Current Training Program Faculty

Bradley Bernstein

Categories: Training Program Faculty

Harvard Medical School: Professor, Pathology

Professor, Pathology, Harvard Medical School

Bernstein’s research focuses on epigenetics and specifically how modifications to the protein scaffold called chromatin contribute to mammalian development and human cancer. His work is notable for the identification of specialized chromatin structures that underlie stem cell pluripotency and aberrant epigenetic mechanisms that drive tumor initiation and drug resistance. Current work in the Bernstein lab spans a range of projects from technology development to cancer biology and therapeutic strategies. Key themes include: developing new technologies for mapping gene expression and chromatin modifications at the single cell and single molecule level; understanding cell fate decisions at fine resolution in development and disease; and investigating how genome and chromatin organization is aberrantly altered in cancer, and importantly, how these changes contribute to tumor biology.

Christopher Cassa

Categories: Training Program Faculty

: Assistant Professor of Medicine

Assistant Professor of Medicine, Harvard Medical School

Christopher Cassa is a computational geneticist who studies the impact of functional variation and its contribution to Mendelian disorders. Healthy individuals often carry variants in genes that have been previously associated with disease, and there is a pressing need to distinguish between variants that will lead to disorders and those that are either incompletely penetrant or false positives. His lab is focused on two major application areas: methods to assess the pathogenicity of individual genomic variants, and methods to predict the clinical impact of such variants in the context of an individual’s existing clinical and genetic risk factors. These applications draw on population scale clinical and genomic data sources, and machine learning approaches. Open to collaborative projects with other training program faculty.

Christopher Cassa

Assistant Professor of Medicine

Karmel Choi, PhD

Categories: Training Program Faculty

: Assistant Professor of Psychology

Assistant Professor of Psychology, Massachusetts General Hospital

Karmel Choi, PhD, is the Director of the Precision Prevention Program (P3) in the Center for Precision Psychiatry at the Massachusetts General Hospital. She is also a Clinical Psychologist and Assistant Professor of Psychology at Harvard Medical School. Her research program combines novel methods from statistical genetics, data science, and developmental epidemiology to understand why some individuals show resilience in the face of risk and adversity, and identify strategies for preventing stress-related disorders (e.g., depression and PTSD) using large-scale data.

Training opportunities include: statistical genetics (polygenic scores, GWAS, Mendelian randomization, GxE), machine learning/natural language processing, EHR, clinical approaches to depression and trauma, social determinants of health.

Karmel Choi, PhD

Assistant Professor of Psychology

Susan L. Cotman, PhD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Assistant Professor of Neurology

Massachusetts General Hospital: Assistant in Neuroscience

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.

Mark J. Daly, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Associate Professor of Medicine

Massachusetts General Hospital: Chief, ATGU

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.

Alysa E. Doyle, PhD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits

Harvard Medical School: Assistant Professor of Psychiatry

Massachusetts General Hospital: Psychologist

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.

Andrea Edlow, MD, MsC

Categories: Training Program Faculty

: Assistant Professor of Obstetrics, Gynecology and Reproductive Biology

Assistant Professor of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School

Dr. Andrea Edlow, MD, MSc is an Assistant Professor of Obstetrics, Gynecology and Reproductive Biology at Harvard Medical School and a Maternal-Fetal Medicine specialist at Massachusetts General Hospital. Dr Edlow’s laboratory focuses on the effects of maternal obesity and maternal immune activation on fetal brain development and offspring behavior, and how these effects are modified by fetal sex. Her lab was one of the first to use amniotic fluid supernatant and umbilical cord blood to investigate real-time fetal brain development in obese human pregnancy. Gene expression profiling of these two biofluids identified abnormal gene expression signatures in fetuses of obese women, highlighting dysregulated brain development and increased inflammation. More recently, Dr Edlow has used high-dimensional biological techniques (e.g. scRNA-seq) to investigate the brain-placenta connection and how fetoplacental immune activation may impact or predict fetal brain development.

Andrea Edlow, MD, MsC

Assistant Professor of Obstetrics, Gynecology and Reproductive Biology

Florian Eichler, MD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Function & Mechanism

Harvard Medical School: Professor of Neurology

Massachusetts General Hospital: Director, Center for Rare Neurological Diseases

Director, Center for Rare Neurological Diseases, Massachusetts General Hospital

Professor of Neurology, Harvard Medical School

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.

