Leslie G. Biesecker, M.D., received his undergraduate education at the University of California, Riverside, and his medical training at the University of Illinois, and he served his residency in pediatrics at the University of Wisconsin. He trained as a medical genetics fellow at the University of Michigan. He is certified by the American Board of Pediatrics and the American Board of Medical Genetics. He is currently senior investigator and chief of the Genetic Disease Research Branch, National Human Genome Research Institute. He is a member of the American Society of Clinical Investigators, the Association of American Physicians, and the American Society of Human Genetics (ASHG). He has served as a member of the ASHG subcommittee on the use of stored DNA samples, the David Smith meeting organizing committee, the National Cancer Institute Institutional Review Board, the National Institute of Child Health and Human Development strategic planning committee, the World Trade Center Kinship and Data Analysis Panel, the ASHG program committee, and the ASHG board of directors. He serves on the editorial boards of Clinical Dysmorphology, BMC Medicine, and the American Journal of Medical Genetics. He serves as medical advisor to the Proteus Syndrome Foundations of the United States and the United Kingdom. His research interests include applications of genomic technology to human disease and clinical and genetic delineation of human heritable disorders.
Bruce D. Blumberg, M.D., is director of graduate medical education (the resident physician training programs) for Northern California Kaiser Permanente. He currently maintains small clinical practices at both his
Oakland and San Francisco facilities. He believes in a team-based approach to medical care with patients and their families as key members of the team. Since he practices at multiple sites, genetic counselors are a crucial and consistent communication link between him and his patients. Also, he is a clinical professor of pediatrics at the University of California, San Francisco, and an adjunct clinical professor of pediatrics at Stanford University School of Medicine. His clinical interests within genetics are broad, and he has a subspecialty interest in inherited disorders of skeletal and connective tissue development. His research interest is in the area of the psychosocial and emotional aspects of prenatal diagnosis. Dr. Blumberg holds a medical degree from the Yale University School of Medicine, completed his residency in pediatrics at both Stanford University Hospital and UCLA Center for the Health Sciences, and held a specialty fellowship in medical genetics at Harbor-UCLA Medical Center. He also received a B.A. from Dartmouth College.
Mark S. Boguski, M.D., Ph.D., FCAP, is on the faculty of Harvard Medical School at the Center for Biomedical Informatics and the Department of Pathology at Beth Israel Deaconess Medical Center in Boston. He previously held positions at the Johns Hopkins University School of Medicine, the National Institutes of Health, and the National Library of Medicine and served as an executive in the biotechnology and pharmaceutical industries. Dr. Boguski is a former vice president of Novartis and was honored as a visionary and influencer by the Personalized Medicine Coalition in 2006. He was elected to the Institute of Medicine of the National Academy of Sciences and the American College of Medical Informatics in 2001. Dr. Boguski is a graduate of the Medical Scientist Training Program at Washington University in St. Louis.
Wylie Burke, M.D., Ph.D., is professor and chair of the Department of Bioethics and Humanities at the University of Washington. She received a Ph.D. in genetics and an M.D. from the University of Washington and completed a residency in internal medicine at the University of Washington. She was a medical genetics fellow at the University of Washington from 1981 to 1982. Dr. Burke was a member of the Department of Medicine at the University of Washington from 1983 to 2000, where she served as associate director of the internal medicine residency program and was founding director of the University of Washington’s Women’s Health Care Center. She was appointed chair of the Department of Medical History (now the Department of Bioethics and Humanities) in October 2000. She is also an adjunct professor of medicine and epidemiology and a member of the Fred Hutchinson Cancer Research Center. She is a member of the Institute of Medicine and the Association of American Physicians and is
a past president of the American Society of Human Genetics. Dr. Burke’s research addresses the social, ethical, and policy implications of genetics, including responsible conduct of genetic and genomic research, genetic test evaluation, and implications of genomic health care for underserved populations. She is director of the University of Washington Center for Genomics and Healthcare Equality, an NHGRI Center of Excellence in Ethical, Legal, and Social Implications research, and codirector of the Northwest-Alaska Pharmacogenomic Research Network.
