Christopher D. Anderson, MD, MMSc
Associate Neurologist, Massachusetts General Hospital
Associate Professor of Neurology, Harvard Medical School
Dr. Anderson is a Neurocritical Care physician with research expertise in the medical genetics of complex diseases, specifically ischemic and hemorrhagic stroke. His career research goal is to use computational, genetic, and epidemiologic tools to derive new information about the mechanisms underlying cerebrovascular disease, and to use this information to drive improvement in stroke care through the identification of novel treatment targets and implementation of precision strategies for primary and secondary prevention.
Christopher D. Anderson, MD, MMSc
Associate Professor of Neurology, Harvard Medical School
Priscilla Brastianos, MD
Director of Central Nervous System Metastasis Center, Massachusetts General Hospital
Dr. Brastianos is the director of the Central Nervous System Metastasis Center at Massachusetts General Hospital and leads an R01-funded laboratory. Dr. Brastianos’ research focuses on understanding the molecular mechanisms that drive primary and metastatic brain tumors. Her lab has discovered novel molecular drivers and clinically actionable mutations in a number of brain tumors including meningiomas, craniopharyngiomas and brain metastases. With the use of genomics, single cell transcriptomics, and in vitro and in vivo assays of metastasis, her lab characterizes evolutionary patterns that drive metastatic brain tumors with the goal to identify why cancers spread to and grow within the brain. She has translated her scientific findings to national multicenter trials. Tissue samples from these trials are characterized using a number of techniques to identify biomarkers of response and resistance to therapy. She also leads a multidisciplinary central nervous system metastasis clinic at Massachusetts General Hospital/Harvard Medical School. She has received a number of awards for her work including a ‘NextGen Star’ award by the American Association for Cancer Research, a Damon Runyon Clinical Investigator Award, a Breast Cancer Research Foundation Award, a Susan G. Komen Career Catalyst Award, the American Brain Tumor Association Joel Gingras Award, the Anne Klibanski Award for Excellence in Mentorship, the MGH Cancer Center for Research Mentorship Award, and a Harvard Medical School Class Teaching Award. She is currently the co-chair of the Alliance Neuro-oncology Committee, the NCI-sponsored cooperative group trial network.
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Priscilla Brastianos, MD
Director of Central Nervous System Metastasis Center, Massachusetts General Hospital...
Christopher Cassa
Assistant Professor of Medicine, Harvard Medical School
Christopher Cassa
Assistant Professor of Medicine
Raghu R. Chivukula, MD, PhD
Assistant Physician, Massachusetts General Hospital
Assistant Professor of Medicine, Harvard Medical School
We are currently most interested in identifying and mechanistically dissecting genetic disorders affecting the biogenesis, trafficking, and function of subcellular compartments (organelles) in specialized cells of the lungs. We aim to apply an understanding of such rare diseases both to uncover new cell biology and to develop novel therapeutic approaches which target fundamental, initiating steps in pulmonary diseases.
Raghu R. Chivukula, MD, PhD
Assistant Professor of Medicine, Harvard Medical School
Karmel Choi, PhD
Assistant Professor of Psychology, Massachusetts General Hospital
Karmel Choi, PhD
Assistant Professor of Psychology
Melina Claussnitzer, PhD
Investigator, Massachusetts General Hospital
Associate Professor of Medicine, Harvard Medical School
The Claussnitzer lab pioneers Variant-to-Function (V2F) strategies for metabolic diseases.
Melina Claussnitzer, PhD
Associate Professor of Medicine, Harvard Medical School
Susan L. Cotman, PhD
Assistant in Neuroscience, Massachusetts General Hospital
Assistant Professor of Neurology, Harvard Medical School
The Cotman laboratory’s research is focused on understanding the role of the endosomal-lysosomal system in human disease, with a particular emphasis on NCL (Batten disease), the most common cause of neurodegeneration in childhood that also more rarely affects adults.
Susan L. Cotman, PhD
Assistant Professor of Neurology, Harvard Medical School
Mark J. Daly, PhD
Chief, ATGU, Massachusetts General Hospital
Associate Professor of Medicine, Harvard Medical School
The Daly Lab focuses on computational approaches to understanding the genetics of human disease using integrative genomics approaches. The lab has extensive experience in linkage and association analysis, with a focus on developing statistical methods for the design and interpretation of association studies, and applying these approaches specifically to major common disease areas such as neuropsychiatric disease, inflammatory bowel and autoimmune diseases, and diabetes.