Patrick Ellinor, MD, PhD

Categories: Training Program Faculty

Massachusetts General Hospital: Director, Cardiac Arrhythmia Service

Broad Institute: Director of the Precision Cardiology Laboratory

Harvard Medical School: Professor of Medicine

Director, Cardiac Arrhythmia Service, Massachusetts General Hospital

Director of the Precision Cardiology Laboratory, Broad Institute

Professor of Medicine, Harvard Medical School

Dr. Ellinor’s research work has focused on identifying the molecular basis of atrial fibrillation. His research laboratories are located in the Cardiovascular Research Center at MGH and at the Broad Institute of Harvard and MIT. Dr. Ellinor currently helps to lead the AFGen Consortium, an international group of investigators studying the genetics of atrial fibrillation. Over the past 15 years, he has been continuously funded by the NIH, he has received an Established Investigator Award from the AHA, and he is a principal investigator on a Transatlantic Research Network sponsored by the Fondation Leducq. Dr. Ellinor is a member of the American Heart Association, the Heart Rhythm Society and the American Society of Clinical Investigation.

Keith Flaherty, MD

Categories: Training Program Faculty

Massachusetts General Hospital: Director, Henri & Belinda Termeer Center for Targeted Therapy, Cancer Center

Massachusetts General Hospital: Director of Clinical Research, Cancer Center

Harvard Medical School: Professor of Medicine

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

Dr. Flaherty is director, since 2012, of the Henri and Belinda Termeer Center for Targeted Therapy and, since 2014, director of Clinical Research at the Massachusetts General Hospital, and Professor of Medicine at Harvard Medical School. As described in the more than 200 peer reviewed primary research reports he has authored or co-authored, Dr. Flaherty and colleagues made several seminal observations recently that have defined the treatment of melanoma when they established the efficacy of BRAF, MEK and combined BRAF/MEK inhibition in patients with metastatic melanoma in a series of New England Journal of Medicine articles for which Dr. Flaherty was the first author. Dr. Flaherty also has been a leader in assessing and identifying mechanisms of de novo and acquired resistance to BRAF inhibitor therapy and clinically evaluating next generation inhibitors, work that has had implications for resistance to targeted therapy regimens used to treat other malignant diseases. Dr. Flaherty has received extensive NCI funding support with K12, K23, SPORE, RO1, U54 and PO1 grants. He serves as editor-in-chief of Clinical Cancer Research. He is the principal investigator of the NCI MATCH trial, the first NCI-sponsored trial assigning patients to targeted therapy independent of tumor type on the basis of DNA sequencing detection of oncogenes. He has made major commitments to ECOG as chair of the Developmental Therapeutics Committee and in 2013 was appointed as ECOG Deputy Chair for Biomarker Science.

Jose C. Florez, MD, PhD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Professor of Medicine

Massachusetts General Hospital: Chief, Endocrine Division and Diabetes Unit

Chief, Endocrine Division and Diabetes Unit, Massachusetts General Hospital

Professor of Medicine, Harvard Medical School

The Florez lab aims to unravel the genetic basis of type 2 diabetes, related metabolic traits and its vascular complications, and provide the rationale for effective, precision-tailored therapies. The overarching goal is to bring the clinical treatment of diabetes and its complications into the new paradigm of molecular medicine, using genomic, metabolomic, experimental, physiological and pharmacogenetic approaches.

Tian Ge, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Disease & Traits

Harvard Medical School: Assistant Professor of Psychiatry

Massachusetts General Hospital: Assistant Investigator

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.

Robert Green, MD, MPH

Categories: Training Program Faculty

Brigham and Women's Hospital: Director, Genomes2People Research Program

Broad Institute: Associate Member

Harvard Medical School: Professor of Medicine

Director, Genomes2People Research Program, Brigham and Women’s Hospital

Associate Member, Broad Institute

Professor of Medicine, Harvard Medical School

Robert C. Green, MD, MPH is Professor of Medicine at Harvard Medical School, and directs the Genomes2People Research Program and the Precision Population Health Initiative at Mass General Brigham, the Broad Institute, and Ariadne Labs. Originally trained as a neurologist and epidemiologist, he contributed for over a decade to the clinical characterization, treatment trial methodology, and risk refinement for Alzheimer’s disease. Since he re-trained as a medical geneticist, he conducts empirical research on the medical, behavioral, and economic outcomes around the implementation of genomic medicine. Dr. Green led the first NIH-funded trials disclosing common complex disease risk (REVEAL Study) and the first prospective study of direct-to-consumer genetic testing (PGen Study). He currently leads and co-leads the first randomized trials to explore the implementation of medical sequencing in adults (MedSeq Project) and newborns (BabySeq Project). Dr. Green currently mentors junior faculty members and postdoctoral researchers, all currently or previously funded through NIH training grants and/or early career awards, and serves as Associate Director of the T32 Training Grant in Genetics at Brigham and Women’s Hospital, as well as a mentor for several other T32 grants.

