare audience, including nursing, medicine and prehospital care as Chief Medical Officer of ReelDx. The next phase of the company, via our platform medvid.io, will be to utilize the power of its HIPAA compliant platform to engage patients and clinicians to capture, store and share video to reduce costs and improve healthcare outcomes.


Evan Shereck, M.D., Associate Professor of Pediatrics at OHSU , Primary Immune Deficiency Treatment Consortium

Dr. Shereck received her BS from Carnegie Mellon University and her MD from Rutgers Robert Wood Johnson Medical School (formerly University of Medicine and Dentistry of New Jersey). She completed her pediatric residency training and her pediatric hematology/oncology fellowship training both at Columbia University/Morgan Stanley Children's Hospital of New York. Dr. Shereck is currently an Associate Professor of Pediatrics at OHSU and specializes in bone marrow transplantation for patients with bone marrow failure syndromes and immunodeficiencies. She is one of the consultants for the Oregon Newborn Screening Program for severe combined immunodeficiency (SCID). She is also a member of the Primary Immune Deficiency Treatment Consortium (PIDTC), which works in a collaborative fashion to gather more data about patients with these rare diseases. Visit us on Facebook: https://www.facebook.com/OHSUPHO


Markus Grompe, M.D., Fanconi anemia Program Project P.I., Professor, Departments of Pediatrics and Molecular and Medical Genetics, Director, Papé Family Pediatric Research Institute

Dr. Grompe received his medical degree (Dr. med.) in 1982 at the University of Ulm Medical School in Germany. From 1984-1987 Dr. Grompe was trained in Pediatrics at Oregon Health Sciences University in Portland, Oregon, USA and then moved to Baylor College of Medicine in Houston, Texas. There he was a fellow sponsored by the Pediatric Scientist Training Program in the Institute for Molecular Genetics from 1987-1991 and worked on gene therapy for inherited diseases, particularly metabolic liver disorders. In 1991, Dr. Grompe joined the faculty at Oregon Health & Science University and he is currently Professor in the Departments of Pediatrics and Molecular and Medical Genetics. He is a recipient of the E. Mead Johnson award for pediatric research (2002) and the Merit Award of the Fanconi Anemia Research Foundation (2002). He is involved in the clinical care of patients with genetic diseases as well as scientific investigation. In 2004 he became the first director of the newly founded Oregon Stem Cell Center. Since 2008 he is the holder of the Ray Hickey Chair and the Director of the Papé Family Pediatric Research Institute.


Cary O. Harding, M.D., FACMG, Professor of Molecular and Medical Genetics and Pediatrics

Dr. Harding Professor of Molecular and Medical Genetics and Pediatrics at Oregon Health & Science University (OHSU). He received his medical degree from the University of Washington followed by pediatric and medical genetics training at the University of Wisconsin-Madison. He is board certified in Pediatrics, Clinical Genetics, and Biochemical Genetics. Dr. Harding is a founding fellow of the American College of Medical Genetics. He is an attending physician on the OHSU clinical genetics service as well as in both the clinical genetics clinic and the metabolic clinic at Doernbecher Children’s Hospital. He is the Medical Director of the Biochemical Genetics Lab at OHSU. He is also a clinical consultant to the Northwest Regional Newborn Screening Program and to the State of Idaho Genetics Program. Dr. Harding’s basic and clinical research programs are focused upon the development of novel therapies, including gene and cell therapies, for inborn errors of metabolism.


David H. Ellison, M.D., Professor of Medicine and Physiology & Pharmacology, Director of the Oregon Clinical and Translational Research Institute

Dr. Ellison is Professor of Medicine and Physiology & Pharmacology and was recently appointed as Director of the Oregon Clinical and Translational Research Institute at Oregon Health & Science University. He was previously Head of the Division of Nephrology and Hypertension for 13 years and is a Staff Physician at the Portland VA Medical Center. Dr. Ellison’s honors include election to the Association of American Physicians and the American Clinical and Climatological Association, receipt of awards, including the Gottschalk award from the American Physiological Society and the Distinguished Research Award from the OHSU Faculty Senate, and numerous named lectureships.

Dr. Ellison’s research centers on mechanisms of salt transport by the kidney and the genetic basis of human blood pressure variation. A long-term focus is the protein target of thiazide diuretics, drugs recommended as first-line antihypertensive agents. His work first showed that mutations in this protein, which cause Gitelman syndrome, disrupt its function to lower blood pressure. More recently, he has shown how mutations in WNK kinases and in cullin 3 cause the rare hypertensive disease, familial hyperkalemic hypertension. His work has been published in journals such as Nature Medicine, Cell Metabolism, and the Journal of Clinical Investigation, and has been supported continuously by the NIDDK and the VA for more than 20 years.


Xiaobing Qian, M.D., Ph.D., Executive Director Translational Medicine, Regeneron Pharmaceuticals, Inc.

Dr. Qian heads the translational medicine strategy planning group for scientific and clinical evaluation of indication opportunities for drug candidates across all Regeneron therapeutic focus areas including Immune and Inflammation, Oncology, Cardiovascular and Metabolic Diseases, Ophthalmology, Infectious Diseases, Pain, Neurological/Skeletal/Muscular Disorders. Early Clinical Development Medical Director: first in human (FIH) through proof of concept (POC); disease natural history and biomarker studies.

Dr. Qian received a M.D. from Beijing Medical University in 1989, and a Ph.D. in Biochemistry and Molecular Biology from the University of Illinois College of Medicine. Her postdoctoral work at the Gladstone Institute at UCSF focused on lipid metabolism, Apolipoprotein metabolism, ApoB RNA editing and tissue specific gene regulation of Apobec-1. Dr. Qian became a project leader at Avigen, Inc., working on AAV-based gene therapy, then executive Director at CGI Pharmaceuticals before joining Regeneron in 2007.