Mark J. Daly, PhD
Associate Professor of Medicine, Harvard Medical School
Alysa E. Doyle, PhD
Psychologist, Massachusetts General Hospital
Assistant Professor of Psychiatry, Harvard Medical School
We study neuropsychiatric illness and related outcomes across the lifespan. Our research aims to promote a better understanding of the development of neuropsychiatric illness across the lifespan by investigating risk mechanisms, phenotypic variation, and moderators of youth trajectories.
Alysa E. Doyle, PhD
Assistant Professor of Psychiatry, Harvard Medical School
Rui Duan, PhD
Assistant Professor of Biostatistics, Harvard T.H. Chan School of Public Health
Dr. Rui Duan is an Assistant Professor of Biostatistics at the Harvard T.H. Chan School of Public Health. She is also a primary faculty member at the Department of Epidemiology at Harvard T.H. Chan School of Public Health and an affiliated member of the Harvard Data Science Initiative. Before joining Harvard, she received her PhD in Biostatistics from University of Pennsylvania. Her research emphasizes the development of statistical, machine learning, and informatics methods to generate reliable real-world evidence from vast digital health-related data sets. She has developed a series of tools for analyzing and integrating large-scale biomedical data including electronic health records (EHR), biobanks, medical claims, and health surveys, important for discovering, diagnosing and predicting, and comparative effectiveness research. Her work mainly focuses on improving the generalizability and transferability of algorithms across different healthcare systems and addresses the biases caused by lack of representation of certain minority and disadvantaged populations. She develops methods to make multi-institutional collaborative learning more efficient, by designing data harmonization tools and statistical methods based on summary-level statistics with privacy protection. Her methods have been successfully implemented in large clinical research networks including OHDSI, 4CE, PCORnet, eMERGE and psycheMERGE to study pediatric Crohn’s disease, major depression, opioid use disorder, Alzheimer’s disease, and COVID-19. She was the recipient of the Harvard Chan School Dean’s Award for Scientific Advancements, the Harvard Data Science Initiative Competitive Research Award, the Institute of Mathematical Statistics New Researcher Award, and she received extramural research grants from NIH, Google, Merck, and other funders.
Rui Duan, PhD
Assistant Professor of Biostatistics, Harvard T.H. Chan School of Public...
Andrea Edlow, MD, MsC
Assistant Professor of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School
Andrea Edlow, MD, MsC
Assistant Professor of Obstetrics, Gynecology and Reproductive Biology
Florian Eichler, MD
Director, Center for Rare Neurological Diseases, Massachusetts General Hospital
Professor of Neurology, Harvard Medical School
Katherine B. Sims Chair in Neurogenetics
Our laboratory at MGH explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. To develop novel treatments, our laboratory assesses the consequences of disease causing genes.
Florian Eichler, MD
Professor of Neurology, Harvard Medical School
Keith Flaherty, MD
Director, Henri & Belinda Termeer Center for Targeted Therapy, Cancer Center, Massachusetts General Hospital
Director of Clinical Research, Cancer Center, Massachusetts General Hospital
Professor of Medicine, Harvard Medical School
Keith Flaherty, MD
Professor of Medicine, Harvard Medical School
Tian Ge, PhD
Assistant Investigator, Massachusetts General Hospital
Assistant Professor of Psychiatry, Harvard Medical School
The Ge Lab develops new computational approaches to advance precision medicine. Research in the Ge Lab broadly focuses on statistical genetics and neuroimaging genetics. We develop new statistical, computational and machine learning methods to analyze and integrate large-scale genomic, neuroimaging, behavioral and electronic health records data.
Tian Ge, PhD
Assistant Professor of Psychiatry, Harvard Medical School
Robert Green, MD, MPH
Director, Genomes2People Research Program, Brigham and Women’s Hospital
Associate Member, Broad Institute
Professor of Medicine, Harvard Medical School
Robert Green, MD, MPH
Professor of Medicine, Harvard Medical School
Anna Greka, MD, PhD
Director, Kidney Disease Initiative, Broad Institute
Associate Professor of Medicine, Harvard Medical School
Anna Greka, MD, PhD
Associate Professor of Medicine, Harvard Medical School
James F. Gusella, PhD
Research Staff, Massachusetts General Hospital
Bullard Professor of Neurogenetics in the Department of Genetics, Harvard Medical School
Dr. Gusella’s laboratory is currently pursuing collaborative studies at all stages of the genetic research cycle aimed at discovering genes that cause, predispose to or modify neurological and behavioral disorders or caused abnormal development in subjects with balanced chromosomal aberrations and developmental phenotypes, delineating mechanisms of pathogenesis and modifiers in Huntington’s disease, the neurofibromatosis, and autism and exploring the potential for mechanism-based treatments.
