Meet Our Team

dgmacarthur_bw2Daniel MacArthur, PhD 
is the co-director for the Center for Mendelian Genomics at the Broad Institute. He is also a group leader within the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital, Assistant Professor at Harvard Medical School and the Associate Director of Medical and Population Genetics at the Broad Institute of Harvard and MIT.
heidi-web-2007.jpgHeidi Rehm, PhD, FACMG 
is the co-director for the Center for Mendelian Genomics at the Broad Institute.  She is also the Director of the Laboratory for Molecular Medicine at Partners Healthcare Personalized Medicine, Medical Director of the Broad's Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women's Hospital and Harvard Medical School.
Samantha Baxter - Genetic Counselor/Clinical Project Manager
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.

profilepic.png.jpgHarindra Arachchi - Senior Software Engineer
Harindra works on building tools to help study rare genetic diseases. Prior to that, he has been with the Center of Bioinformatics, Biostatistics and Integrative Biology at the Pasteur Institute in Paris France, and the Broad Institute of MIT. He works on developing infrastructure, software tools, and methods that help study rare genetic diseases. He has a Bachelors degree in Computer science with minors in Biology and Mathematics along with a MBA with a concentration in Strategy and Business analysis.

Laura GauthierLaura Gauthier - Computational Biologist
Laura is a computational biologist jointly based in the MacArthur lab and the Broad Institute Data Sciences and Data Engineering (DSDE) platform. She works on the development of variant-calling pipelines for rare disease samples.
monkollek_bwMonkol Lek - Computational biologist
Monkol is a computational biologist focusing on the large-scale analysis of exome sequencing data, and its application to improving understanding of human biology and disease risk. He leads the analysis team in the Exome Aggregation Consortium as well as many of our rare disease projects.
Anne O'DonnellAnne O'Donnell Luria - Clinical and Biochemical Geneticist / Senior Clinical Analyst
Anne is the Associate Director for the Broad Center for Mendelian Genomics, clinical genetics and metabolic specialist and a board-certified pediatrician. 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. Her prior research in the MD/PhD training program at Columbia University focused on the role of epigenetic variation in complex disease.
Beryl Cummings - Graduate Student and RNA-seq Analyst
Beryl is a graduate student from the Biomedical and Biological Sciences Program at Harvard who works on using RNA sequencing data to interpret the functional impact of human genetic variation.
Jamie MarshallJamie Marshall - Research Scientist
Jamie is a research scientist leading the group's efforts to create in vivoand in vitro models of muscle disease. She studied mechanisms of and therapeutic approaches for the treatment of muscular dystrophy during her PhD at UCLA and her postdoctoral research at Boston Children's Hospital.
benweisburdBen Weisburd - Software Engineer
Ben is a software engineer working on developing methods for interpreting DNA sequencing data in the context of severe Mendelian diseases. He is the lead developer for our xBrowse rare disease analysis platform.
Monica WojcikMonica Wojcik - Senior Clinical Analyst
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.
Miriam UdlerMiriam Udler - Clinical Analyst
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.
Jaime ChangJaime Chang - Project Coordinator
Jaime is a Project Coordinator for the Rare Genomes Project and Broad Institute's Center for Mendelian Genomics. She was previously a research associate in the Broad Institute’s Genetic Perturbation Platform and also has prior marketing experience in healthcare and biotech.
Kristen LaricchiaKristen Laricchia - Associate Computational Biologist
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.
Mike WilsonMike Wilson - Associate Computational Biologist
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.

 

Steering Committee

Joe Gleeson.jpgJoseph G. Gleeson, M.D. 
is the head of the Laboratory for Pediatric Brain Diseases and Professor at Rockefeller University and Director of Mendelian Genetics at the New York Genome Center.  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 50 novel causes of disease.
Eric Pierce.jpgEric A. Pierce, M.D., Ph.D. 
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.
Alan Biggs.jpgAlan H. Beggs, Ph.D. 
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.
Mark Daly.jpgMark J. 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.
Christine Seidman.jpgChristine E. Seidman, M.D. 
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.
sweetser.jpgDavid Sweetser, M.D. 
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
Vamsi Mootha.jpgVamsi K. Mootha, M.D. 
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.