Priscilla Brastianos, MD

Categories: Training Program Faculty
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

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

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

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.

Keith Flaherty, MD

Professor of Medicine, Harvard Medical School

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.

Robert Green, MD, MPH

Professor of Medicine, Harvard Medical School

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.

Anna Greka, MD, PhD

Associate Professor of Medicine, Harvard Medical School

Maria Gutierrez-Arcelus, PhD

Categories: Training Program Faculty
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/

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.

John Iafrate, MD

Professor of Pathology, Harvard Medical School

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.

Elizabeth Karlson, MD

Professor of Medicine, Harvard Medical School

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

Manolis Kellis, PhD

Categories: Training Program Faculty
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

Categories: Training Program Faculty
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

Categories: Training Program Faculty, Variants to Disease & Traits, Variants to Function & Mechanism
Harvard Medical School: Assistant Professor of Pathology
Massachusetts General Hospital: Investigator; Kayden-Lambert MGH Research Scholar 2023-2028
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

Phil H. Lee, PhD

Categories: Training Program Faculty, Variants to Diagnosis, Variants to Disease & Traits, Variants to Function & Mechanism
Harvard Medical School: Associate Professor of Psychiatry
Massachusetts General Hospital: Associate Professor
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

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.

Katherine Liao, MD, MPH

Associate Professor of Medicine, Harvard Medical School

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.

Richard Maas, MD, PhD

Professor of Medicine, Harvard Medical School

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.

Alicia Martin, PhD

Assistant Professor, Harvard Medical School

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.

Shawn Murphy, MD, PhD

Professor of Neurology and Biomedical Informatics, Harvard Medical School

Anne O’Donnell-Luria, MD, PhD

Categories: Training Program Faculty
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,...

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.

Heidi L. Rehm, PhD

Professor of Pathology, Harvard Medical School

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.

Elise B. Robinson, ScD

Assistant Professor of Psychiatry, Harvard Medical School

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.

Jonathan Rosand, MD, MSc

Professor of Neurology, Harvard Medical School

Pardis Sabeti, MD, DPhil

Categories: Training Program Faculty
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...

Richa Saxena, PhD

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

Professor of Anesthesia, Harvard Medical School

Richa Saxena, PhD

Professor of Anesthesia, Harvard Medical School

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.

Jeremiah M. Scharf, MD, PhD

Assistant Professor of Neurology, Harvard Medical School

Ayellet Segrè, PhD

Categories: Training Program Faculty
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...