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LAM/TSC Hormone Summit Participants Include
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| - | Eli Y. Adashi, MD |
| - | Dr. John Bissler |
| - | Dr. Myles Brown |
| - | Jennifer Cook, PhD |
| - | Ian Eslick |
| - | Justin Fallon, PhD |
| - | Geraldine Finlay, MD |
| - | Elizabeth Petri Henske, MD, PhD |
| - | Dr. David Kwiatkowski |
| - | Joel Moss |
| - | E. Kirk Neely, MD |
| - | John Nicholson, MD |
| - | Michael Nurok, MD, PhD |
| - | Gustavo Pacheco-Rodriguez, PhD |
| - | Mustafa Sahin, MD, PhD |
| - | Stewart Sell, MD |
| - | Elizabeth Thiele, MD, PhD |
| - | Cheryl Walker, PhD |
| - | Vicky Whittemore, PhD |
| - | Kari Luther Carlson * |
| - | Amy Farber, PhD * |
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RESEARCH |
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THE CAUSE |
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ABOUT US |
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NEWS CENTER |
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FEEL INSPIRED? |
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LAM/TSC Hormone Summit March 5-6, 2008
Harvard Medical School
Participant Biographies & Relevant Publications:
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Eli Y. Adashi, MD
Brown University
Providence, RI
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In 2004, Dr. Adashi assumed the position of Dean of Medicine and Biological Sciences and the Frank L. Day Professor of Biology with the Warren Alpert Medical School of Brown University.
A member of the Institute of Medicine of the National Academy of Science, a member of the Association of American Physicians and a fellow of the American Association for the Advancement of Science, Dr. Adashi has been the recipient of several academic honors and awards. A past recipient of a Research Career Development Award from the NICHD, Dr. Adashi has been continuously funded by the NIH from 1985 to 2005, most recently in the arena of ovarian genomics and gene targeting technology. In addition, Dr. Adashi served the NIH as a member of the Reproductive Sciences 5-Year Planning Forum for the NICHD (1996-97), as a member of the selection committee of The Reproductive Scientist Development Program (1988-2005) and as a member of the Reproductive Endocrinology Study Section (1988-92). Appointed by HHS Secretary, Dr. Donna Shalala, Dr. Adashi also served a 4-year term (1998-2002) with the National Advisory Council for NICHD.
Dr. Adashi has authored or co-authored over 250 peer-reviewed publications, over 120 book chapters/reviews, as well as co-edited or edited 13 books focusing on intraovarian-regulation, on reproductive medicine and on novel gene discovery.
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John J. Bissler, MD
Cincinnati Children's Hospital Medical Center
Cincinnati, OH
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Dr. John Bissler is the Clark D. West Chair in Nephrology at Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine. He cares for adult and pediatric patients with tuberous sclerosis complex and lymphangioleiomyomatosis. He has worked to improve embolytic therapy for angiomyoliomata and is the principle investigator for two pharmacological studies aimed at reducing the angiomyolipomata burden for affected patients. His laboratory is interested in the mechanisms leading to the loss of heterozygosity that leads to loss of the functional TSC1 or TSC2 allele and angiomyolipoma development.
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Myles Brown, MD
Dana Farber Cancer Institute, Harvard Medical School
Boston, MA
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Dr. Brown received his MD from Johns Hopkins University in 1982, followed by an
internal medicine residency at Brigham and Women’s Hospital and a fellowship
in medical oncology at Dana Farber Cancer Institute. He conducted postdoctoral
research at the Massachusetts Institute of Technology from 1987 to 1990. In 1989,
he joined the staff of DFCI, where his molecular studies focus on the role of
the estrogen receptor in breast cancer and the androgen receptor in prostate
cancer. Estrogen plays a critical role in the development of the normal breast
and in breast cancer. The biochemical mechanisms underlying these processes,
however, remain largely unknown. The overall aim of current research is to build
on recent advances in the molecular understanding of estrogen receptor (ER)
action to better define the role played by estrogen in the normal breast and in
breast cancer.
