Daniel is a group leader within the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital. He is also Assistant Professor at Harvard Medical School, and the Co-Director of Medical and Population Genetics at the Broad Institute of Harvard and MIT.
Jessica is the associate director of genomic data; she coordinates our work on gnomAD and other related projects, as well as our interactions with industry.
Samantha is the clinical project manager at the Broad Institute’s Center for Mendelian Genomics. She is a genetic counselor who has worked in the area of cardiovascular genetics and now focuses on the management and sharing of both clinical and genetic data.
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.
Anne is the associate director of the Center for Mendelian Genomics. Her research focuses on improving rare disease diagnosis, discovery of novel disease genes, and understanding the mechanisms of incomplete penetrance. In her second life as a practicing clinician she also runs a clinic at Boston Children’s Hospital focused on epigenomic disorders.
Melanie is a genetic counselor who has worked in a variety of clinical, research, and clinical laboratory settings. As the Senior Clinical Manager for the Rare Genomes Project, she is involved in multiple aspects of the project and will lead the return of results to families enrolled in the study.
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.
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.
Laurent is a postdoctoral fellow interested in developing novel computational approaches for large-scale genomics. He is working on statistical methods for novel gene discovery in Mendelian diseases, and leading the Genome Aggregation Database (gnomAD).
Vijay is a postdoctoral fellow interested in understanding the genetic architecture of of adult-onset Mendelian muscle diseases, and developing computational tools such as RNAseq to improve the diagnostic yield in these disorders . He is also a neurologist at Brigham and Women’s Hospital who sees patients with neuromuscular disorders.
Sanna is a postdoctoral research fellow who is interested in improving care and understanding of rare diseases. She investigates mechanisms underlying incomplete penetrance in Mendelian disorders and works with large population data to estimate the penetrance of putative pathogenic variants.
Rachel is a genomic variant curator co-op attending Northeastern University as a Cell & Molecular Biology major with a strong interest in human genetics. She is currently applying to medical schools.
Qingbo is a graduate student from the Bioinformatics and Integrative Genomics PhD program at Harvard. He works on computational analysis of RNA expression in muscle tissues at single nucleus resolution, interested in the intersection of large population data and single cell genomics.
Lauren is an operations specialist who oversees the management of grants and finance for the MacArthur lab. She studied Health Management and Policy at the University of New Hampshire.
Huy is a software engineer with a passion for making beautiful, engaging and high-performance web applications using the latest web technologies. He is currently working on developing tools for exploring complex genetic data sets. Huy previously worked as a Front-End Developer at the Center for International Development, an economics think-tank at Harvard University, and Periscopic, a data visualization firm. He studied physics at Reed College and did significant research on computational solutions to problems in many-body quantum physics.
Kevin is a software engineer currently working on genetics pipelines and tooling infrastructure and is interested in exploring biotechnology and medicine. He studied computer science and has has worked as a software engineer at big tech companies as well as small startups.
Hana is a software engineer working on building tools to facilitate rare disease research. She studied computer science with a minor in engineering biology.
Nick is a software developer working on tools for exploring genomic datasets. He studied computer engineering at Clemson University.
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.
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.
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 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.
|Jorge Perez de Acha Chavez
Jorge is an associate computational biologist working on developing computational methods to diagnose rare diseases using RNA-seq.
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.
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. He was previously a Senior Research Associate in the Broad Institute’s Clinical Research Sequencing Platform.
Rare Disease Staff
Jaime Chang 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.
|Stephanie Parker DiTroia
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.
Eleina is a genomic variant analyst working to identify causal candidate genes/variants in rare disease exomes and genomes. Before coming to the MacArthur group, 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.
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.
Brian is a project coordinator for the Rare Genomes Project. He studied neurobiology as an undergraduate and has experience in patient advocacy and community outreach.
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.
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.
Ellie is a genomic clinician utilising 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.
Moriel is a variant curator who uses the ACMG guidelines to curate variants for the MacArthur Lab and outside collaborators. She has genetic experience from her graduate and undergraduate degrees in animal biology.
Grace is a clinical project manager for the Rare Genomes Project. She is a genetic counselor with a background in pediatric rare disease, gene discovery, and genomic sequencing.