Anna Greka, MD, PhD

Categories: Training Program Faculty

Broad Institute: Director, Kidney Disease Initiative

Harvard Medical School: Associate Professor of Medicine

Director, Kidney Disease Initiative, Broad Institute

Associate Professor of Medicine, Harvard Medical School

Anna Greka is an institute member of the Broad Institute of MIT and Harvard, where she directs the institute’s Kidney Disease Initiative. Greka is a physician-scientist leading the translation of scientific discoveries from the laboratory to clinical trials. She is an associate professor at Harvard Medical School (HMS); an associate physician in the Renal Division in the Department of Medicine at Brigham and Women’s Hospital (BWH); and the founding director of Kidney-NExT, a Center for Kidney Disease and Novel Experimental Therapeutics at BWH and HMS.

James F. Gusella, PhD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Bullard Professor of Neurogenetics in the Department of Genetics

Massachusetts General Hospital: Research Staff

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...

Stephen J. Haggarty, PhD

Categories: Training Program Faculty, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Associate Professor of Neurology

Massachusetts General Hospital: Associate Neuroscientist

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.

John Iafrate, MD

Categories: Training Program Faculty

Massachusetts General Hospital: Vice Chair of Academic Affairs, Pathology Department

Harvard Medical School: Professor of Pathology

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.

Konrad J. Karczewski, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Instructor in Medicine

Massachusetts General Hospital: Assistant in Investigation

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.

Elizabeth Karlson, MD

Categories: Training Program Faculty

Brigham and Women's Hospital: Director of the Rheumatic Disease Epidemiology Research Program

Harvard Medical School: Professor of Medicine

Director of the Rheumatic Disease Epidemiology Research Program, Brigham and Women’s Hospital

Professor of Medicine, Harvard Medical School

Elizabeth W. Karlson, M.D. is Director of the Rheumatic Disease Epidemiology Research Program for the Section of Clinical Sciences, Division of Rheumatology, Allergy, and Immunology, Department of Medicine, Brigham and Women’s Hospital and a Professor of Medicine at Harvard Medical School. Dr. Karlson’s research expertise is in rheumatic disease epidemiology and outcomes, genetics, gene-environment interactions, and bioinformatics analysis of electronic health records for clinical and translational research. She is funded by the National Institutes of Health for translational epidemiology, electronic health record and bioinformatics research studies as well as Human Biosample Research Cores. She is co-Principal Investigator of the New England All of Us Research Program, and co-Principal Investigator of the Harvard eMERGE Clinical Center. She serves as Co-Director for the Partners HealthCare Biobank that aims to collect samples, family history, lifestyle and environmental survey data linked with comprehensive health information from electronic health records from 100,000 Partners HealthCare patients. She coordinates bioinformatics analyses for phenotype algorithms for the Partners Biobank Portal and eMERGE network. She has served on grant review committees for the National Institutes of Health, Arthritis Foundation, and national grant agencies in Canada and Europe. She has served on the American College of Rheumatology Blue Ribbon Panel on Academic Rheumatology. She has received the Henry Kunkel Young Investigator Award and the Excellence in Investigative Mentoring Award from the American College of Rheumatology, and the Senior Faculty Mentoring Award from the Brigham and Women’s Hospital.

Rakesh Karmacharya, MD, PhD

Categories: Training Program Faculty, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Associate Professor of Psychiatry

Massachusetts General Hospital: Physician Investigator

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

Isaac Kohane, MD, PhD

Categories: Training Program Faculty

Isaac Kohane develops and applies computational techniques to address disease at multiple scales: from whole healthcare systems as “living laboratories” to the functional genomics of neurodevelopment with a focus on autism. His research agenda has been driven by the vision of what biomedical researchers could do to find new cures, provide new diagnoses and deliver the best care available if data could be converted more rapidly to knowledge and knowledge to practice. In so doing, Dr. Kohane has designed and led multiple internationally adopted efforts to “instrument” the healthcare enterprise for discovery and to enable innovative decision-making tools to be applied to the point of care. At the same time, the new insights afforded by ’omic-scale molecular analyses have inspired him and his collaborators to work on re-characterizing and reclassifying diseases such as autism, rheumatoid arthritis and cancers. In many of these studies, the developmental trajectories of thousands of genes have been a powerful tool in unraveling complex diseases.