Michael F. Christman, Ph.D., is president and chief executive officer of the Coriell Institute for Medical Research. With an entrepreneurial spirit, he is guiding Coriell on new ventures in emerging science that will both further the institute’s research and add to the breadth of services it provides to scientists worldwide. In 2007 he initiated the Coriell Personalized Medicine Collaborative, a research study evaluating the utility of using the knowledge of genetics in medicine. As a leader in the exploration of genomics, Coriell is paving the way toward the development of personalized medicine. Under his leadership, Coriell has also established a federally funded induced pluripotent stem cell lab. This remarkable technology allows a skin or blood cell to be coaxed into becoming nearly any cell type in the body, opening new avenues for research, drug discovery, and, eventually, therapy. He recently collaborated with Dr. Charles Rotimi of the National Institutes of Health (NIH) to perform one of the first genome-wide association studies on an African American cohort—the Howard University Family Study. He is an expert in genetics and genomics, with a focus on the integration of genomic information into the delivery of clinical care. Prior to joining Coriell, he served as professor and founding chair of the Department of Genetics and Genomics at the Boston University School of Medicine. There he led an international team of scientists in one of the first genome-wide association studies using the Framingham Heart Study cohort, published in Science magazine in 2006. He received his bachelor’s degree in chemistry with honors from the University of North Carolina at Chapel Hill; his doctorate in biochemistry from the University of California, Berkeley; and was a Jane Coffin Childs postdoctoral fellow at the Massachusetts Institute of Technology. He serves on the New Jersey Technology Council Board of Directors, the NIH Drug Discovery and Experimental Pharmacology Study Section, and the WHYY Scientific Advisory Committee.
W. Gregory Feero, M.D., Ph.D., is special advisor to the director for genomic medicine at the National Human Genome Research Institute. Dr. Feero obtained his M.D./Ph.D. from the University of Pittsburgh School of Medicine with a Ph.D. in human genetics. He then completed his residency in family medicine at the Maine–Dartmouth Family Medi-
cine Residency Program in Augusta, Maine. Dr. Feero sees patients at the Maine–Dartmouth Family Practice Residency Program, a residency site where he is an associate professor in the Department of Community and Family Medicine at Dartmouth Medical School. Dr. Feero is board certified in family medicine and holds licenses in Maine and West Virginia. He has authored numerous peer-reviewed and invited publications.
Henry (Hank) T. Greely, J.D., is the Deane F. and Kate Edelman Johnson Professor of Law and professor, by courtesy, of genetics at Stanford University. He specializes in ethical, legal, and social issues arising from advances in the biosciences, including genetics, neuroscience, and human stem cell research, among other things. He chairs the California Advisory Committee on Human Stem Cell Research and the steering committee of the Stanford University Center for Biomedical Ethics and directs the Stanford Center for Law and the Biosciences. From 2007 to 2010 he was a codirector of the Law and Neuroscience Project. In 2006 he was elected a fellow of the American Association for Advancement of Science. He graduated from Stanford in 1974 and from Yale Law School in 1977. He served as a law clerk for Judge John Minor Wisdom on the U.S. Court of Appeals and for Justice Potter Stewart of the U.S. Supreme Court. After working during the Carter Administration in the departments of defense and energy, he entered private practice in Los Angeles in 1981 as a litigator with the law firm of Tuttle & Taylor, Inc. He began teaching at Stanford in 1985.