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Jennifer Cook, PhD
Harvard Medical School,
Dana Farber Cancer Institute
Boston, MA
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Jennifer D. Cook was born on 11 August 1973 in Bentonville, Arkansas. Jennifer did her undergraduate studies at the University of Arkansas and graduated in 2000 with a B.S. in Biology. Jennifer completed her dissertation research under the supervision of Dr. Cheryl Walker at the University of Texas, M.D. Anderson Cancer Center and was awarded her Ph.D. in Biomedical Research in 2006. Jennifer is currently a post-doctoral fellow in the laboratory of Dr. Myles Brown at the Dana Farber Cancer Institute, Harvard Medical School in Boston, Massachusetts.
Relevant Publications:
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Ian Eslick
MIT Media Lab
Cambridge, MA |
Ian Eslick is a PhD candidate at the Media Laboratory of the Massachusetts Institute of Technology. His current research areas encompass Human-Computer Interfaces, Artificial and Collective Intelligence, Visualization and Software Engineering. Ian is developing technology platforms to enable user communities to collaborate in the acquisition and analysis of complex datasets without requiring significant expertise with computers.
Prior to his doctorate program at MIT, Ian was the founding President of Silicon Spice, a telecommunications semiconductor startup incorporated in 1996. His company was acquired by Broadcom Corporation in 2000 where he continued as a Director of Software Engineering. Under the Broadcom label, the company's products became the market leader in carrier-class voice telephony with significant penetration in the US, Europe and Asia.
Ian is also an advisor to venture capital and startup companies in the semiconductor, software, and non-profit sectors. He holds over a dozen patents in semiconductor architecture, real-time software, and systems technology. |
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Justin Fallon, PhD
Brown University
Providence, RI |
Justin Fallon, Ph.D. is a Professor of Neuroscience at Brown University. He carried out his graduate work in cell biology at the University of Pennsylvania and expanded into neurobiology as a postdoctoral fellow at University College London and Stanford. His laboratory works on two genetic diseases – Duchenne Muscular Dystrophy and Fragile X Syndrome (FXS). FXS is a synaptic disease caused in part by aberrations in RNA translational regulation. FXS is also characterized by accelerated growth. Autism is a common feature in both TSC and FXS, and there is the potential that these three disorders intersect at the level of protein synthesis-dependent synaptic plasticity. The Fallon laboratory is also working to develop a novel therapy for DMD. |
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Geraldine Finlay, MD
Tufts New England Medical Center
Boston, MA |
Dr. Finlay obtained her medical degree from University College Dublin, Ireland in 1990. She received her Internal Medicine training in St Vincents University Hospital, Dublin, Ireland. She obtained her MD thesis examining the role of Matrix Metalloproteinases in pathogenesis of COPD and Emphysema from University College Dublin Ireland in 1996. She received her higher training in Pulmonary and Critical Care Medicine at Tufts-New England Medical Center, Boston, Massachusetts. She is currently an Associate Professor of Medicine at T-NEMC. As a Pulmonary and Critical Care physician, she has a strong clinical interest in Emphysema and lymphangioleiomyomatosis (LAM). She has been the recipient of the LAM Foundation Fellowship and Established Investigator awards. Dr Finlay’s basic research interests focus on the mechanisms that control cell growth in tuberin null cells. In particular, her research has focused on the signaling mechanisms employed by growth factors and estrogen that lead to smooth muscle cell proliferation in tuberin null states such as lymphangioleiomyomatosis (LAM) and therapeutic modalities that could potentially inhibit growth in tuberin null states.
- 1. The regulation of PDGF production and ERK activation by estrogen is associated with TSC-2 gene expression.
Finlay G.A., Hunter D., Walker C., Paulson K.E., Fanburg B.L. Am J Physiol, Cell Physiol 2003: 285: C409-C418.
- 2. Estrogen-induced smooth muscle cell growth is regulated by tuberin and associated with altered activation of PDGFR-beta and ERK-1/2.
Finlay, GA., York, B., Karas RH., Fanburg, BL., Zhang, HB., Kwiatkowski DJ., Noonan, DJ. J Biol Chem 2004: 279, 23114-22.
- 3. Selective inhibition of growth of Tuberous Sclerosis Complex 2 (TSC2)-null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mammalian target of rapamycin (mTOR)/S6 Kinase activity.
Geraldine A. Finlay, Amy M. Malhowski, Yingling Liu, Barry L. Fanburg, David J. Kwiatkowski and Deniz Toksoz. Cancer Res. 2007 Oct 15;67(20):9878-86.