James F. Gusella, PhD
Bullard Professor of Neurogenetics in the Department of Genetics, Harvard...
Maria Gutierrez-Arcelus, PhD
Assistant Professor of Pediatrics, Boston Children’s Hospital
https://www.gutierrezarceluslab.com/
Maria Gutierrez-Arcelus, PhD
Assistant Professor of Pediatrics, Boston Children’s Hospital https://www.gutierrezarceluslab.com/
Stephen J. Haggarty, PhD
Associate Neuroscientist, Massachusetts General Hospital
Associate Professor of Neurology, Harvard Medical School
The Haggarty Laboratory seeks to elucidate and modulate the molecular mechanisms underlying neuroplasticity, the brain’s ability to change and reorganize its structure, function, and connections in response to various experiences and learning, for the prevention and treatment of psychiatric and neurological disorders.
Stephen J. Haggarty, PhD
Associate Professor of Neurology, Harvard Medical School
Hailiang Huang, PhD
Assistant Investigator, Massachusetts General Hospital
Assistant Professor of Medicine, Harvard Medical School
The Huang Lab develops and applies cutting-edge statistical genetics and computational techniques to understand the genetic architecture of human complex disorders, especially autoimmune and psychiatric disorders. We are especially interested in novel methods to leverage cross-ancestry genomics data for insights into the disease pathogenesis.
Hailiang Huang, PhD
Assistant Professor of Medicine, Harvard Medical School
John Iafrate, MD
Vice Chair of Academic Affairs, Pathology Department, Massachusetts General Hospital
Professor of Pathology, Harvard Medical School
Dr. Iafrate is a Professor of Pathology at Harvard Medical School, and is the Vice Chair of Pathology for Academic Affairs at the Massachusetts General Hospital (MGH). Dr. Iafrate received his MD/PhD dual degree from the State University of New York at Stony Brook in 2000 and was trained in anatomic and molecular genetic pathology at Brigham and Women’s Hospital. Dr. Iafrate is a board-certified Pathologist, and has been on staff at MGH since 2005. The CID provides rapid personalized genomic testing to help inform cancer treatment decisions for patients. His research is focused on lung and brain tumors, where he has been closely involved in the clinical development of crizotinib and companion diagnostics in ALK- and ROS1 positive lung cancers. His lab has developed several technologies for sequencing tumors, including SNaPshot and the next-generation sequencing-based Anchored Multiplex PCR, both techniques have been widely used in the molecular diagnostics community.
John Iafrate, MD
Professor of Pathology, Harvard Medical School
Konrad J. Karczewski, PhD
Assistant in Investigation, Massachusetts General Hospital
Instructor in Medicine, Harvard Medical School
Our research is focused on interpreting putative disease variants in common and rare diseases to improve our understanding of human disease and the regulation of the human genome. We do so by assembling and analyzing massive public datasets of genetic variation and functional genomics, building scalable tools and methods to keep pace with the exponential growth of these data types.
Konrad J. Karczewski, PhD
Instructor in Medicine, Harvard Medical School
Elizabeth Karlson, MD
Director of the Rheumatic Disease Epidemiology Research Program, Brigham and Women’s Hospital
Professor of Medicine, Harvard Medical School
Elizabeth Karlson, MD
Professor of Medicine, Harvard Medical School
Rakesh Karmacharya, MD, PhD
Physician Investigator, Massachusetts General Hospital
Associate Professor, Harvard Medical School
Our lab uses experimental approaches at the intersection of chemical biology, genetics and stem cell biology to investigate cellular pathways relevant to schizophrenia, bipolar disorder, autism and related neuropsychiatric disorders. We utilize complementary approaches in specific cellular subtypes and in three-dimensional cerebral organoids generated from human iPSCs. We employ a range of methods including high-content imaging to investigate synaptic biology, multi-electrode arrays to examine neuronal function along with transcriptomic, proteomic and metabolomic experiments. We seek to develop new small molecules that can modulate disease-related processes in patient-derived neurons and develop new therapeutic approaches for targeting cognitive deficits in psychiatric disorders.