Madhuri Hegde, Ph.D., FACMG, is an associate professor and scientific director at the Emory Genetics Laboratory and senior director of the Molecular Laboratory at the Emory University School of Medicine. Her areas of specialty and interest are muscular dystrophy, mental retardation, and novel and high-throughput methodologies to detect sequence variation. The focus of her laboratory is to develop and perform comprehensive mutation analysis and interpretation for complex or challenging genetic disorders using multiple approaches. The primary focus of her clinical work is the development of high-throughput sequencing strategies for rare disorders using sequence-capture technologies, robotics, next-generation sequencing, oligonucleotide array platforms, predictive analysis tools, and biological testing. Her research is focused on the functional analysis of sequence variants in disease-associated genes, specifically mental retardation and muscular dystrophy, and translating what is learned in the basic research laboratory to clinical practice. The ultimate goal is to create an algorithm that will be clinically useful for interpretation of novel sequence variants. She is also interested in identifying novel genes in these diseases using next-generation tools and a laboratory-developed bridged approach to whole-exome sequencing. An understanding of the important changes
will eventually provide an opportunity to improve early detection of disease and to target more effective treatment. 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 did postdoctoral studies at the Baylor College of Medicine and is board certified in clinical molecular genetics.
Muin Khoury, M.D., Ph.D., is the first director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). The office was formed in 1997 to assess the impact of advances in human genetics and the Human Genome Project on public health and disease prevention. CDC’s National Office of Public Health Genomics serves as the national focus for integrating genomics into public health research and programs for disease prevention and health promotion. Dr. Khoury joined the CDC as an epidemic intelligence service officer in 1980 in the Birth Defects and Genetic Diseases Branch and served as a medical epidemiologist in 1987. In 1990 he became deputy chief of the same branch. In 1996 Dr. Khoury chaired a CDC-wide Task Force on Genetics and Disease Prevention and provided important leadership in outlining a plan delineating the future direction that the CDC should take in this important area. Dr. Khoury received his B.S. degree in biology/chemistry from the American University of Beirut, Lebanon, and his medical degree and pediatrics training from the same institution. He received a Ph.D. in human genetics/ genetic epidemiology and training in medical genetics from Johns Hopkins University. Dr. Khoury is board certified in medical genetics. Dr. Khoury has published extensively in the fields of genetic epidemiology and public health genetics and is a member of many professional societies and serves on the editorial boards of several journals. He is an adjunct professor of epidemiology at Emory University’s School of Public Health and an associate in the Department of Epidemiology at Johns Hopkins University Bloomberg School of Public Health.
Bruce R. Korf, M.D., Ph.D., received his M.D. degree from Cornell University Medical College and his Ph.D. degree in genetics and cell biology from Rockefeller University. He then completed training in pediatrics, pediatric neurology, and genetics at Children’s Hospital, Boston. He served as clinical director in the Division of Genetics at Children’s Hospital from 1986 to 1999 and as medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. Currently he holds the Wayne H. and Sara Crews Finley Chair in Medical Genetics and is professor and chair, Department of Genetics, and director, Heflin Center for Genomic Sciences, at the University of Alabama at Birmingham. He is the author of Human Genetics: A Problem-Based Approach, published by Blackwell Science and currently in its third edition. He is also coauthor of Medical Genetics at a
Glance, coeditor of the fifth edition of Emery and Rimoins Principles and Practice of Medical Genetics, and coeditor of Current Protocols in Human Genetics. He is immediate past president of the American College of Medical Genetics and a member of the Board of Scientific Counselors of the National Human Genome Research Institute. He has served as president of the Association of Professors of Human and Medical Genetics, as a member of the boards of directors of the American College of Medical Genetics and the American Society of Human Genetics, as a member of the Liaison Committee on Medical Education, and as a member of the National Cancer Institute Board of Scientific Counselors.
Debra Leonard, M.D., Ph.D., received her M.D. and Ph.D. from the New York University School of Medicine and is currently professor and vice chair for laboratory medicine in the Department of Pathology and Laboratory Medicine as well as director of the clinical laboratories for New York–Presbyterian Hospital’s Cornell campus (NYPH–WCMC). She is also director of the Pathology Residency Training Program at NYPH–WCMC. Dr. Leonard was previously director of molecular pathology at the University of Pennsylvania School of Medicine and is a nationally recognized expert in molecular pathology. She has served on several national committees that develop policy for the use of genetic and genomic technologies and information, including most recently the Secretary’s Advisory Committee on Genetics, Health, and Society that advises the Secretary of Health and Human Services. Dr. Leonard is editor of two molecular pathology textbooks and has spoken widely on various molecular pathology test services, the future of molecular pathology, and the impact of gene patents on molecular pathology practice. Dr. Leonard is interested in the use of genomic technologies in the practice of medicine to improve patient outcomes.