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Elizabeth Petri Henske, MD
Fox Chase Cancer Center
Philadelphia, PA |
Medical Oncologist Elizabeth Petri Henske, MD is a Senior Member and attending physician at Fox Chase Cancer Center in Philadelphia. Her research focuses on understanding the cause and treatment of tuberous sclerosis complex (TSC), a genetic disorder that leads to benign tumors in multiple organs, and the related disorder, lymphangiomyomatosis (LAM). Her work points to a substantial overlap between the biology of cancer and TSC and suggests that certain biologic therapies being developed for cancer patients will be effective for TSC and LAM patients.
Dr. Henske graduated summa cum laude from Yale University and attended Harvard Medical School. She came to Fox Chase in 1996 after serving as assistant professor of medicine at Harvard Medical School. She was trained in Internal Medicine and Hematology-Oncology at the Massachusetts General Hospital.
She was elected to membership in the American Society for Clinical Investigation in 2005. She has received the LAM Foundation Scientific Advancement Award (2001), the Rothberg Institute for Childhood Diseases “Courage” Award (2002), the Tuberous Sclerosis Alliance’s Manuel Gomez Award for “extraordinary scientific and humanitarian efforts to find a cure for Tuberous Sclerosis” (2005), and the Medtronic Prize from the Society for Women’s Health Research (2007) for “an outstanding scientist whose work has led or will lead directly to the improvement of women’s health.”
Dr. Henske is Chairperson of the NIH “Cellular and Molecular Biology of the Kidney” study section and the DOD Neurofibromatosis Integration Panel, and Chair-elect of the Tuberous Sclerosis Alliance International Professional Advisory Board.
Relevant Publications:
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David Kwiatkowski, MD, PhD
Brigham & Women's Hospital, Harvard Medical School
Boston, MA |
Dr. David Kwiatkowski is Professor of Medicine at Harvard Medical School and Senior Physician at Brigham and Women's Hospital. He has worked on tuberous sclerosis and related conditions for 17 years, including identification of the TSC1 gene in 1997. His current research interests include the human molecular genetics of TSC, the genetic basis of LAM, signaling pathways and functions of TSC1 and TSC2, development of mouse models of TSC and LAM, and exploration of therapeutic strategies for TSC and LAM in mouse models.
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Joel Moss, MD, PhD
National Heart Lung and Blood Institute/National Institutes of Health (NHLBI/NIH)
Bethesda, MD
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Joel Moss, MD, PhD, is Chief of the Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, Maryland. He graduated from Brandeis University (1967), summa cum laude, and received M.D.- Ph.D. (Biochemistry) degrees from New York University School of Medicine (1972). Following internship and residency (medicine; Johns Hopkins), he completed post-doctoral and pulmonary fellowships (NHLBI). At the NHLBI since 1974, he has co-authored over 500 scientific papers, edited/co-authored several books, and is a co-inventor of biotechnology patents. Dr. Moss was a member of the NHLBI Institutional Review Board from 1988-2006, and Chair from 1995-2006. Subjects of his research include lymphangioleiomyomatosis (LAM), with emphasis on roles of the LAM cell and susceptibility/modifier genes on disease progression
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E. Kirk Neely, MD
Stanford University Medical Center
Stanford, CA
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E. Kirk Neely, MD, has been on faculty in the Division of Pediatric Endocrinology and Diabetes at the Stanford University Medical Center since 1992. His lab training was in the role of insulin-like growth factors in tumor cell growth. His clinical research relates to disorders of sexual development, specifically phenotypic manifestations and management of sex chromosome anomalies, hormone replacement therapy in gonadal failure, and diagnosis and therapy of precocious puberty.
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John Nicholson, MD
Tuberous Sclerosis Alliance
Silver Spring, MD
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Michael Nurok, MD, PhD
Harvard Medical School,
Brigham and Women's Hospital
Boston, MA
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Michael Nurok, MD, PhD is a founding member of the LAM Treatment Alliance. He lives in Cambridge, Massachusetts with his wife, LAM Treatment Alliance Executive Director Amy Farber, and daughter Charlotte. Dr. Nurok is a practicing Critical Care physician and Cardio-thoracic anesthesiologist at Brigham and Women’s Hospital, Harvard Medical School in Boston.
