Center Faculty
Please click on a name below to view that person's profile.
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Lynn Bry, M.D., Ph.D.Assistant Professor of Pathology, HMS Lynn Bry, M.D., Ph.D. is the Principal Investigator and Director of the Partners Biorepository for Medical Discovery (PBMD) at the Brigham and Women’s Hospital (BWH) where she is also the Director of the Specimen Bank. The PBMD is consenting patients at two Partners Healthcare institutions, BWH and MGH, to enable studies furthering biomarker development and validation for personalized medicine. Dr. Bry is an Assistant Professor of Pathology at Harvard Medical School and an Associate Medical Director in the Department of Pathology at BWH. She directs the Crimson Project (http://www.crimsonproject.org/) that has developed IT tools and infrastructure to support high-throughput and sample collection that occurs in a cost-effective and IRB-compliant manner. Working with i2b2 (Informatics for Integrating Biology with the Bedside, https://www.i2b2.org), an NIH-funded National Center for Biomedical Computing, Crimson has enabled many large-scale genomic studies by supplying tens of thousands of phenotyped samples at a fraction of the costs commonly incurred to obtain adequate materials. Dr. Bry is a Board-certified pathologist and specializes in clinical laboratory testing in molecular diagnostics, microbiology and immunology. She routinely works with research groups to develop novel markers into diagnostic assays that can be run on platforms used in clinical laboratories. She also maintains an NIH-funded research laboratory, studying host-pathogen-commensal interactions in the gut. |
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Immaculata de Vivo, M.P.H., Ph.D.Associate Professor of Medicine, HMS Immaculata de Vivo, M.P.H., Ph.D. is Director of the Dana-Farber/Harvard Cancer Center (DF/HCC) High-Throughput Taqman Genotyping Facility that is operated under Partners HealthCare Center for Personalized Genetic Medicine (PCPGM). Her research focuses on the discovery and characterization of genetic biological markers to assess disease susceptibility in human populations. Biological markers of interest include single nucleotide polymorphisms (SNPs), telomere length, and gene copy number variations (CNVs). The goal of Dr. De Vivo's research is to bolster understanding cancer etiology, specifically understanding the relationship between genetic variation and disease risk for future prevention. Dr. De Vivo has analyzed samples from the participants of the Nurses Health Study, the Health Professional Follow-up Study (HPFS), Women's Health Study (WHS), and the National Institutes of Health PLCO cohort. Additionally, she has evaluated participants from established case-control studies to determine genetic susceptibility to multiple primary cancers, breast cancer, ovarian cancer, infertility, bladder cancer and endometrial cancer. |
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Mason Freeman, M.D.Professor of Medicine, HMS Mason Freeman, M.D. is Chief of the Lipid Metabolism Unit at Massachusetts General Hospital, Harvard Medical School. He serves as Faculty advisor to PCPGM. He founded and still directs the Lipid Clinic at MGH, where he researches treating lipid metabolism disorders. Dr. Freeman has spent the past twenty years studying the trafficking of cholesterol into and out of macrophages. While at Novartis Institutes for Biomedical Research, Freeman and his translational medicine team was responsible for designing the early development programs for drugs affecting hypertension, diabetes, obesity, atherosclerosis and lipid disorders. His lab has also made contributions to our understanding of reverse cholesterol transport via its work on the topology and biochemistry of the ABCA1 transporter, mutations in which cause Tangier disease. In the last two years, the lab has expanded its interest to the other transporters, all of which appear to play a role in cellular lipid trafficking. |
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Birgit Funke, Ph.D., FACMGInstructor in Pathology, HMS Birgit Funke, Ph.D., FACMG is an Associate Laboratory Director of the Laboratory for Molecular Medicine (LMM) at PCPGM and is an Instructor in Pathology at Harvard Medical School. She currently oversees genetic testing and test development in the area of cardiovascular disease at the LMM. She has authored and co-authored many publications focusing on a wide array of topics, most recently incentive learning and memory in mice. Currently, Dr. Funke focuses on genetic testing with emphasis on genetically heterogeneous cardiovascular diseases, with the goal of defining the genetic basis for these disorders and developing comprehensive tests using new emerging molecular technologies. In addition, she is interested in developing genetic tests for common, complex disorders, working to understand the genetic variants that have been linked with psychotic and affective disorders. |