Federico A. Monzon, M.D., is an associate professor of pathology at Weill Cornell Medical College and a molecular pathologist at the Department of Pathology and Laboratory Medicine in the Methodist Hospital. He is director of the research pathology and molecular diagnostics cores at the Methodist Hospital Research Institute. He is a board-certified AP/CP pathologist with subspecialty training in molecular diagnostics. He received his M.D. from the National University in Mexico City and spent several years conducting basic research at the Instituto Nacional de Cancerología in Mexico City and at the University of Pennsylvania in Philadelphia. He completed his AP/CP residency training at Thomas Jefferson University Hospital in Philadelphia and his molecular genetic pathology subspecialty training at the University of Pittsburgh. He has a broad background in molecular diagnostics and pathology informatics and significant experience in the translation of novel technologies into clinical genomic tests such as
a microarray-based clinical assay for the diagnosis of tumors of unknown origin and array-based karyotyping for solid tumors. He is engaged in research projects that involve the application of genomic knowledge as a clinical tool. His main research focus is the translation of genomic information into clinical tools for the molecular classification of human tumors in general and, in particular, in renal cell carcinoma.
Robert L. Nussbaum, M.D., is chief of the Division of Medical Genetics in the Department of Medicine and is a faculty member in the Institute of Human Genetics at the University of California, San Francisco. His research efforts focus on three main areas: (1) an investigation of the genetic contribution to Parkinson’s disease; (2) a longstanding effort to understand the rare X-linked disease known as the oculocerebrorenal syndrome of Lowe, characterized by congenital cataracts, Fanconi syndrome of the renal proximal tubules, neurological dysfunction, and developmental delay; and (3) a translational research effort to assess the value of “personalized medicine,” the application of genetic and genomic approaches to improving patient care. Dr. Nussbaum seeks to evaluate if and how genetic and genomic information about an individual can be used effectively to improve health care by improving outcomes, reducing adverse reactions, lowering costs, and promoting health through risk education. Dr. Nussbaum is seeking to develop collaborative research efforts with clinician-researchers interested in studying how applying genomics can improve patient care.
Heidi L. Rehm, Ph.D., FACMG, is a board-certified clinical molecular geneticist at Partners HealthCare and an assistant professor of pathology at Harvard Medical School. Her graduate degree in genetics is from Harvard University, and her postdoctoral and fellowship training was at Harvard Medical School. She was recruited in 2001 to build the CLIA-certified Laboratory for Molecular Medicine at the Partners HealthCare Center for Personalized Genetic Medicine and now serves as the lab’s director. The lab focuses on the rapid translation of new genetic discoveries into clinical tests that can be used to improve patient outcomes, supporting the model of personalized medicine. The lab also focuses on bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. Dr. Rehm also directs the clinical molecular genetics training program at Harvard Medical School and conducts research in hearing loss, Usher syndrome, and cardiomyopathy.
Mary V. Relling, Pharm.D., earned her B.S. degree from the University of Arizona College of Pharmacy and her doctoral degree from the University of Utah College of Pharmacy. She came to St. Jude Children’s Research Hospital in 1985 as a research fellow and in 2003 was named chair of the
Department of Pharmaceutical Sciences. She is also a professor at the University of Tennessee in the Colleges of Medicine and Pharmacy and an active member of the children’s oncology group at the National Cancer Institute (NCI). Her primary interests are in anti-neoplastic pharmacokinetics and pharmacodynamics in children, pharmacogenetics of anti-leukemic therapy, and host- and treatment-related risk factors for adverse effects and secondary malignancies. Dr. Relling is one of the principal investigators within the Pharmacogenomics Research Network. The impetus for her research is the need to improve drug therapy of childhood leukemia by better understanding the contributions of and mechanisms underlying interindividual differences in pharmacokinetics and pharmacodynamics. Using currently available medications, acute lymphoblastic leukemia (ALL) is cured in the great majority of children. Her objectives are to increase the cure rate for ALL while decreasing the risk of serious adverse effects of therapy. Her pharmacogenetic, pharmacokinetic, and pharmacodynamic research is tightly integrated into clinical protocols for ALL and involves collaborations with several laboratory, translational, and clinical investigators at St. Jude and within the NCI children’s oncology group. She has published over 200 original scientific manuscripts. She is a frequent national and international guest lecturer and has served and chaired national committees for such prestigious organizations as the American Association for Cancer Research, the Center for Drug Evaluation and Research at the U.S. Food and Drug Administration, and the National Institutes of Health. She was elected to the Institute of Medicine in 2009.