Isaac Kohane, MD, PhD

Isaac Kohane develops and applies computational techniques to address disease at...

Katherine Liao, MD, MPH

Categories: Training Program Faculty

Harvard Medical School: Associate Professor of Medicine

Associate Professor of Medicine, Harvard Medical School

Dr. Katherine Liao is a clinical investigator in the Division of Rheumatology, Immunology, and Allergy and Assistant Professor of Medicine and Biomedical Informatics at Harvard Medical School. She also holds a joint appointment with the Boston VA Healthcare System as part of the Massachusetts Epidemiology Research and Information Center (MAVERIC). Dr. Liao’s work integrates the disciplines of clinical epidemiology with bioinformatics, focusing on the impact of inflammation on cardiovascular outcomes, particularly in the rheumatic diseases. Her research spans patient-oriented studies to the development of approaches using natural language processing and machine learning algorithms using electronic health record data for clinical research.

Richard Maas, MD, PhD

Categories: Training Program Faculty

Brigham and Women's Hospital: Chief of the Division of Genetics

Harvard Medical School: Professor of Medicine

Chief of the Division of Genetics, Brigham and Women’s Hospital

Professor of Medicine, Harvard Medical School

Work in the Maas Laboratory focuses in two areas, both of which revolve around the problem of how vertebrate organs form. The first research area, embodied in a large, new and highly interdisciplinary research Consortium approach called SysCODE, or Systems based-Consortium for Organ Design and Engineering, is aimed at organ regeneration. The second and more long-standing research area involves mechanistic investigations into Pax and Hox genes, their respective gene networks, and the genetic control vertebrate eye, craniofacial, pancreatic and kidney development.

Calum MacRae, MD, PhD

Categories: Training Program Faculty

Brigham and Women's Hospital: Vice Chair, Scientific Innovation

Harvard Medical School: Associate Professor

Vice Chair, Scientific Innovation, Brigham and Women’s Hospital

Associate Professor, Harvard Medical School

Dr. Calum Archibald MacRae is Chief, Cardiovascular Medicine at Brigham and Women’s Hospital (BWH) and an expert member of BWH’s Cardiovascular Genetics Program, which comprehensively evaluates, diagnoses and manages care for inherited cardiac disorder patients. In addition, he is a leading investigator at the BWH Genomics Center and an associate professor of medicine at Harvard Medical School.

He received his medical degree from University of Edinburgh College of Medicine. He completed two internal medicine residency programs: one at Wellcome Trust Centre for Neuroimaging in London and the other at BWH. He then completed a fellowship in cardiovascular disease at Massachusetts General Hospital. Dr. MacRae is board certified in internal medicine and cardiovascular disease.

Dr. MacRae is a cardiologist and geneticist whose clinical interests include investigating new phenotypes and how research findings—including genomics discoveries—can be systematically implemented into clinical care. His research focuses on the biology and genomics of cardiovascular disease, specifically the biological basis of different arrhythmia susceptibilities. He holds five patents, has authored over 160 peer-reviewed publications and received research funding from the National Institutes of Health’s National Human Genome Research Institute.

Calum MacRae, MD, PhD

Associate Professor, Harvard Medical School

Kenneth Mandl, MD, MPH

Categories: Training Program Faculty

Computational Health Informatics Program (CHIP): Director

Harvard Medical School: Donald A.B. Lindberg Professor of Pediatrics and Professor of Biomedical Informatics

Director, Computational Health Informatics Program (CHIP)

Donald A.B. Lindberg Professor of Pediatrics and Professor of Biomedical Informatics, Harvard Medical School