Rakesh Karmacharya, MD, PhD
Associate Professor of Psychiatry, Harvard Medical School
Manolis Kellis, PhD
Professor of Computer Science and Computational Biology MIT/Broad
Our group at MIT aims to further our understanding of the human genome by computational integration of large-scale functional and comparative genomics datasets. (1) We use comparative genomics of multiple related species to recognize evolutionary signatures of protein-coding genes, RNA structures, microRNAs, regulatory motifs, and individual regulatory elements. (2) We use combinations of epigenetic modifications to define chromatin states associated with distinct functions, including promoter, enhancer, transcribed, and repressed regions, each with distinct functional properties. (3) We use dynamics of functional elements across many cell types to link regulatory regions to their target genes, predict activators and repressors, and cell type specific regulatory action. (4) We combine these evolutionary, chromatin, and activity signatures to dramatically expand the annotation of the non-coding genome, elucidate the regulatory circuitry of the human and fly genomes, and to revisit previously uncharacterized disease-associated variants, providing mechanistic insights into their likely molecular roles.
Manolis Kellis, PhD
Professor of Computer Science and Computational Biology MIT/Broad Our...
Sattar Khoshkhoo, MD
Assistant Professor of Neurology, Brigham and Women’s Hospital/Harvard Medical School
Sattar Khoshkhoo, MD is the Director of Epilepsy Genetics Program at Brigham and Women’s Hospital. The Khoshkhoo lab is interested in studying somatic genetic variation as it pertains to typical brain development as well as in neurological diseases, especially focal epilepsies. The work of the lab spans the direct investigation of the human brain tissue using single cell DNA and RNA sequencing approaches to using cells lines and model systems to probe the functional impact of somatic variants. The overarching goal of the lab is to identify new molecular targets that could be leveraged for the development of disease-modifying therapies for neurological disorders.
Sattar Khoshkhoo, MD
Assistant Professor of Neurology, Brigham and Women’s Hospital/Harvard Medical School...
Ben P. Kleinstiver, PhD
Investigator; Kayden-Lambert MGH Research Scholar 2023-2028, Massachusetts General Hospital
Assistant Professor, Harvard Medical School
The Kleinstiver lab develops genome editing technologies for research applications and for the treatment of human diseases. We develop new approaches and methods to engineer genome editing enzymes, to optimize the properties of CRISPR tools, and to add new functionalities to the editor toolbox, all with the ambition of enabling new treatments for disease.
Ben P. Kleinstiver, PhD
Assistant Professor of Pathology, Harvard Medical School
Jong-Min Lee, PhD
Associate Investigator, Massachusetts General Hospital
Associate Professor, Harvard Medical School
My lab is focused on studying underlying mechanisms and genetic modifiers of neurodegenerative diseases including Huntington’s disease to develop rational therapeutic strategies. For this, we are taking integrated approaches focusing on observations in humans. Major focus areas that are critical to understand pathogenesis and to develop therapeutic strategies include: 1) investigation of molecular mechanisms of tissue specificity, 2) identification of early molecular events, 3) discovery and functional follow-up of genetic modifiers, 4) investigation of genome instability, and 5) developing allele-specific genome editing strategies to address disease-causing mutations.
Jong-Min Lee, PhD
Associate Professor of Neurology, Harvard Medical School
Phil H. Lee, PhD
Associate Professor, Massachusetts General Hospital
Associate Professor, Harvard Medical School
We use computational and statistical approaches to understand the genetic bases of complex neuropsychiatric traits and mental disorders. Multivariate pathway analysis forms the backbone of our research on identifying disease risk genes and mechanisms. We also apply multi-modal data analysis integrating genomic and neuroimaging data.