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Robert Green, M.D., M.P.H.Associate Professor of Medicine Division of Genetics, Brigham and Women’s Hospital and HMS
Robert C. Green, MD, MPH is Associate Director of Medicine in the Division of Genetics at Brigham and Women’s Hospital and Harvard Medical School and Associate Director for Research at the Partners HealthCare Center for Personalized Genetic Medicine. His research interests are in developing a national research agenda for translational genomics and personalized medicine. He is a member of the Informed Consent Oversight Boards for the Gene Partnership Project at Children’s Hospital Boston and for the Coriell Personalized Medicine Collaborative. He serves on a number of advisory, editorial and grant review boards and is an appointed member of the NHGRI study section on ELSI and Human Genetics. He has participated in NIH planning workshops on the future of genomic medicine and has been a featured or plenary speaker on translational genomics and personalized medicine at meetings of the World Science Festival, the National Coalition of Health Care Professionals for Education in Genetics, the American Academy of Neurology, the World Congress on Psychiatric Genetics, the American Society for Human Genetics, the National Press Club and the Bio IT World Conference. Dr. Green graduated from Amherst College and the University of Virginia School of Medicine before fulfilling a residency in neurology at Harvard Medical School's Longwood Neurology Program. Following this, he completed research fellowships at the Beth Israel Hospital and Children's Hospital in Boston, winning both the William B. Lennox Research Fellowship and the Wilder Penfield Research Fellowship. Dr. Green obtained additional training in Epidemiology, receiving a Masters in Public Health from the Rollins School of Public Health at Emory University. In 1999, Dr. Green joined the faculty of Boston University where he was Professor of Neurology, Genetics and Epidemiology at Boston University Schools of Medicine and Public Health and before being recruited to BWH and HMS in 2011. Dr. Green completed a fellowship in genetics at Harvard Medical School in 2011 and is currently board eligible. |
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Anthony John Iafrate, M.D., Ph.D.Assistant Professor of Pathology, HMS Anthony John Iafrate, M.D., Ph.D. is an Assistant Professor in Pathology at Harvard Medical School and an Assistant Pathologist at Massachusetts General Hospital. Dr. Iafrate serves as Faculty advisor to PCPGM. His practice specializes in adult medicine, especially in anatomic and molecular genetic pathology. He has contributed to numerous research publications, focusing on the EGFR gene and its link to non-small-cell and circulating lung cancer along with its resistance to treatment, the clinical features of patients with non-small-cell lung cancer, and the overall genetic link to lung cancer, which is where his research interest is greatest. Much of his work with the EGFR gene has been published in the New England Journal of Medicine and his work has been cited over 1000 times by other researchers. Iafrate has also worked on the human genome, detecting large-scale variations. |
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Mira Irons, M.D.Associate Professor of Pediatrics, HMS Mira Irons, M.D., has been the Program Director of the Harvard Medical School Genetics Training Program since 2004. She currently serves as Associate Chief of the Division of Genetics and the Chief of Clinical Programs in the Division of Genetics at Children’s Hospital Boston. In this capacity, she oversees all clinical operations of the Division, including the clinical programs in Genetics and Metabolism at the Longwood campus as well as the Children's Hospital satellites. Dr. Irons has a busy clinical practice as the Director of the Neurofibromatosis Program and also sees patients in her general Genetics clinic, both at the Longwood campus and at the South Shore satellite office. Dr. Irons serves on numerous national medical committees. The programs she oversees provide residency training for medical genetics, as well as postgraduate training in the laboratory specialties of clinical cytogenetics, molecular genetics, and biochemical genetics. |