Dr. Mandl directs CHIP (The Computational Health Informatics Program) at Boston Children’s Hospital and is the Donald A.B. Lindberg Professor of Pediatrics and Biomedical Informatics at Harvard Medical School. Mandl’s work at the intersection of population and individual health has had a unique, sustained influence on the developing field of biomedical informatics. His Presidential Early Career Award for Scientists and Engineers was for pioneering real time biosurveillance, tracking infections and detecting outbreaks with diverse data. Mandl has long advocated for patient participation in producing and accessing data. He created the first personal health systems, crowdsourced knowledge from online patient networks, and advanced participatory medicine and engagement in clinical trials. Cognizant of the limitations of extant electronic health record systems, Mandl developed a widely adopted, highly influential approach (SMART)–substitutable iPHone-like apps that run universally on health IT systems. SMART lets innovators like Apple and Google reach market scale and patients and doctors access an “app store for health.” Mandl uses his open source inventions to lead large EHR research networks–he is principal investigator of the Accessible Research Commons for Health (ARCH) network across Boston hospitals and nationally. Recognized for teaching, Mandl received the Clifford A. Barger Award for top mentors at Harvard Medical School. He was advisor to two Directors of the CDC and chaired the Board of Scientific Counselors of the NIH’s National Library of Medicine. His clinical training and experience is in pediatrics and pediatric emergency medicine. Dr. Mandl has been elected to multiple honor societies including the American Society for Clinical Investigation, Society for Pediatric Research, American College of Medical Informatics and American Pediatric Society. He is a recent recipient of the Donald A.B. Lindberg Award for Innovation in Informatics.

Kenneth Mandl, MD, MPH

Donald A.B. Lindberg Professor of Pediatrics and Professor of Biomedical...

Alicia Martin, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits

Harvard Medical School: Assistant Professor of Medicine

Massachusetts General Hospital: Assistant Investigator

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.

Vamsi K. Mootha, MD

Categories: Training Program Faculty, Variants to Function & Mechanism

Harvard Medical School: Professor of Systems Biology

Massachusetts General Hospital: Principal Investigator

Principal Investigator, Massachusetts General Hospital

Professor of Systems Biology, Harvard Medical School

The long-term goals of the Mootha Laboratory are to combine the new tools of genomics and systems biology with classic biochemistry to investigate mitochondrial bioenergetics, evolution, and disease.

Shawn Murphy, MD, PhD

Categories: Training Program Faculty

Partners HealthCare: Chief Research Information Officer

Harvard Medical School: Professor of Neurology and Biomedical Informatics

Chief Research Information Officer, Partners HealthCare

Professor of Neurology and Biomedical Informatics, Harvard Medical School

Dr. Murphy directs the team of Informatics for Integrating Biology and the Bedside (i2b2) which has allowed him to have a large impact on clinical research that makes use of data from medical records and their accompanying artifacts such as patient genomic and imaging data. He has unlocked billions of records for research both nationally and internationally by creating online, self-serve tools that connect researchers with the clinical-care data from entire enterprises. Dr. Murphy has worked to make the raw data from medical records useful by inventing new methods that establish high quality phenotypic data from these records, and utilized the resulting high-quality data in many original research studies. Much of this work is with diverse teams of medical scientists performing electronic health record (EHR)-based analysis of patient phenotypes and their association with genotypes, biomarkers, and physiologic characteristics. Dr. Murphy directs the team of Research IS and Computing at Partners HealthCare. This leverages the extensive such work he has done in the past as Director of the Research Patient Data Registry (RPDR) for Partners HealthCare System, Inc., beginning in 1999, connecting human studies investigators to vast amounts of patient clinical data. The RPDR is a large data warehouse, with 6.5 million patients and 2.2 billion rows of clinical data, serving clinical information to 1100 researchers each year. Later, as PI of the software development cores of the i2b2 grant starting in 2004, the RPDR technology was widely accepted and installed in over 120 hospitals nationally and internationally. The high throughout phenotyping and sample collection enabled by the i2b2 team, as well as many other methods they developed, resulted in nearly 50 publications by this team in the fields of depression, bipolar disease, rheumatoid disease, inflammatory bowel disease, and multiple sclerosis. He developed the ability to extend the i2b2 population analytics directly to the provider with a Strategic Health IT Advanced Research Projects (SHARP) grant from the Office of the National Coordinator, where i2b2 is extended into a national EHR infrastructure such that the integration it provides can extent into “Apps” that can run in a hospital EHR system.

Benjamin M. Neale, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Associate Professor of Medicine

Massachusetts General Hospital: Associate Investigator

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.

Christopher Newton-Cheh, MD, MPH

Categories: Training Program Faculty

Broad Institute: Associate Member

MGH Cardiovascular Research Center: Faculty

Harvard Medical School: Assistant Professor of Medicine

Associate Member, Broad Institute

Faculty, MGH Cardiovascular Research Center

Chris Newton-Cheh is a heart failure cardiologist and human geneticist. The Newton-Cheh lab studies the genetic basis of cardiovascular traits and disease, follows up genetic leads to identify previously unsuspected disease mechanisms, and tests the impact of genetics on response to drugs and environment. We are leveraging the rapid growth of human genetics to identify genetic variants that underlie hypertension, heart failure and arrhythmias, to translate genetic discoveries into an improved understanding of human physiology through clinically-focused research, and to define the role of genetics and other factors in predicting patients’ risk of disease and likelihood of a beneficial or toxic response to drug therapies.