Phil H. Lee, PhD
Associate Professor of Psychiatry, Harvard Medical School
Katherine Liao, MD, MPH
Associate Professor of Medicine, Harvard Medical School
Katherine Liao, MD, MPH
Associate Professor of Medicine, Harvard Medical School
Richard Maas, MD, PhD
Chief of the Division of Genetics, Brigham and Women’s Hospital
Professor of Medicine, Harvard Medical School
Richard Maas, MD, PhD
Professor of Medicine, Harvard Medical School
Calum MacRae, MD, PhD
Vice Chair, Scientific Innovation, Brigham and Women’s Hospital
Associate Professor, Harvard Medical School
Calum MacRae, MD, PhD
Associate Professor, Harvard Medical School
Kenneth Mandl, MD, MPH
Director, Computational Health Informatics Program (CHIP)
Donald A.B. Lindberg Professor of Pediatrics and Professor of Biomedical Informatics, Harvard Medical School
Kenneth Mandl, MD, MPH
Donald A.B. Lindberg Professor of Pediatrics and Professor of Biomedical...
Alicia Martin, PhD
Assistant Investigator, Massachusetts General Hospital
Assistant Professor, Harvard Medical School
As a population and statistical genetics lab, our research examines the role of human history in shaping global genetic and phenotypic diversity. Given vast Eurocentric study biases, we investigate the generalizability of knowledge gained from large-scale genetic studies across globally diverse populations. We are focused on ensuring that the translation of genetic technologies particularly via polygenic risk does not exacerbate health disparities induced by these study biases. Towards this end, we are developing statistical methods, community resources for genomics, and research capacity for multi-ancestry studies especially in underrepresented populations.
Alicia Martin, PhD
Assistant Professor, Harvard Medical School
Shawn Murphy, MD, PhD
Chief Research Information Officer, Partners HealthCare
Professor of Neurology and Biomedical Informatics, Harvard Medical School
Shawn Murphy, MD, PhD
Professor of Neurology and Biomedical Informatics, Harvard Medical School
Patricia L. Musolino, MD, PhD
Physician-Scientist, Massachusetts General Hospital
Associate Professor of Neurology, Harvard Medical School
The Musolino Laboratory at the Center for Genomic Medicine at Massachusetts General Hospital and Harvard Medical School is a translational neuroscience laboratory focusing on developing gene targeted therapies for inherited inborn errors of metabolism and cerebrovascular disorders that lead to stroke and leukodystrophy.
Patricia L. Musolino, MD, PhD
Associate Professor of Neurology, Harvard Medical School
Pradeep Natarajan, MD, MMSc
Director of Preventive Cardiology, Massachusetts General Hospital
Associate Professor of Medicine, Harvard Medical School
The Natarajan Lab focuses on the germline and somatic genetic drivers of human atherosclerosis applying advances in genomic profiling with concomitant methods development. The interdisciplinary group spans human genetics, computational biology, and clinical medicine. The lab spearheads and contributes to several research consortia, often spanning hundreds of investigators and millions of participants to achieve project goals.
Pradeep Natarajan, MD, MMSc
Associate Professor of Medicine, Harvard Medical School
Benjamin M. Neale, PhD
Associate Investigator, Massachusetts General Hospital
Associate Professor of Medicine, Harvard Medical School
The Neale lab focuses on uncovering the genetic risk factors of common disease, in particular through international collaboration to diversify the global representation of study participants, as well as the research community involved in such efforts. We develop statistical methods and computational tools to enable efficient and scalable analysis of the growing datasets available in genetic sequencing studies.
Benjamin M. Neale, PhD
Associate Professor of Medicine, Harvard Medical School
Anne O’Donnell-Luria, MD, PhD
Assistant Professor in Pediatrics at Harvard Medical School
Anne O’Donnell-Luria, MD, PhD, Assistant Professor in Pediatrics at HMS, is the Co-Director of the Center for Mendelian Genomics at the Broad Institute (with Drs. Rehm and Talkowski), part of the GREGoR (Genomics Research to Elucidate the Genetics of Rare Diseases) consortium, an Attending Physician in Genetics and Metabolism and Group Leader at Boston Children’s Hospital, and Associate Faculty at the Center for Genomic Medicine at Massachusetts General Hospital. She has leadership roles on the ClinGen Syndromic Disorders Gene Curation Expert Panel, NeuroDev South Africa and Kenya Project, and the Genome Aggregation Consortium (gnomAD) project. Her group is focused on novel analytic and technology approaches to improving rare disease diagnosis and gene discovery, along with understanding the mechanisms of incomplete penetrance.
Anne O’Donnell-Luria, MD, PhD
Assistant Professor in Pediatrics at Harvard Medical School Anne O’Donnell-Luria,...