Nicholas J. Schork, Ph.D., is director of bioinformatics and biostatistics at the Scripps Translational Science Institute, director of research at Scripps Genomic Medicine, and a professor in the Department of Molecular and Experimental Medicine at the Scripps Research Institute. His interest and expertise are in quantitative human genetics and genomics, especially the design and implementation of methodologies to dissect the genetic basis of complex traits and diseases. He has published over 250 scientific articles and book chapters on the analysis of complex multifactorial traits and diseases. Prior to joining Scripps in 2007, he served for 7 years as a professor of biostatistics and psychiatry and as codirector of the Center for Human Genetics and Genomics at the University of California, San Diego. From 1994 to 2000 he was an associate professor of epidemiology and biostatistics at Case Western Reserve University in Cleveland, Ohio, and an associate professor of biostatistics at Harvard University. During 1999 and 2000 he took a leave of absence to conduct research as the vice president of statistical genomics at the French biotechnology company Genset, where he helped guide efforts to construct the first high-density map of the human genome. A member of several scientific journal editorial boards, Dr. Schork
is a frequent participant in National Institutes of Health–related steering committees and review boards and has served on the advisory board of five companies. In addition, he is currently director of the Bioinformatics and Biostatistics Core of the National Institute on Aging–sponsored Longevity Consortium and a member of the Genetic Association Information Network data analysis committee of the National Human Genome Research Institute. Dr. Schork earned a B.A. in philosophy, an M.A. in philosophy, an M.A. in statistics, and a Ph.D. in epidemiology, all at the University of Michigan in Ann Arbor.
Robert H. Shelton, M.B.A., is chairman and chief executive officer of Private Access, Inc. Drawing on his varied experiences in heading a national non-profit disease advocacy group and in health care information systems, as an inventor, serial entrepreneur, and parent of a child who was pre natally diagnosed with a rare genetic condition, Mr. Shelton founded Private Access in late 2006 based on a unique vision for how to simultaneously improve patient privacy while making it possible to achieve better accessibility to sensitive and confidential information. In 2009 Private Access won the Hot Product Award from the Towards an Electronic Patient Record trade show and was selected by Forbes as No. 12 on the list of America’s Most Promising Companies. Mr. Shelton was named by Healthspottr as No. 86 on its list of the top 100 persons in health care. He has testified on cutting-edge technologies for consumer choice before numerous public and private groups, including the the Privacy & Security Tiger Team appointed by the Office of the National Coordinator for Health Information Technology; the Secretary’s Advisory Committee on Genetics, Health, and Society and the International Association of Privacy Professionals regarding how enabling patients with the appropriate technology to control who can and cannot access their confidential information will build greater trust in the system and result in accelerating important medical research; and the Present and Future of Personalized Medicine Policy Forum hosted by 23andMe, Inc. In addition to Private Access, Mr. Shelton is a director and for 7 years formerly served as chairman of KS&A, a national 501(c)(3) group serving several genetics-based conditions. He holds an undergraduate degree in public and international affairs from George Washington University and an M.B.A. from the University of Texas at Austin. Mr. Shelton has been awarded four U.S. patents and is a named inventor on numerous other pending patent applications.
