People

dgmacarthur_bw2 Daniel MacArthur
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.
twitter@dgmacarthur
macarthurlab.org

Senior staff

jessicaalfoldi_bw Jessica Alföldi
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.
twitter@jalfoldi
Hayley Brooks Hayley Brooks
Hayley oversees and coordinates rare disease activities within the lab, as well as the Broad Center for Mendelian Genomics. She has a background in ethics and regulatory affairs.
monkollek_bw Monkol Lek
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 analysis and methods development for our Center for Mendelian Genomics.
twitter@theFourier2k
biolektures.wordpress.com
Jamie Marshall Jamie Marshall
Jamie is a research scientist leading the group’s wetlab efforts. She is particularly interested in the characterization of genes and variants implicated in muscle disease.
twitter@JamieLMars
Anne O'Donnell Anne O’Donnell-Luria
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.
twitter@AnneOtation
benweisburd Ben Weisburd
Ben is a principal 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 seqr rare disease analysis platform.
twitter@benweisburd

Trainees

irinaarmean_bw Irina Armean
Irina is 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.
Alicia Byrne
Alicia is a graduate student from the University of South Australia. She is working on the molecular diagnosis of rare genetic disease, with particular focus on disorders contributing to perinatal mortality.
Marco Chiumiento Marco Chiumiento
Marco is a graduate student at Northeastern University studying towards his MS in Bioengineering with a concentration in cell and tissue engineering. He is developing cell lines to study human genetic variation as a co-op intern in the wet lab.
Beryl Cummings Beryl Cummings
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.
twitter@beryl_bbc
laurentfrancioli_bw Laurent Francioli
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).
konradkarczewski_bw Konrad Karczewski
Konrad is 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.
twitter@konradjk
konradjkarczewski.com
Qingbo Wang Qingbo Wang
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.
Clara Williamson Clara Williamson
Clara is an undergraduate at Tufts earning a double major in Biology and Spanish. She has a history in genetic disease research and is working on the Rare Genomes Project during her senior year of college.
Zach Zappala Zach Zappala
Zach is a postdoctoral fellow interested in developing novel methods to measure variant penetrance and understanding the underlying factors that affect variant pathogenicity.
twitter@zaczap

Software engineers

Harindra Arachchi Harindra Arachchi
Harindra is 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 works 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.
Matthew Solomonson Matthew Solomonson
Matt is a 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.

Computational biologists

Katherine Chao Katherine Chao
Katherine is a computational biologist conducting exome analyses for families with rare disease. Before joining the Broad, she worked in the NIH’s Undiagnosed Diseases Program.
Laura Gauthier Laura Gauthier
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.
kristenlaricchia_bw Kristen Laricchia
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.
Grace Tiao Grace 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.
Michael Wilson Michael 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. He was previously a Senior Research Associate in the Broad Institute’s Clinical Research Sequencing Platform.

Rare Disease Staff

Samantha Baxter Samantha Baxter
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.
twitter@sambaxtercgc
Katherine Blakeslee Katherine Blakeslee
Katherine works closely with rare disease activities within in the lab, as well as coordinating the start the kidney genomes project. She has a background in genetic research and evaluation as well as day-to-day program operations.
twitter@kbswoon
Jaime Chang Jaime Chang
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.
Duni Getaneh Duni Getaneh
Duni is a Senior Clinical Research Coordinator for the Rare Genomes Project, and acts as the primary point of contact for participants. She is responsible for consenting families, working with our advocacy partners, and incorporating family feedback throughout the lifecycle of the project. Duni also serves 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.
Idara Ndon Idara Ndon
Idara is 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 includes regulatory coordination in an industry setting, as well as research assistantships within the US and internationally.
Miriam Udler Miriam Udler
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.
Monica Wojcik Monica Wojcik
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.

Wet Lab Staff

David O'Connell David O’Connell
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.

Affiliate members

Eric Minikel 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.
twitter@cureffi
cureffi.org

Former members

liwenxu_bw Liwen Xu
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.
andrewhill_bw 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.
twitter@_AndrewJohnHill
andrewjohnhill.com
karolestrada_bw2 Karol Estrada
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.
twitter@karls_es
broadinstitute.org/~karol
bretthomas_bw Brett Thomas
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.
twitter@BrettThomas
github.com/brettpthomas
James Ware James Ware
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.
twitter@drjamesware
imperial.ac.uk/people/j.ware
tarutukiainen_bw Taru Tukiainen
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.
twitter@ttukiainen
Daniel Birnbaum Daniel Birnbaum
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.
twitter@dapbirn
daniellesookiasian Danielle Sookiasian
Danielle was a research associate working in the wet lab, working on engineering human embryonic stem cells with patient specific mutations.
fengmeizhao_bw2 Fengmei Zhao
Fengmei was a bioinformatics specialist who coordinated the collection of exome sequencing and other data from Mendelian disease collaborators.
twitter@FengmeiZhao
Preeti Singh Preeti Singh
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.
peterfan_bw Peter Fan
Peter was an associate computational biologist jointly based in the MacArthur Lab and the Broad Institute’s Data Sciences and Data Engineering Team.
Matthew Aguirre Matthew Aguirre
Matt is an undergraduate student at Harvard who worked on developing machine learning methods for variant filtration.
Sahar Ashrafzadeh Sahar Ashrafzadeh
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 Valkanas Elise Valkanas
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.
twitter@valkanase
Emma Pierce-Hoffman Emma Pierce-Hoffman
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 Prasad Arnav Prasad
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.
leonyang Leon Yang
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 Mullen Tom Mullen
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.