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Gustavo Pacheco-Rodriguez, PhD
National Heart, Lung, and Blood Institute/National Institutes of Heatlh (NHLBI/NIH)
Bethesda, MD
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Dr. Gustavo Pacheco-Rodriguez is currently a Staff Scientist in the Translational Medicine Branch of the National Heart, Lung, and Blood Institute (NHLBI) at the National Institutes of Health (NIH), where his biomedical research interests include human genetics, molecular aspects of protein-protein interactions, and their regulatory functions in human diseases.
A graduate of the University of North Texas Health Science Center in Fort Worth, Dr. Pacheco-Rodriguez obtained a Ph.D. in Biochemistry in 1997 where he investigated enzymatic processes involved in DNA damage and repair. He did postdoctoral research in molecular aspects of protein trafficking at the NIH from 1997 until 2001 under the mentorship of Dr. Martha Vaughan. He joined the Pulmonary-Critical Medicine Branch of the NHLBI as a Staff Scientist in 2001. He has worked in the laboratory of Dr. Joel Moss to characterize cell surface markers that aid in the identification of circulating metastatic lymphangioleiomyomatosis (LAM) cells. Currently, Dr. Pacheco-Rodriguez’s major focus is in the elucidation of molecular mechanisms that characterize the abnormal growth of smooth muscle cells as well as identification of molecules involved in metastasis.
Dr. Pacheco-Rodriguez has identified CD44v6, a hyaluronic acid receptor, as a marker for the LAM cell (Cancer Research 2007), and has contributed to the identification of circulating LAM cells in blood, urine and chyle (PNAS 2004). He has also identified a renin-angiotensin system of the LAM cells (AJRCMB 2006), and identified MCP-1 as a paracrine growth factor for TSC2 null cells (JEM 2005).
Relevant Publications:
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Mustafa Sahin, MD, PhD
Children's Hospital Boston, Harvard Medical School
Boston, MA
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As a practicing child neurologist and a broadly trained neurobiologist, Mustafa Sahin directs the Multidisciplinary Tuberous Sclerosis program at Children’s Hospital Boston. This program consists of a team of 10 physicians from seven departments dedicated to treating all aspects of Tuberous Sclerosis Complex. Dr. Sahin is also a member of the Tuberous Sclerosis Alliance Professional Advisory Board. The research in the Sahin laboratory is directed at understanding the cellular mechanisms of axon guidance and its relationship to neurological dysfunction. Recent areas of interest include roots of autism in TSC, regulation of local protein synthesis and cellular stress pathways. Work in Dr. Sahin’s laboratory is funded by NINDS, TS Alliance, Whitehall Foundation, AAN/SMA Foundation, Hearst Foundation, National Organization of Rare Diseases (NORD) and Autism Speaks. Based on his research accomplishments, Dr. Sahin was awarded the Young Investigator Awards by the Child Neurology Society and American Academy of Neurology 2005.
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Stewart Sell, MD
Wadsworth Center and Ordway Research Institute/New York State Health Department
Albany, New York
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Elizabeth Thiele, MD, PhD
Massachusetts General Hospital,
Harvard Medical School
Boston, MA
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Elizabeth A. Thiele is Director of the Pediatric Epilepsy Program and the Director of the Carol and James Herscot Center for Tuberous Sclerosis Complex at Massachusetts General Hospital. Dr. Thiele is also Associate in Neurology and Pediatrics at Massachusetts General Hospital and Associate Professor of Neurology at Harvard Medical School. Dr. Thiele served on the Board of Directors for the TS Alliance for the last 6 years, and is also a member of the TS Alliance Professional Advisory board.
Dr. Thiele's main research interests related to Tuberous Sclerosis Complex include genotype phenotype correlation of the multisystem aspects of the disorder, as well as characterizing the natural history. Her group is particularly focused on the neurological manifestations of TSC, including epilepsy, cognition, autism and other mental health issues.
Relevant Publications:
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Cheryl Walker, PhD
University of Texas MD Anderson Cancer Center
Smithville, TX |
Dr. Cheryl Lyn Walker is the Ruth and Walter Sterling Professor of Carcinogenesis in the Department of Carcinogenesis, UT MD Anderson Cancer Center. She holds joint academic appointments in the College of Pharmacy at the University of Texas at Austin and in the College of Veterinary Medicine at Texas A&M University. She is also Director of the Genetics and Epigenetics of Early Life Exposures Focus Area for the National Institute for Environmental Health Sciences Center for Research on Environmental Disease.