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Victoria Joshi, Ph.D., FACMGInstructor in Pathology, HMS Victoria Joshi, Ph.D., FACMG is an Associate Laboratory Director of the Laboratory for Molecular Medicine (LMM) at PCPGM and she is an Instructor in Molecular Pathology at Harvard Medical School. Her research is focused on the translation of human genetic variation discovery to the clinic. She is interested in heritable cancer predisposition and treatment selection in oncology based on molecular genetics. In addition, she does research on Noonan syndrome, which is caused by germline mutations in components of the RAS-MAPK pathway. She works to introduce new technologies to improve upon and reduce the cost of molecular diagnostics. She has contributed to numerous publications pertaining to her field of expertise and research interests, including with the EGFR gene and other genetic variants of lung cancer. Dr. Joshi supervises Harvard Medical School AMBG trainees during their rotations in the Laboratory for Molecular Medicine. She also teaches the Advanced Human Genetics course at the HMS Genetic Training Program that is administered by PCPGM. |
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Isaac Kohane, M.D., Ph.D.Lawrence J. Henderson Professor of Pediatrics, HMS Isaac Kohane, M.D., Ph.D. is a founder of the Center for Outcomes and Policy Research at the Dana-Farber Cancer Institute, and the founder and Associate Director for the Center for Genetic Epidemiology at Harvard Medical School. He serves as Faculty advisor to PCPGM. Dr. Kohane leads multiple collaborations at Harvard Medical School and its hospital affiliates in the use of genomics and computer science to study cancer and the development of the brain (with emphasis on autism). He has developed several computer systems to allow multiple hospital systems to be used as "living laboratories" to study the genetic basis of disease while preserving patient privacy. Dr. Kohane's research builds on his doctoral work in computer science on decision-support and subsequent research in machine-learning applied to biomedicine. Dr. Kohane has led the development of cryptographic health identification systems, automated personal health records and peer-to-peer pathology information networks. |
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Raju Kucherlapati, Ph.D.Paul C. Cabot Professor of Genetics, HMS Raju Kucherlapati, Ph.D. has contributed to several areas of research, including homologous recombination, human gene mapping, generation of physical maps of the human genome with emphasis on human chromosome 12, development of techniques to modify genes in mammalian cells and in cloning many human disease genes. He serves as Faculty advisor to PCPGM and leads the Center’s annual Personalized Medicine Conference and its annual William K. Bowes, Jr. Award in Medical Genetics. In 2001, Dr. Kucherlapati became the Paul C. Cabot Professor of Genetics and Professor of Medicine at Harvard Medical School and was the first Scientific Director of the Harvard Medical School-Partners HealthCare Center for Genetics and Genomics (HPCGG), stepping down in 2008. He is a fellow of the American Association for the Advancement of Science and a member of the Institute of Medicine of the National Academy of Sciences. Dr. Kucherlapati was a founder of Cell Genesys, Abgenix and Millennium Pharmaceuticals. He currently serves on the boards of privately held AVEO Pharmaceuticals and Enlight Biosciences. |
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David Kwiatowski, M.D., Ph.D.Professor of Medicine, HMS David Kwiakowski, M.D., Ph.D. is a Professor of Medicine at Harvard Medical School, a member of the Division of Translational Medicine, and an active member of the Brigham Thoracic Oncology Program. He serves as Faculty advisor to PCPGM. Dr. Kwiatkowski’s laboratory is supported by a dozen or more scientific researchers, many of whom move on to other established cancer centers after several years of training and research. The linchpin of Dr. Kwiatkowski’s research was the discovery of two genes (TSC1 and TSC2) that cause TS when mutated. This critical pathogenic insight led to the discovery of a new use for an old drug, Rapamycin (sirolimus), which works to block mTOR (mammalian Target Of Rapamycin). A series of Phase I Clinical Trials have shown great promise for treating patients with TS. |
