Meet our team

Lab Staff                                                                                            

Principal Investigators

Heidi RehmHeidi Rehm, PhD
Heidi is the co-director for the Center for Mendelian Genomics at the Broad Institute. She is also the chief genomics officer of the Department of Medicine at Massachusetts General Hospital and a professor at Harvard Medical School. She built the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine and directed it until 2018. She is a strong advocate and pioneer of open science and data sharing through leadership roles in the Clinical Genome (ClinGen) Resource and the Global Alliance for Genomics and Health. 
Daniel MacArthurDaniel MacArthur, PhD
Daniel served as the co-director for the Broad Institute Center for Mendelian Genomics from 2016-2019. In 2020, he relocated to Sydney, Australia, where he now serves as the Director of the Centre for Population Genomics, jointly based at the Garvan Institute of Medical Research and the Murdoch Children's Research Institute.
Anne O'DonnellAnne O’Donnell-Luria, MD PhD
Anne is co-director for the Broad Center for Mendelian Genomics. She obtained her MD/PhD from Columbia University and is a board-certified clinical genetics and metabolism physician and pediatrician who sees patients at Boston Children's Hospital. Her current research focuses on the use of exome and genome sequence data to identify genetic variation in health and disease to improve rare disease diagnosis and better understand incomplete penetrance.

Analysis

Alysia LovgrenAlysia Lovgren, PhD
Alysia is a clinical genomics scientist who is leading the analysis team for the Rare Genomes Project and Broad Institute’s Center for Mendelian Genomics. Prior to joining the Broad, Alysia performed variant interpretation in the whole exome sequencing group at GeneDx.
Monica WojcikMonica Wojcik, MD
Monica is Senior Clinical Analyst and a board-certified pediatrician who is now completing her combined fellowship training through the Harvard Medical School Genetics Training Program and the Harvard Program in Neonatal- Perinatal Medicine. Her research focuses on gene discovery and the diagnosis of rare disease in the neonatal population.
Stephanie Parker DiTroiaStephanie Parker DiTroia, PhD
Stephanie is a genomic variant analyst working to identify causal candidate genes/variants in rare disease exomes and genomes. Prior to joining the Broad, she studied epigenetics in fetal development at UCSF and worked in genomic research at the HudsonAlpha Institute for Biotechnology.
Lynn PaisLynn Pais, MS
Lynn is a genomic variant analyst who helps interpret rare disease exomes and genomes to identify causal candidate genes and variants. She also manages and coordinates activities for certain rare disease cohorts, working closely with a set of clinical collaborators from around the world.
Eleina EnglandEleina England, MS
Eleina is a genomic variant analyst working to identify causal candidate genes/variants in rare disease exomes and genomes. Before coming to the Broad, Eleina worked as a variant scientist at Claritas Genomics and SolveBio, Inc. Prior to variant science work, she worked in a wide variety of wet labs as part of her undergraduate and graduate training in biological sciences.
Emily O'HeirEmily O'Heir
Emily is a genomic variant analyst conducting exome and genome analyses for families with rare diseases. She has a degree in diagnostic genetic sciences and previously worked in clinical cytogenetics and genomics laboratories.
Ellie SeabyEllie Seaby, MD
Ellie is a genomic clinician utilizing genome and exome data for rare disease diagnostics and new gene discovery. Prior to joining the Broad, she worked as full-time clinician in London and conducted research through her position as a visiting research fellow in genomic informatics at the University of Southampton.
Miriam UdlerMiriam Udler, MD PhD
Miriam is Clinical Analyst in the Rare Genomes Project. Board Certified in Internal Medicine and Endocrinology, Diabetes, and Metabolism, she sees patients at Massachusetts General Hospital (MGH) with a special focus on Endocrine Clinical Genetics. She holds a PhD in Genetic Epidemiology and is a research analyst at the Broad Institute and MGH.

Clinical

Samantha BaxterSamantha Baxter, MS, LGC
Samantha is the clinical project manager at the Broad's Center for Mendelian Genomics. She is a genetic counselor who has worked in the area of cardiovascular and laboratory genetics throughout her career. Her work now focuses on the management and sharing of both clinical and genetic data.
Moriel Singer-BerkMoriel Singer-Berk, MS
Moriel is a clinical genomic variant curator who uses the ACMG guidelines to curate variants for the CMG, gnomAD, and outside collaborators. Prior to joining the Broad she studied animal biology with a focus on equine genetics at University of California, Davis.

Computational Biology

Grace TiaoGrace Tiao
Grace is a computational biologist working on computational methods development and analysis of the Genome Aggregation Database (gnomAD). She studied statistics and mathematics at the University of Oxford and worked for several years in the Cancer Genome Analysis group at the Broad.
Julia GoodrichJulia Goodrich, PhD
Julia is a computational biologist interested in developing methods to improve the diagnosis of rare genetic diseases. She is currently focused on detecting structural variants in rare disease cohorts.
Kristen LaricchiaKristen Laricchia, MS
Kristen is an Associate Computational Biologist who works on the preliminary analyses and management of datasets for the Exome Aggregation Consortium and novel gene discovery for Mendelian diseases.
Katherine ChaoKatherine Chao
Katherine is an associate computational biologist conducting exome analyses for families with rare disease. Before joining the Broad, she worked in the NIH’s Undiagnosed Diseases Program.
Ben WeisburdBen Weisburd
Ben is a computational biologist working on developing methods for interpreting DNA sequencing data in the context of severe Mendelian diseases. He is the lead developer for our seqr rare disease analysis platform.
Michael WilsonMichael Wilson
Mike is an associate computational biologist working on the preliminary analyses of exomes and genomes to identify causal candidate genes and variants. He also manages datasets from Mendelian disease collaborators.
Laura GauthierLaura Gauthier, PhD
Laura is a computational biologist jointly based in the Translational Genomics Group (TGG) and the Broad Institute Data Sciences Platform (DSP). She works on the development of variant-calling pipelines for rare disease samples.