Christopher Newton-Cheh, MD, MPH

Assistant Professor of Medicine, Harvard Medical School

Roy H. Perlis, MD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Function & Mechanism

Harvard Medical School: Professor of Psychiatry

Massachusetts General Hospital: Associate Chief for Research, Department of Psychiatry

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.

Soumya Raychaudhuri, MD, PhD

Categories: Training Program Faculty

Broad Institute: Associate Member

Harvard Medical School: Professor of Medicine & Associate Professor Biomedical Informatics

Associate Member, Broad Institute

Professor of Medicine & Associate Professor Biomedical Informatics, Harvard Medical School

Dr. Soumya Raychaudhuri is an Associate Professor at Harvard Medical School and at Brigham and Women’s Hospital. He is also appointed as an Associate Member at the Broad Institute and a Visiting Professor in Genetics at the University of Manchester. He matriculated into the Stanford University NIH funded MST program in 1997 after completing degrees in mathematics and biophysics at the University at Buffalo. In 2004, he completed both his medical training and his doctoral training in biomedical informatics. After completing his clinical training in Internal Medicine, he joined the rheumatology fellowship training program in 2006, and concurrently completed his postdoctoral fellowship training under Mark Daly at the Broad Institute. Since starting his own group in 2010 at Harvard Medical School and Brigham and Women’s Hospital, his lab has focused on finding and fine-mapping disease alleles and understanding their significance in immune-mediated diseases. He has focused on multiple diseases including rheumatoid arthritis, type I diabetes, and tuberculosis infection. He has worked on fine-mapping HLA loci, devising integrative statistical genetics strategies to identify causal variation by taking advantage of largescale epigenetic data, and integrating genetic data with functional genomics and data on human immunological phenotypes.

Soumya Raychaudhuri, MD, PhD

Professor of Medicine & Associate Professor Biomedical Informatics, Harvard Medical...

Heidi L. Rehm, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits

Harvard Medical School: Professor of Pathology

Massachusetts General Hospital: Chief Genomics Officer

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.

Elise B. Robinson, ScD

Categories: Training Program Faculty, Variants to Disease & Traits

Harvard Medical School: Assistant Professor of Psychiatry

Massachusetts General Hospital: Assistant Investigator

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.

Jonathan Rosand, MD, MSc

Categories: Training Program Faculty, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Professor of Neurology

Massachusetts General Hospital: J. P. Kistler Endowed Chair in Neurology

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.

Kaitlin E. Samocha, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits

Massachusetts General Hospital: Assistant Professor of Medicine

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

Jeremiah M. Scharf, MD, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Assistant Professor of Neurology

Massachusetts General Hospital: Physician-Scientist

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.

Susan A. Slaugenhaupt, PhD

Categories: Training Program Faculty

Mass General Research Institute: Scientific Director

Harvard Medical School: Professor of Neurology (Genetics)

Scientific Director, Mass General Research Institute

Professor of Neurology (Genetics), Harvard Medical School

My research focuses on two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), as well as the common cardiac disorder mitral valve prolapse (MVP). Our work is focused on gene discovery and therapeutic development, specifically targeting RNA splicing. My work in the Mass General Research Institute is focused on supporting investigators and promoting research at the hospital. In 2013, I was named the Elizabeth Riley and Dan E. Smith, Jr. MGH Research Scholar.

Jordan W. Smoller, MD, ScD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Professor of Psychiatry

Massachusetts General Hospital: MGH Trustees Endowed Chair in Psychiatric Neuroscience

MGH Trustees Endowed Chair in Psychiatric Neuroscience, Massachusetts General Hospital

Professor of Psychiatry, Harvard Medical School

The focus of Dr. Smoller’s research interests has been:

Understanding the genetic and environmental determinants of psychiatric disorders across the lifespan.
Integrating genomics and neuroscience to unravel how genes affect brain structure and function.
Using “big data”, including electronic health records and genomics, to advance precision medicine.