Monica is a pediatrician and clinical genetics and neonatal-perinatal medicine fellow who is a senior analyst for the Broad’s Center for Mendelian Genomics. She is interested in the diagnosis of rare genetic disease in the neonatal period and genetic contributions to neonatal-perinatal mortality.
Ryan is a Ph.D. candidate in Mike Talkowski’s lab from the Bioinformatics and Integrative Genomics PhD program at Harvard. In close collaboration with the MacArthur lab, Ryan’s research focuses on detecting genomic structural variants across human populations, and characterizing their functional consequences. Prior to graduate school, Ryan studied computational genetics at Dartmouth College.
|Eric Vallabh Minikel
Eric is a computational scientist interested in using large-scale exome sequencing data to inform diagnosis and therapeutic development strategy in Mendelian disease, particularly neurodegenerative disorders. He now works part-time while completing his graduate degree in the Biomedical and Biological Sciences Program at Harvard.
Miriam is a post-doctoral fellow, focusing on the spectrum of rare and common genetic variation contributing to type 2 diabetes and related traits. Trained as a genetic epidemiologist during her MD-PhD, she is now a fellow in adult endocrinology at MGH, specializing in endocrine clinical genetics.
Nicky is a Research Fellow at Imperial College London interested in using bioinformatics and large genomic datasets to study the contribution of rare coding and non-coding variants to human disease.
Liwen worked in the lab from 2015-2016, using exome sequencing to identify a genetic diagnosis for over 180 families with late-onset limb-girdle muscle weakness. She has now returned to full-time clinical responsibilities as a medical student at Harvard Medical School.
|Andrew J. Hill
Andrew is a software engineer and genomics researcher who worked in the lab on developing improved methods for variant annotation and the application of sequencing to Mendelian genetics. He is now a PhD student at the University of Washington.
Karol Estrada worked as a postdoctoral research fellow using exome sequencing to investigate the genetic basis of type 2 diabetes, and whole-genome sequencing of patients with neuromyelitis optica. He now works as a research scientist at Biogen Idec.
Brett worked as a software engineer leading the development of xBrowse, an online platform for the analysis of exome data from rare Mendelian disease families built in collaboration between the MacArthur and Daly labs. He is now a consultant software developer.
James Ware is a clinical cardiologist working on clinical variant interpretation and mendelian disease gene discovery, with a focus on inherited heart disease. He was a postdoctoral research fellow based jointly in the MacArthur lab and the Seidman lab at Harvard Medical School. He has now started his own lab at Imperial College London.
Taru was a postdoctoral research fellow in the lab focused on using transcriptome sequencing (RNA-seq) data from populations as well as single cells to investigate the molecular basis of gene inactivation on the female X chromosome. She is now a research fellow at the Finnish Institute of Molecular Medicine.
Daniel worked as a computational analyst focused on investigating the impact of loss-of-function (LoF) variation in healthy humans and developing quantitative methods for assessing the veracity of splice site annotations. He is now a graduate student at Harvard.
Danielle was a research associate working in the wet lab, working on engineering human embryonic stem cells with patient specific mutations.
Fengmei was a bioinformatics specialist who coordinated the collection of exome sequencing and other data from Mendelian disease collaborators.
Preeti was a software engineer developing software tools and portals for understanding loss-of-function variants. She is now working as a software engineer on the Broad’s diabetes portal.
Peter was an associate computational biologist jointly based in the MacArthur Lab and the Broad Institute’s Data Sciences and Data Engineering Team.
Matt is an undergraduate student at Harvard who worked on developing machine learning methods for variant filtration.
Sahar is an undergraduate student at Harvard studying Molecular and Cellular Biology. She was investigating the phenotypic effects of loss-of-function mutations in targeted genes in order to explore therapeutic strategies for neurodegenerative disorders.
Elise was a computational biologist who worked in the lab on the genomic diagnosis of rare disease families. Prior to joining the lab she worked at the NIH’s Undiagnosed Diseases Program. She is now a graduate student at Harvard.
Emma is an undergraduate at Yale who worked on discovery and analysis of multi-nucleotide variants (MNVs) as well as analysis of rare disease cohorts for the CMG over the summer of 2017.
Arnav is a high school student at the Belmont Hill School. He worked in the wetlab from January to August in 2017 on improving methods for imaging muscle cells and cell-line engineering.