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Janina A. Longtine, M.D.Associate Professor, Department of Pathology, HMS Janina Longtine, M.D., is an Associate Professor at Harvard Medical School and the Director of Molecular Diagnostics in Pathology at Brigham and Women’s Hospital. She serves as Faculty advisor to PCPGM. Dr. Longtine is also the Program Director of the Molecular Genetic Pathology Fellowship in the Harvard Medical School Genetic Training Program and is a medical and scientific advisor at the Laboratory for Molecular Medicine. Her research foci are molecular classification of tumors, particularly lymphoma and leukemia, and utilization of molecular markers for diagnosis and prognosis. Her research interests include chromosomal translocation, marker identification, leukemia, lymphoma, and myeloproliferative disorder. She practices molecular genetic pathology and anatomic pathology. She has contributed to numerous publications pertaining to cytogenetics, non-Hodgkin’s lymphoma, clonal T-cell receptor genes and their link to lymphoma, genetic mutations in colorectal cancer, and glioblastomas in adults. |
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Cynthia Morton, Ph.D.W.L. Richardson Professor of Ob/Gyn, HMS Cynthia Morton, Ph.D. is the William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology and Professor of Pathology at Harvard Medical School, and Director of Cytogenetics at Brigham and Women's Hospital. She is an Associate Director of Education for the PCPGM and is the Principal Investigator for the HMS Training Grant that supports the HMS Genetics Training Program that is administered by PCPGM. Her research interests are in molecular cytogenetics, hereditary deafness, genetics of uterine leiomyomata, hereditary hearing loss, and cytogenetic approaches to gene discovery for developmental disorders. Her full-time academic laboratory contributed to the development of diagnostic testing for chromosome studies that cross the lifespan, which include preimplantation and prenatal diagnostics, perinatal and childhood studies in the evaluation of congenital and developmental disorders, infertility and pregnancy loss studies, and cytogenetics of leukemias, lymphomas and solid tumors. Her laboratory has been a major site for training laboratory geneticists in clinical cytogenetics. |
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Soumya Raychaudhuri, M.D., Ph.D.Instructor in Medicine, HMS Soumya Raychaudhuri, M.D., Ph.D. has recently been recruited as one of our Center's new faculty members. Soumya will be an Assistant Professor in the Division of Genetics and the Division of Rheumatology, Immunology and Allergy, both within the Department of Medicine at BWH. His Ph.D. is in Biomedical Informatics and he recently completed his postdoctral training in statistical genetics under Mark Daly at the Broad Institute. He is interested in using human genetics to understand key pathogenic pathways that cause human disease, with a particular focus on rheumatoid arthritis and other autoimmune diseases. He works closely with Robert Plenge and other investigators at the Broad Institute to help identify risk variants for Rheumatoid Arthritis. He also uses methods in bioinformatics, systems biology and statistical genetics to help elucidate critical pathways that predispose humans to autoimmune disease. He has contributed to many publications and lectures at International genetics forum. He is the recipient of a K08 award from the NIH and was recognized as an American College of Rheumatology Distinguished Fellow in 2009. To learn more about his lab, you can go to the link below.http://immunogenomics.hms.harvard.edu/index.html |
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Heidi L. Rehm, Ph.D., FACMGAssistant Professor of Pathology, HMS Heidi Rehm, Ph.D. was recruited in 2001 to build the Laboratory for Molecular Medicine at PCPGM and serves as its Laboratory Director. She is a board-certified clinical molecular geneticist and Assistant Professor of Pathology at Harvard Medical School with appointments at BWH, MGH and Children’s Hospital Boston. Her undergraduate degree is from Middlebury College, her graduate degree in Genetics is from Harvard University and her postdoctoral and fellowship training was at HMS. Heidi has served as the Director of the ABMG Clinical Molecular Genetics Training Program at HMS since 2006. In addition to running the LMM and the molecular training program, she also conducts research in hearing loss, Usher syndrome, cardiomyopathy and the use of IT in enabling personalized medicine. |