Jordan W. Smoller, MD, ScD

Professor of Psychiatry, Harvard Medical School

Alexander Soukas, MD, PhD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Function & Mechanism

Harvard Medical School: Associate Professor of Medicine

Associate Professor of Medicine, Harvard Medical School

Associate Professor of Medicine, Massachusetts General Hospital

Aging is the single, greatest contributor to nearly every disease and condition that affects us after our youth. Diabetes, obesity, heart disease, stroke, cancer, osteoporosis, and dementia are all diseases of aging. In the Soukas Laboratory, we endeavor to figure out how things go wrong in the cells of the body in aging, and more excitingly, how to fix what goes wrong. Our findings have the ability to impact not one, but nearly every disease that impacts humankind. We have the major goal of identifying molecular “switches” that can be thrown to turn back the clock on the aging process, promoting healthy aging and staving off aging-associated diseases.

Alexander Soukas, MD, PhD

Associate Professor of Medicine, Harvard Medical School

David A. Sweetser MD, PhD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Function & Mechanism

Harvard Medical School: Assistant Professor of Pediatrics

Massachusetts General Hospital: Pediatrician

Pediatrician, Massachusetts General Hospital

Assistant Professor of Pediatrics, Harvard Medical School

The Sweetser Lab has two areas of focus. One is rare disease work. Our work with the Undiagnosed Diseases Network takes a deep dive into phenotyping, evaluations, and genome sequencing, and functional characterization to identify novel genetic disorders. We also have focused projects in Pitt Hopkins syndrome, IQSEC2, and epileptic encephalopathies with Natural History studies and creating patient derived stem cell models. The second area of research seeks to characterize the leukemic stem cell niche and develop targeted cancer therapies.

Peter Szolovitis, PhD

Categories: Training Program Faculty

Massachusetts Institute of Technology: Professor of Computer Science and Engineering

Professor of Computer Science and Engineering, Massachusetts Institute of Technology

Peter Szolovits is Professor of Computer Science and Engineering and head of the Clinical Decision-Making Group within CSAIL. His research centers on the application of AI methods to problems of medical decision making and design of information systems for health care institutions and patients. He has worked on problems of diagnosis, therapy planning, execution and monitoring for various medical conditions, computational aspects of genetic counseling, controlled sharing of health information, and privacy and confidentiality issues in medical record systems.

Professor Szolovits’ interests in AI include knowledge representation, qualitative reasoning, and probabilistic inference. His interests in medical computing include Web-based heterogeneous medical record systems, life-long personal health information systems, and design of cryptographic schemes for health identifiers. He teaches classes in artificial intelligence, programming languages, medical computing, medical decision making, knowledge-based systems, computer systems engineering and probabilistic inference.

Prof. Szolovits has served on journal editorial boards and as program chairman and on the program committees of national conferences. He has been a founder of and consultant for several companies that apply AI to problems of commercial interest. He received his bachelor’s degree in physics and his PhD in information science, both from Caltech. Prof. Szolovits was elected to the National Academy of Medicine (formerly the Institute of Medicine) of the National Academies and is a Fellow of the American Association for Artificial Intelligence, the American College of Medical Informatics, and the American Institute for Medical and Biological Engineering. He recently served as a member of the National Research Council’s Computer Science and Telecommunications Board and also served as a member of the National Library of Medicine’s Biomedical Library and Informatics Review Committee.

Peter Szolovitis, PhD

Professor of Computer Science and Engineering, Massachusetts Institute of Technology

Michael E. Talkowski, PhD

Categories: Populations to Variants, Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Associate Professor of Neurology

Massachusetts General Hospital: Associate Investigator

Associate Investigator, Massachusetts General Hospital

Associate Professor of Neurology, Harvard Medical School

The Talkowski lab integrates molecular and computational genomics methods to study the genetic etiology of disorders affecting prenatal, neonatal, and early childhood development, as well as neurodevelopmental and psychiatric disorders. Our lab is also interested in variant-to-function studies to understand genomic perturbations to regulatory pathways in rare diseases and the applications of emerging technologies to clinical diagnostic screening.