Roy H. Perlis, MD
Associate Chief for Research, Department of Psychiatry, Massachusetts General Hospital
Professor of Psychiatry, Harvard Medical School
Our lab focuses on developing clinical and genomic predictors of treatment response, and on developing novel therapeutics based on cellular models of brain disease. We use cellular modeling, transcriptomics, clinical phenotyping, and small molecule screening to study psychiatric disorders including schizophrenia, bipolar disorder, and depression.
Roy H. Perlis, MD
Professor of Psychiatry, Harvard Medical School
Vijaya Ramesh, PhD
Neuroscientist, Massachusetts General Hospital
Professor of Neurology, Harvard Medical School
My lab has been primarily working on understanding the pathophysiology of two different inherited neurocutaneous syndromes, Neurofibromatosis 2 (NF2) and Tuberous Sclerosis Complex (TSC). We have collaborative studies with investigators outside MGH for these studies. We also collaborate with Dr. Xandra Breakefield and Dr. Casey Maguire labs for gene therapy studies of NF2 and TSC.
Vijaya Ramesh, PhD
Professor of Neurology, Harvard Medical School
Soumya Raychaudhuri, MD, PhD
Associate Member, Broad Institute
Professor of Medicine & Associate Professor Biomedical Informatics, Harvard Medical School
Soumya Raychaudhuri, MD, PhD
Professor of Medicine & Associate Professor Biomedical Informatics, Harvard Medical...
Heidi L. Rehm, PhD
Chief Genomics Officer, Massachusetts General Hospital
Professor of Pathology, Harvard Medical School
The Translational Genomics Group (TGG) has a mission to support the discovery of the genetic basis of rare disease and translate our work into medical practice by focusing on community-centered projects that promote collaboration, data sharing and open science. Heidi Rehm leads the TGG, with co-leadership by Anne O’Donnell-Luria for the rare disease group and Mark Daly for the gnomAD project. TGG is composed of a multidisciplinary team of researchers, clinicians, computational biologists, and software engineers. We are located at Massachusetts General Hospital and the Broad Institute of MIT and Harvard.
Heidi L. Rehm, PhD
Professor of Pathology, Harvard Medical School
Elise B. Robinson, ScD
Assistant Investigator, Massachusetts General Hospital
Assistant Professor of Psychiatry, Harvard Medical School
Our lab’s research focuses on the genetic epidemiology of behavior and cognition. We are interested in using genetic data to understand the biology of neurodevelopmental variation, and to study differences within and between neuropsychiatric disorders. The Robinson lab uses techniques from statistical genetics and epidemiology to study how common and rare genetic risk factors for severe neuropsychiatric disorders may differ and develops approaches for examining these questions in large samples.
Elise B. Robinson, ScD
Assistant Professor of Psychiatry, Harvard Medical School
Jonathan Rosand, MD, MSc
J. P. Kistler Endowed Chair in Neurology, Massachusetts General Hospital
Professor of Neurology, Harvard Medical School
The hallmark of our work is the combination of careful clinical characterization of patients with the most rigorous approaches to genetics. We work in partnership with patients and their families to understand the factors that contribute to maintaining vascular brain health across the lifespan. We are a leading contributor to the performance and analysis of high-throughput genome-wide association and sequencing studies in stroke and related traits. At our core, we serve as a training ground for outstanding scientists and clinician-scientists who go on to become world-class leaders in the field. The lab has created a legacy of multidisciplinary teams that are successfully tackling some of the most pressing challenges in brain disease. Among these teams is the International Stroke Genetics Consortium, which we founded in 2007 to bring together the world’s pre-eminent stroke investigators.
Jonathan Rosand, MD, MSc
Professor of Neurology, Harvard Medical School
Pardis Sabeti, MD, DPhil
Professor, Harvard University, Center for Systems Biology, Department of Organismic and Evolutionary Biology
Professor, Harvard School of Public Health, Department of Immunology and Infectious Disease
Dr. Pardis Sabeti is a Professor at Harvard University, the Harvard School of Public Health, the Broad Institute of Harvard and MIT, and a Howard Hughes Medical Institute Investigator. Her computational genomic lab has contributed to widely varying fields — including human evolutionary biology, viral sequencing, information theory, rural disease surveillance and education efforts in West Africa. They aim to create comprehensive approaches for detecting, containing, and treating deadly infectious diseases, including Lassa virus, Ebola virus, Zika virus, and SARS-CoV-2. She has invested in capacity building and education throughout, enabling the first diagnosis of Ebola in Sierra Leone and Nigeria, training hundreds of African scientists through summer-long educational programs, and establishing genome centers in West Africa. Dr. Sabeti completed her undergraduate degree at MIT, her graduate work at Oxford University as a Rhodes Scholar, and her medical degree summa cum laude from Harvard Medical School as a Soros Fellow. Sabeti’s awards and honors include the National Academy of Medicine member, World Economic Forum (WEF) Young Global Leader, National Geographic Emerging Explorer, the National Academy of Sciences Richard Lounsbery Award, Smithsonian American Ingenuity Award for Natural Science, TIME magazine “Person of the Year” as one of the Ebola fighters, TIME’s 100 Most Influential. She is also the host of ‘Against All Odds’ included as part of AP stats classes nationwide, a co-creator of the educational program Operation Outbreak, and is the lead singer and co-songwriter of the rock band Thousand Days.