Dr. Walker is currently Vice-President, Elect for the Society of Toxicology and is a member of the International Scientific Advisory Board for the Tuberous Sclerosis Alliance and the Scientific Advisory Board for the LAM Foundation. Previously, Dr. Walker has held appointments from the Department of Health and Human Services to the Board of Scientific Councilors of the National Toxicology Program and is a former Chair of the Environmental Genomics and Carcinogenesis Panel for the Congressionally mandated US-Japan Cooperative Medical Exchange Program. She is also a former member of the Board of Scientific Councilors of the National Cancer Institute and the National Academy of Sciences Committee on Emerging Issues and Data on Environmental Contaminants.
Dr. Walker's research is focused on the role of tumor suppressor genes in cancer and proliferative smooth muscle diseases including uterine leiomyoma and LAM. Her laboratory is actively investigating how signal transduction pathways, such as the PI3K pathway, become perturbed as a result of loss of function of tumor suppressor genes involved in kidney and uterine cancer including TSC-2 and PTEN. She has developed several unique animal models for studying the molecular defects that cause cancer, which are widely used for preclinical studies to identify new therapeutic interventions for several diseases, including LAM. Dr. Walker also has research interests in the area of mechanisms by which endogenous hormones and xenoestrogens in the environment promote disease.
Relevant Publications:
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Vicky Whittemore, PhD
Tuberous Sclerosis Alliance
Silver Spring, MD |
Vicky Holets Whittemore, Ph.D., is Vice President and Chief Scientific Officer at the Tuberous Sclerosis Alliance in Silver Spring, MD. Her nephew was diagnosed with Tuberous Sclerosis Complex (TSC) in 1985. Vicky and her son were diagnosed with TSC in 1990. Vicky received a B.S. in Zoology from Iowa State University in 1977 and a Ph.D. in Anatomy from the University of Minnesota in 1982. She did postdoctoral fellowships at the University of California, Irvine and the Karolinska Institute in Stockholm, and was on the faculty of University of Miami School of Medicine from 1986-1993. She served on the Board of Directors of the TS Alliance from 1987-1993, and joined the staff of the Tuberous Sclerosis Alliance in 1994 where she has worked to build the interest and support of TSC research. She is the co-editor of the third edition of Tuberous Sclerosis Complex, and is currently co-editing the fourth edition with two of her colleagues. She has authored more than 30 scientific publications. She serves on the Review Committee for the Collaboration, Education, Translational Testing (CETT) Program for the Office of Rare Diseases at the National Institutes of Health, and serves as the Vice-Chair of the Board of Directors of the National Coalition for Health Care Professional Education in Genetics (NCHPEG), and as a member of the National Advisory Council of the National Institute of Neurological Disorders and Stroke, National Institute of Health.
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Kari Luther Carlson
Tuberous Sclerosis Alliance
Silver Spring, MD
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Kari Luther Carlson was formerly Executive Vice President at the Tuberous Sclerosis Alliance and has been with the organization since June 2001. She previously oversaw the national volunteer outreach program and was responsible for fund development. During her tenure, Carlson developed and implemented a vast national network of more than 30 volunteer branches called Community Alliances; increased volunteer participation from 90 individuals to more than 2,000; and through her involvement in special events and major gift fundraising, helped increase the annual revenue from $2.6 million to $4.5 million-plus today.
Carlson has been involved in nonprofit fundraising and volunteer management for the past 17 years. Previously, she served as a Regional Director for International Service Agencies, where she developed the Midwest regional volunteer program while raising $1.3 million in revenue. She was also the Manager of Corporate and Foundation Relations at American Refugee Committee in Minneapolis, where she was responsible for major gift development, special event corporate sponsorship and volunteer coordination.
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Amy Farber, PhD
LAM Treatment Alliance, Harvard Medical School
Cambridge, MA |
Amy is the founder and Executive Director of the LAM Treatment Alliance. She was diagnosed with LAM in April of 2005, and founded the LAM Treatment Alliance with the goal of fast tracking research to find a treatment for LAM. Amy is trained as a social scientist focused on the study of medicine/science, the law and society. She received her BA in political science from U.C. Berkeley and her PhD from Harvard University. She has completed a Fellowship in Medical Ethics at Harvard Medical School. She is currently an Instructor in the Department of Social Medicine at Harvard Medical School. Amy lives in Cambridge, MA with her husband, Michael Nurok, and their daughter Charlotte. |
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