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Jonathan Seidman, Ph.D.Henrietta B. and Frederick H. Bugher Professor of Genetics, HMS Jonathan Seidman, Ph.D. is Henrietta B. and Frederick H. Bugher Foundation Professor of Genetics at Harvard Medical School. He serves as Faculty advisor to PCPGM. He is interested in the molecular causes of left ventricular hypertrophy, or thickening of the heart wall. Two different types of disease-causing mutations have been identified that cause this condition in humans. One involves sarcomere protein genes, and the other involves a gene encoding an AMP kinase subunit. Mice bearing altered genes have been created to model these human conditions, and the pathways by which these mutant genes cause disease are being dissected. These studies may eventually lead to new therapies for left ventricular hypertrophy. The Seidman lab has made a murine model of this disease and demonstrated that these mutations lead to altered Ca2+ concentrations in myocytes. Ca2+ channel blockers reduce the hypertrophic response to sarcomere protein gene mutations in mice. |
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Patrick Sluss, Ph.D.Associate Professor of Pathology, HMS Patrick Sluss, Ph.D., is Associate Professor of Pathology at Harvard Medical School and Co-Director of the Partners Biorepository for Medical Discovery (PBMD) at Massachusetts General Hospital where he is the Director of Special Chemistry in the Clinical Pathology Core Laboratories and co-Director of the Clinical Laboratory Research Core facility. His research activities were focused on ovarian physiology. After completion of an NIH Fellowship in Biochemistry at Albany Medical College, Dr Sluss’ NIH funded research involved ovarian biomarker discovery and analytical method development primarily concerning ovarian peptide signaling systems. Since joining the MGH in 1991, Dr Sluss has increasingly focused on biomarker translational research, improving clinical steroid measurement technologies, and management of patient care testing. |
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Scott T. Weiss, M.D., M.S.Professor of Medicine, HMS New Research Building Dr. Weiss is the Scientific Director of the Partners HealthCare Center for Personalized Genetic Medicine (PCPGM). In this capacity he leads over 100 faculty and staff in PCPGM’s CLIA-certified Laboratory for Molecular Medicine; its research core laboratories; the Partners biobanking initiative known as the Partners Biorepository for Medical Discovery (PBMD); and educational programs for healthcare providers, investigators, and the public. Dr. Weiss is also Associate Director of Channing Laboratory in the Department of Medicine of Brigham and Women’s Hospital and Professor of Medicine at Harvard Medical School. In this capacity, he leads a 29 investigator and 110 person research group examining the environmental and genetic origins of asthma and COPD. Dr. Weiss’ initial work concerned the role of airways responsiveness and environmental tobacco smoke exposure in asthma and COPD, the effect of allergen exposure and airways responsiveness on markers of inflammation and the combined effect of these factors on the development of COPD. His recent work has focused on the genetics of asthma and on novel environmental exposures such as vitamin D and its role in asthma development. His laboratory is the only laboratory in the world that has an active NIH research program in the areas of asthma genetics, asthma pharmacogenetics, and COPD genetics. He is the principal investigator or co-investigator on six separate NHLBI-funded grants, including a MERIT award, in the area of the genetics of asthma and asthma pharmacogenetics. These grants involve several large asthma populations and three consortia projects involving investigators across the US. He is the Principal Investigator of a long standing T-32 Training grant (HL-07427) and a K-12 training grant in genetics and genomics. Dr. Weiss has had 33 trainees in the last 15 years, 31 of these trainees are still in academic medicine. He has served in an advisory capacity for NHLBI for the past 25 years. Dr. Weiss is the author of over 500 scientific publications and four books. |
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