Meet our team
Lab Staff
Principal Investigators
Heidi Rehm, PhDHeidi 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 MacArthur, PhDDaniel 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’Donnell-Luria, MD PhDAnne 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
Monica Wojcik, MD
Monica is an attending neonatologist and geneticist at Boston Children's Hospital and an associated scientist at the TGG. Her research focuses on applying genomic medicine to neonatology, particularly outcomes associated with neonatal genetic diagnosis and understanding genetic contributions to infant mortality.
Stephanie Parker DiTroia, PhDStephanie 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 Pais, MS
Lynn is a clinical genomic analyst who uses large-scale population databases and genomic tools to discover new genes underlying Mendelian diseases. She works closely with clinical collaborators from around the world to interpret rare genomes and identify causal variants in undiagnosed patients.
Emily O'Heir
Emily is a genomic variant analyst working to identify causal candidate genes/variants in rare disease exomes and genomes. Prior to joining the Broad, she worked in clinical cytogenetics and genomics laboratories as part of her undergraduate training in diagnostic genetic sciences.
Ellie Seaby, MDEllie 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 Udler, MD PhDMiriam 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 Baxter, MS, LGCSam is a licensed, board-certified genetic counselor and associate director of data sharing in the TGG. This role includes managing the operations for gnomAD, overseeing all of the data sharing activities for the Broad’s Center for Mendelian Genomics, and leading her team of variant curators. As part of her ongoing research, she uses various curation processes to estimate the prevalence of rare disease in the global population.
Moriel Singer-Berk, MSMoriel 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 is the Associate Director for Computational Genomics and leads a team of computational biologists developing efficient methods and pipelines to produce and analyze large-scale sequencing callsets, including the Genome Aggregation Database (gnomAD), the UK BioBank, and rare disease cohorts generated by the Broad’s Center for Mendelian Genomics. She is the product owner for gnomAD and directs the production of gnomAD releases. Grace studied statistics and mathematics at the University of Oxford and worked for several years in the Cancer Genome Analysis group at the Broad.
Julia Goodrich, PhDJulia is a computational biologist developing methods for quality control and analysis of large-scale genomic datasets including the Genome Aggregation Database (gnomAD) and UK Biobank. She was previously a postdoctoral fellow in the MacArthur lab researching incomplete penetrance in monogenic metabolic conditions.
Kristen Laricchia, MSKristen 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 is an associate computational scientist developing quality control pipelines to prepare large exome datasets for downstream analyses. She also performs variant analyses for families with rare muscle disease. Before joining the Broad, she worked in the National Institutes of Health Undiagnosed Diseases Program.
Ben WeisburdBen 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 WilsonMike 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 Gauthier, PhDLaura 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 is a principal software engineer working on developing data standards to scale knowledge curation and dissemination. He has spent 30 years designing and developing data models, software and tooling, with the past 15 years particularly focused on managing and sharing genetic data to improve clinical care.
Shifa ZhangShifa 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 Solomonson, PhDMatt 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 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 is a software developer working on tools for exploring genomic datasets. He studied computer engineering at Clemson University.
Project Management
Stacy ManoStacy 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 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 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 and as a nursing assistant.
Steering Committee
Joseph G. Gleeson, MDDr. 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, PhDDr. 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 E. Seidman, MDDr. 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 K. Mootha, MDDr. 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 PhDDr. 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, PhDDr. 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 Sweetser, MD, PhDDr. 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.
Alumni
Alysia Lovgren, PhDAlysia 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.
Eleina England, MSEleina 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.