Martha Turner, Ph.D., R.N., B.C., C.N.A.A., is currently assistant director of the American Nurses Association (ANA) Center for Ethics and Human Rights and an adjunct professor in the Department of Preventive Medicine and Biometrics, School of Medicine, Uniformed Services Uni-
versity (USU). She is codirector and lecturer for the public health ethics course (PMO 991). A recently retired Air Force colonel, Dr. Turner was the consultant for health care ethics to the Air Force Surgeon General from 1998 until 2006. She represented the U.S. Department of Defense as an ex-officio member of the Secretary’s Advisory Committee for Genetics, Health, and Society (SACGHS). During her 3 years with SACGHS, she became familiar with challenges associated with the development of new technologies and other scientific advances in genetics and genomics. On behalf of the ANA, she reviewed and submitted comments on drafts of the reports, Policy Issues Associated with Undertaking a Large U.S. Population Cohort Project on Genes, Environment, and Disease (2006) and Realizing the Promise of Pharmacogenomics: Opportunities and Challenges (2007). Her understanding of the challenges and opportunities for health professionals is demonstrated by her experience at the USU, where she teaches applied ethics courses in the M.P.H. and Ph.D./Dr.P.H. programs. Additional activities have included membership on the TriService Nursing Research Program Advisory Council, various scientific review panels, the editorial board for the Journal of Nursing Staff Development, and the USU Institutional Review Board. Her research, projects, and policy work have addressed pain management, end-of-life care, air evacuation of patients, care of those imprisoned, and other topics related to health care delivery in diverse environments. Dr. Turner has been participating on behalf of ANA at ASBH, NCHPEG, and International Society of Nurses in Genetics meetings. Additionally, she has been collaborating with a national work group in planning and strategizing on implementation of the nursing core competencies approved and endorsed by the national nursing community.
Michael S. Watson, Ph.D., received his Ph.D. in physiology and biophysics from the University of Alabama at Birmingham while focusing on human medical genetics and received his postdoctoral training in the Medical Genetics Training Program at Yale University School of Medicine, where he was the associate director of clinical cytogenetics. He was director of clinical and molecular cytogenetics at Washington University School of Medicine in St. Louis and professor of pediatrics and genetics from 1986 to 2001 and is certified by the American Board of Medical Genetics (ABMG) in clinical cytogenetics and as a Ph.D. medical geneticist. He served on the board of directors of the American College of Medical Genetics (ACMG) (1992–1998) and was vice president for laboratory affairs, chair of the Laboratory Practice Committee, and cochair of the Test and Technology Transfer Committee. He chaired the ACMG Economics Committee and the Intellectual Property Subcommittee. He was cochair of the NIH/ Department of Energy Task Force on Genetic Testing from 1995 through 1997. He cochaired the Rare Diseases Subcommittee of the Secretary’s
Advisory Committee on Genetic Testing of HHS from 2000 to 2002. He directed the HRSA-funded project “Newborn Screening: Toward a Uniform Screening Panel and System” from 2002 through 2005. He is director of the National Coordinating Center for Regional Genetics and Newborn Screening Collaborative Groups. As of 2001 he became an adjunct professor of pediatrics at Washington University School of Medicine and executive director of both ACMG and the ACMG Foundation.
Catherine A. Wicklund, M.S., CGC, is director of the Graduate Program in Genetic Counseling at Northwestern University and an associate professor in the Department of Obstetrics and Gynecology. She received her master’s in genetic counseling from the University of Texas Graduate School of Biomedical Sciences. She has 15 years of experience in clinical genetic counseling and has provided prenatal and pediatric genetic services. She codirected the Graduate Program in Genetic Counseling at the University of Texas before she joined Northwestern. While she was at the University of Texas, she was also director of Genetic Counseling Services in the Department of Obstetrics, Gynecology and Reproductive Medicine. She served on the board of directors of the National Society of Genetic Counselors (NSGC) first as Region V Representative, then as secretary, and then as president in 2008. As a leader in NSGC she has represented the organization at several national committees, including the Secretary’s Advisory Committee on Genetics, Health, and Society. She is also active on a state level and is working with the Illinois Department of Public Health on genetics education and finance and reimbursement issues and is on the Genetic and Metabolic Diseases Advisory Committee.
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