Leon is an undergraduate at Harvard who worked in the wetlab over the summers of 2016 and 2017. He worked on screening engineered cell lines with loss-of-function variants, optimizing muscle differentiation protocols, and imaging in vitro models of muscle cells.
Tom was a senior analyst for the Broad’s Center for Mendelian Genomics, where he had a special focus on the role of regulatory genetic variation in inherited disease. He was also the clinical laboratory director for the Broad Institute’s Clinical Research Sequencing Platform.
David recently completed his undergraduate degree in Immunobiology at Brown University. He is developing cell lines to study human genetic variation as a research associate in the wet lab.
Hayley oversaw and coordinated rare disease activities within the lab, as well as the Broad Center for Mendelian Genomics. She has a background in ethics and regulatory affairs.
Alicia was a visiting graduate student from the University of South Australia in 2017. She was working on the molecular diagnosis of rare genetic disease, with particular focus on disorders contributing to perinatal mortality.
Irina was a postdoctoral scientist interested in the functional annotation of protein-truncating variants and their impact on human biology. She studied protein function annotation via protein complexes during her PhD at the University of Cambridge, and worked on de novo genome assembly and gene annotation at European Bioinformatics Institute before joining the lab.
Monkol was a computational biologist in the lab from 2012-2017 focused on the large-scale analysis of exome sequencing data, and its application to improving understanding of human biology and disease risk. He led analysis and methods development for our Center for Mendelian Genomics. He is now an Assistant Professor of Genetics at Yale University School of Medicine.
Zach was a postdoctoral fellow interested in developing novel methods to measure variant penetrance and understanding the underlying factors that affect variant pathogenicity. He is now a Research Scientist at Vertex Pharmaceuticals.
Katherine worked with rare disease activities within in the lab, as well as coordinated the start the kidney genomes project. She has a background in genetic research and evaluation as well as day-to-day program operations.
Jamie was a research scientist leading the group’s wetlab efforts. She is particularly interested in the characterization of genes and variants implicated in muscle disease.
Idara was a Regulatory Coordinator for the Rare Genomes Project and Broad Institute’s Center for Mendelian Genomics, focused on compliance and optimizing the family experience. Her past work included regulatory coordination in an industry setting, as well as research assistantships within the US and internationally.
Duni was a Senior Clinical Research Coordinator for the Rare Genomes Project, and acted as the primary point of contact for participants. She was responsible for consenting families, working with our advocacy partners, and incorporating family feedback throughout the lifecycle of the project. Duni also served as an Executive Board Member of the National Alzheimer’s Buddies (NAB) and in 2014 founded a local branch of the Alzheimer’s Buddies Program at Gordon College.
Marco is graduate student at Northeastern University studying towards his MS in Bioengineering with a concentration in cell and tissue engineering. He was developing cell lines to study human genetic variation as a co-op intern in the wet lab.
Harindra was part of the Engineering team at the Broad Center for Mendelian Genomics at ATGU. Prior to that, he worked at the Pasteur Institute in Paris and was with the Cancer group at the Broad Institute of MIT. He worked on developing 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.
Konrad was a postdoctoral scientist researching the prevalence and impact of loss-of-function variation in healthy human genomes and developing software pipelines for the improved annotation thereof. He is now a Staff Scientist in the Neale lab.
Lauren was a Senior Project Manager at the Broad Institute responsible for leading the project management team for the MacArthur Rare Disease Group. She has a background in genetic research, molecular biology and public health.
Zaheer was a variant analyst for families with rare diseases in the Broad Center for Mendelian Genomics. Before joining the Broad, he worked in the NIH Undiagnosed Diseases Program.
Garrett was a wet lab Research Associate who validated computational findings in the lab, and also worked with the Claussnitzer Lab in the Metabolism Program. He was previously a research technician at MGH and DFCI, and studied Chemistry and Classical Studies in his undergraduate.
Beryl was a graduate student from the Biomedical and Biological Sciences Program at Harvard who worked on using RNA sequencing data to interpret the functional impact of human genetic variation.
Abigail was an genomic variant curator co-op for the Rare Disease Group and Center for Mendelian Genomics. She is an undergraduate student at Northeastern University studying Behavioral Neuroscience and is pursuing a career as a Genetic Counselor.
Clara was project coordinator for the Rare Genomes Project. She has a history in genetic disease research and was working on building out tools for patient outreach and communication. She is now attending Tufts Medical School.