Software Engineering

Larry BabbLarry Babb
Larry is a software engineer interested in advancing the use of genetics in both research and clinical care by developing infrastructure for capturing and sharing genetic knowledge using FAIR principles. He manages two software development teams at the Broad Institute, ClinGen and seqr, and participates in the data sharing standards organizations of GA4GH and HL7. He has worked on both academic and commercial systems for delivering clinical genetics results and knowledge for over 16 years.
Shifa ZhangShifa Zhang
Shifa is a computational scientist and software engineer working on tools for managing and interpreting DNA sequencing data. Prior to joining the Broad Institute, Shifa developed a secure biomedical data analytics and sharing platform at Secure AI Labs.
Matt SolomonsonMatt Solomonson, PhD
Matt is a senior software engineer interested in developing interactive visualization tools for exploring large biological datasets. He studied protein structural biology during his PhD at the University of British Columbia.
Hana SnowHana Snow
Hana is a software engineer working on building tools to facilitate rare disease research. She is the lead developer for our rare disease analysis platform, seqr. She studied computer science with a minor in engineering biology.
Nick WattsNick Watts
Nick is a software developer working on tools for exploring genomic datasets. He studied computer engineering at Clemson University.

Project Management

Stacy ManoStacy Mano
Stacy is a Senior Project Manager at the Broad Genomics Platform and manages various operational aspects for the Broad CMG and the Rare Genomes Project. Previously, Stacy worked in project management in industry and academia.
Kathryn LarkinKathryn Larkin
Kathryn is a project coordinator for the Center for Mendelian Genomics and the Rare Genomes Project. Before joining the Broad, she worked in various wet labs performing library construction and quality control for NGS and nanopore sequencing research.
stacey-hallStacey Hall
Stacey is a project coordinator for the Center for Mendelian Genomics and the Rare Genomes Project. She has a Masters in public health and prior to working at the Broad she worked in clinical trials research.

Steering Committee

Joseph GleesonJoseph G. Gleeson, MD
Dr. Gleeson is a Professor of Neuroscience and Pediatrics at UC San Diego School of Medicine.  He is also an investigator with the Howard Hughes Medical Institute. His research focuses on understanding the genetic basis of neurodevelopmental disorders and the discovery of new treatments. He has uncovered over 100 causes of pediatric brain disease.
Alan H. Beggs, PhDAlan H. Beggs, PhD
Dr. Beggs is a Professor of Pediatrics at Harvard Medical School and the Founding Director of The Manton Center for Orphan Disease Research. He is also Associate Chief for Research, Division of Genetics, at Boston Children's Hospital. He brings over 20 years of expertise in genetics of inherited pediatric developmental and neurological disorders.
Christine SeidmanChristine E. Seidman, MD
Dr. Seidman is a Professor of Medicine and Genetics at Harvard Medical School, an Investigator with the Howard Hughes Medical Institute, and the Director of the Cardiovascular Genetics Center at Brigham and Women's Hospital. She researches the molecular basis of hypertrophic and dilated cardiomyopathy, discovering genetic causes of congenital heart disease and elucidating the clinical impact of rate cardiovascular gene variants.
Vamsi MoothaVamsi K. Mootha, MD
Dr. Mootha is an Institute Member of the Broad Institute and Professor of Systems Biology and Medicine at Harvard Medical School. He is also an Investigator with the Howard Hughes Medical Institute. He has experimentally defined the mitochondrial proteome and discovered over a dozen genes underlying fatal pediatric disorders. He brings expertise in strategies to understand the genetic basis of mitochondrial disorders.
Eric A. Pierce, MD PhDEric A. Pierce, MD PhD
Dr. Pierce is the Director of the ocular Genomics Institute at Massachusetts Eye and Ear Infirmary and Associate Professor of Ophthalmology at Harvard Medical School. He has over 20 years of research and clinical experience with inherited retinal degenerations and has identified four new disease genes to date.
Mark J. Daly, PhDMark J. Daly, PhD
Dr. Daly is the chair of the Analytic and Translational Genetics Unit at Massachusetts General Hospital, a senior associate member of the Broad Institute, and co-director of the Broad's Program in Medical and Population Genetics. He has developed many genomic analysis tools and have extensive leadership in large-scale data science and exome sequencing consortia.
David SweetserDavid Sweetser, MD, PhD
Dr. Sweetser is Chief of Medical Genetics at Massachusetts General Hospital and is trained in pediatrics and medical and biochemical genetics. He studies patients with a broad spectrum of hereditary disorders with a focus on pediatric hematology.