Rudolph Tanzi, PhD

Categories: Training Program Faculty

Massachusetts General Hospital: Vice-Chair, Neurology Department

Massachusetts General Hospital: Director, Genetics and Aging Research Unit

Harvard Medical School: Joseph P. and Rose F. Kennedy Professor of Neurology

Vice-Chair, Neurology Department, Massachusetts General Hospital

Director, Genetics and Aging Research Unit, Massachusetts General Hospital

Joseph P. and Rose F. Kennedy Professor of Neurology, Harvard Medical School

I have been investigating the molecular and genetic basis of neurological disease since 1980 when I participated in the study that led to location of the Huntington’s disease (HD) gene, the first disease gene to be found by genetic analysis. Since 1982, I have been investigating the genetic and molecular basis of Alzheimer’s disease (AD). Between 1987 and 1995, I played key roles in various collaborations that discovered all three genes that cause early-onset familial AD, including the amyloid β-protein (A4) precursor (APP), and the presenilin genes (PSEN1 and PSEN2). In 1993, I discovered the gene responsible for the neurological disorder known as Wilson’s disease. Over the past 25 years, I have collaborated on studies identifying several other disease genes including those causing amyotrophic lateral sclerosis and autism. I currently oversee the Cure Alzheimer’s Fund Alzheimer’s Genome Project. In this project, we first carried out the first family-based AD genome-wide association screens and identified a set of novel AD genes, including ADAM10, for which we validated the pathogenicity of two rare missense mutations in late-onset AD families, and CD33, for which we have documented the mechanism of action in mouse models and autopsied brain samples. Most recently, my laboratory has generated and currently analyzing over 1500 whole genome sequences from the NIMH AD Genetics Initiative Family Sample and other AD families, in which we are identifying rare functional variants for AD. Since 2000, I have also co-invented the field’s leading -secretase modulators that have been emulated by big pharma and are now in clinical trials, in addition to our own clinical candidate. More recently, we characterized these compounds in an AD model that recapitulates both plaque and tangle pathology using human stem cell-derived neurons grown in a 3-dimensional cell culture system. We used this system to validate the amyloid hypothesis of AD by showing that amyloid plaques lead directly to tangle formation from endogenous tau protein. Most recently, my MGH colleagues and I have discovered a normal role for the amyloid beta protein, as an antimicrobial peptide that protects the brain against infection. In this hypothesis, plaques are seeded by microbes and serve to trap pathogenic microbes as part of the brain’s innate immune system. We are now searching for the exact microbes (bacterial, viral, fungal) that populate the AD brain and trigger amyloidosis as part of the antimicrobial hypothesis of AD. I also serve as Director of the Genetics and Aging Research Unit at MGH, which consists of 11 laboratories focusing on identifying risk factors for Alzheimer’s disease, and the mechanisms underlying the etiology and pathogenicity of the genes responsible for Alzheimer’s disease through the application of molecular, cell biological, and biochemical strategies. Our ongoing research in AD follows a basic roadmap, which includes disease gene discovery, translational and functional studies to identify pathogenic gene variants and mutations, molecular biological and biochemical studies to elucidate pathways that have been impacted by disease-associated gene changes, and novel drug screening assays to identify small molecules or supplements that can halt or reverse pathogenic molecular and biochemical phenotypes at the cellular level. I also serve as Vice-Chair of Neurology and Co-Director of the Mass General Institute for Brain Health at MGH.

Rudolph Tanzi, PhD

Joseph P. and Rose F. Kennedy Professor of Neurology, Harvard...

Jason Vassy, MD, MPH, MS

Categories: Training Program Faculty

Harvard Medical School: Associate Professor of Medicine

Associate Professor of Medicine, Harvard Medical School

Dr. Jason Vassy is an Associate Professor of Medicine at Harvard Medical School, a clinician-investigator at the Veterans Affairs (VA) Boston Healthcare System and Brigham and Women’s Hospital, and a founding member of Precision Population Health at Ariadne Labs. He is a practicing primary care internist and researcher in the implementation and evaluation of genomic medicine interventions. For the last decade, he has directed the Genomes2Veterans Research Program (https://www.genomes2people.org/research/genomes2veterans/), where his research examines the clinical utility of genetic and genomic testing in various primary care clinical contexts. Current projects include clinical trials of polygenic risk score (PRS) reporting, pharmacogenetic testing, and return of unanticipated genetic results associated with monogenic disease. He is also principal investigator for the VA All of Us Research Program. He has mentored clinical and research trainees at all levels and collaborates widely across Mass General Brigham, Harvard Medical School, and the VA nationally, including the Million Veteran Program.

Vanessa C. Wheeler, PhD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism

Harvard Medical School: Associate Professor of Neurology

Massachusetts General Hospital: Research Geneticist

Research Geneticist, Massachusetts General Hospital

Associate Professor of Neurology, Harvard Medical School

Repeat expansion diseases such as Huntington’s disease (HD) are characterized by the instability of their causative repeat mutations. The inherited repeat undergoes further somatic expansion that drives disease pathogenesis. Our lab uses patients and model systems to characterize and uncover the underlying modifiers and mechanisms of repeat instability in order to identify targets for disease-modifying therapies.