Pardis Sabeti, MD, DPhil
Professor, Harvard University, Center for Systems Biology, Department of Organismic...
Kaitlin E. Samocha, PhD
Assistant Investigator, Massachusetts General Hospital
Our group studies patterns of rare genetic variation in large collections of human genomic data, both from patients and reference population individuals, and designs tools and methods to help interpret that variation. We are focused on moving from studying single variants at a time to understanding how they impact disease in their genomic context.
Kaitlin E. Samocha, PhD
Assistant Professor of Medicine, Massachusetts General Hospital
Richa Saxena, PhD
Professor of Anesthesia, Harvard Medical School
Richa Saxena, PhD
Professor of Anesthesia, Harvard Medical School
Jeremiah M. Scharf, MD, PhD
Physician-Scientist, Massachusetts General Hospital
Assistant Professor of Neurology, Harvard Medical School
The Scharf lab investigates the genetic and neurobiological mechanisms of Tourette Syndrome (TS) and related developmental neuropsychiatric disorders that lie at the interface between traditional concepts of neurologic and psychiatric disease, including obsessive compulsive spectrum disorders (OCD/OCSD) and attention-deficit hyperactivity disorder (ADHD). We conduct genetic and clinical research to identify both genetic and non-genetic risk factors that contribute to the predisposition of TS, ADHD, and OCD in patients and families. We hope to identify novel targets for treatment, to understand the course of TS and related conditions at a patient-specific level, and to better predict treatment response.
Jeremiah M. Scharf, MD, PhD
Assistant Professor of Neurology, Harvard Medical School
Ayellet Segrè, PhD
Assistant Professor of Ophthalmology, Harvard Medical School
Ayellet Segrè is an Assistant Professor of Ophthalmology at Massachusetts Eye and Ear (MEE), Harvard Medical School, and an Associate Member at the Center for Genomic Medicine at Massachusetts General Hospital (MGH), and at the Broad Institute. After postdoctoral training in statistical genetics of complex diseases at MGH and the Broad, she was one of the lead computational biologists for the Genotype-Tissue Expression (GTEx) project. Since 2017, at MEE, Dr. Segrè leads a research program that leverages human genetics, functional genomics, and systems biology approaches to uncover the underlying regulatory mechanisms, genes, pathways, and cell types that contribute to complex retina-related diseases, including glaucoma, age-related macular degeneration (AMD), and diabetic retinopathy, and to differential drug response. Her lab develops statistical and computational methods that integrate large-scale genome-wide association studies and genotype-phenotype biobank data with functional and single cell genomics data to address these challenges for blinding, and other common diseases. She is also spearheading efforts to create comprehensive transcriptome, genetic regulation, and chromatin accessibility maps for the human eye at both the tissue and single cell levels. She is a member of the International Glaucoma Genetics Consortium, and a co-coordinator of the Human Cell Atlas Eye Bionetwork. To learn more about her lab please visit: https://www.asegrelab.org/.
Ayellet Segrè, PhD
Assistant Professor of Ophthalmology, Harvard Medical School Ayellet Segrè is...
The Center for Genomic Medicine (CGM) comprises one of the largest and most vibrant hubs of genomic medicine research in the world. The CGM includes 46 faculty collaborating to define the ‘genomic medicine cycle’ – which envisages a genomics community seeking to advance research from basic genomics research to ultimately using genome information for diagnostics and targeted therapeutics. All of our investigators are faculty at Harvard Medical School, and many members of our community are also investigators at the Broad Institute of Harvard and MIT.
