BCL

Caitlyn (she/her) is a board-certified genetic counselor and clinical genomics specialist in the Broad Clinical Labs, where she serves on the clinical operations team. She combines expertise in variant interpretation with a commitment to patient-centered care, grounded in previous work across research, advocacy, and public health. Caitlyn earned her Master’s in Genetic Counseling from Boston University and holds a Bachelor’s degree in Biology from Northeastern University.

ClinGen

Danielle (she/her) is a genetic counselor and Principal Clinical Genomics Specialist within TGG. Her work focuses on two genomic data-sharing efforts: the Clinical Genome Resource (ClinGen) and Matchmaker Exchange, which aims to improve our knowledge of genomic variants and their impact on human health through data sharing and expert curation. Danielle is an Adjunct Associate Professor for the MGH Institute of Health Professions Master of Science in Genetic Counseling Program and a member of the program's Research Oversight Committee.

LinkedIn • Twitter (@AzzaritiD)

ClinGen • Rare Disease Group

Larry is a senior 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.

LinkedIn • GitHub (larrybabb)

gnomAD • Rare Disease Group • TGG Operations

Sam 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.

Rare Disease Group

Ben (he/him) is a senior software engineer working on Seqr, our rare disease analysis platform. He studied Computer Science and Biology, and has designed data-intensive applications at various startups and large tech companies.

Rare Disease Group • ClinGen

Alex Bloemendal (he/him) is a senior machine learning scientist and institute scientist at the Broad Institute of MIT and Harvard. Joining the Translational Genomics Group from the Data Sciences Platform, he leads and advises interdisciplinary and external collaborations that bring state-of-the-art computational tools to bear on the problems of translational genomics and genomic medicine, especially the diagnosis of rare disease. Previously, as a member of the Neale and Lander Labs, Bloemendal helped develop methods for analyzing human genetic and other large-scale biological data toward a better understanding of the mechanisms underlying common and complex disease, initially co-founding the Hail project for scalable genomic analysis. Bloemendal also co-founded and co-chaired the Broad’s Models, Inference & Algorithms initiative, a widely attended seminar series and community to foster learning and collaboration across the interface of biology and medicine with mathematics, statistics, machine learning, and computer science.

Bloemendal was previously a Simons Fellow in the Department of Mathematics and a research scientist in the Program for Evolutionary Dynamics at Harvard University. His research in probability and random matrix theory focused on questions around signal and noise in high-dimensional data; he proved a conjecture with wide-reaching applications in fields including population genetics. Bloemendal also earned a teaching award for an advanced course on probability.

Bloemendal received an Hon. B.Sc., M.Sc., and Ph.D. in mathematics from the University of Toronto.

ClinGen

Alicia is a research scientist and genomics specialist in the ClinGen team. Her work focuses on the ongoing and dynamic development of variant classification standards, and their implementation across a range of disease areas. Prior to joining the Broad Institute, Alicia received her doctoral degree from the University of South Australia, applying genomic approaches to understand the causes underlying perinatal mortality.

Twitter (@AliciaBByrne)

gnomAD • Rare Disease Group

Katherine (she/her) is a Software Product Manager at the Broad Institute, where she leads the production of the Genome Aggregation Database (gnomAD). She manages the roadmap for future development and also works on methods development using gnomAD.

GitHub (ch-kr)

O'Donnell-Luria Lab

Laura completed her PhD at the Karolinska Institute in Sweden, integrating omics data to improve diagnostics of primary immunodeficiencies. She is currently a postdoctoral fellow in the O'Donnell-Luria lab, with a particular interest in identifying functional regulatory variants in Mendelian disease.

gnomAD

Principal Software Engineer

ClinGen • BCL

Marina (she/her) is a board-certified clinical molecular geneticist and is an Associate Laboratory Director at Broad Clinical Labs. She also directs the Broad-based ClinGen biocuration team and sits as a framework expert on 15 ClinGen expert panels across a range of different disease areas. Her research interests involve testing and setting curation standards in gene curation, variant curation, and disease ontologies.

Rare Disease Group

Stephanie (she/her) is a clinical genomic variant analyst working to discover novel disease genes and identify causal variants in rare disease exomes and genomes. She works closely with research and clinical collaborators around the world to diagnose patients and curate the clinical validity of rare gene-disease associations. Prior to joining the Broad, Stephanie worked for the ENCODE consortium at HudsonAlpha and earned her doctorate studying epigenetics in fetal development at UCSF.

LinkedIn

ClinGen

Hannah (she/her) is a project coordinator for the Clinical Genome Resource (ClinGen). Her work focuses on providing core coordination support to various ClinGen Working Groups and Expert Panels, including the Data Platform, Kidney Disease Clinical Domain Working Group, and RASopathy Expert Panels.

GA4GH

Jaclyn Estrin (she/her) is the Senior Science Writer for the Global Alliance for Genomics and Health (GA4GH). With a background in environmental sustainability and a Master's in Science Communication, she is passionate about fostering greater public understanding and engagement in all realms of science.

ClinGen

Kyle is a software engineer developing services for the ClinGen project, primarily focused on enabling scalable data sharing and collaboration. He received his MS in Computer Science from North Carolina State University and joined the TGG in 2020. He previously worked on software for cloud genomics at UNC Chapel Hill and Stanford University.

O’Donnell-Luria Lab • Rare Disease Group

Vijay (he/him) is a postdoctoral fellow in the O'Donnell-Luria Lab and an attending neurologist and neuromuscular specialist at Brigham and Women's Hospital. His primary clinical interest is helping patients with genetic neuromuscular disorders. In the laboratory, he is investigating the genetic architecture of Mendelian myopathies using whole genome and RNA-sequencing methods. He is a member of the NIH ClinGen limb girdle muscular dystrophy gene and variation curation expert panels.

Twitter (@VGaneshMDPhD)

ClinGen

Vanessa (she/her) is a Research Assistant I for the Clinical Genome Resource (ClinGen). She graduated from Bryn Mawr College in 2022 with a degree in Biology. Her main interests include genetics research, neurological disorders, and biotechnology. In her free time, Vanessa enjoys reading, watching movies, and connecting with family and friends.

LinkedIn

gnomAD

Julia 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.

gnomAD

Riley (he/him) is an Associate Software Engineer working primarily on the Genome Aggregation Database’s (gnomAD’s) Web Browser features and UI. His interests lie in the usage of technology to benefit the public, through sharing of information and functionality while protecting user privacy and data.

BCL

Kat (she/her) is a licensed, board-certified genetic counselor and clinical genomic variant analyst in Broad Clinical Labs working as part of their clinical interpretation team for whole genome and panel-based testing. In addition, Kat is involved with genetic counseling student rotations and is a clinical instructor of Laboratory Methods and Diagnostics at the Boston University Genetic Counseling Training Program.

gnomAD

Kristen (she/her) is an associate computational scientist who works on developing methods for quality control and analysis of the Genome Aggregation Database (gnomAD) and rare disease cohorts.

GA4GH

Stephanie Li is the Marketing and Communications Manager for the Global Alliance for Genomics and Health (GA4GH). Stephanie oversees marketing and creative communications projects to demonstrate and communicate the impact of GA4GH.

O’Donnell-Luria • Rare Disease Group

Jialan Ma (she/her) is a Computational Associate II in the Translational Genomics Group. Prior to joining the group, she received her Master's degree from Carnegie Mellon University in computational biology and she had interned at Global Data Operations at Merck. She has experience developing, improving, and implementing genomics algorithms, building computational pipelines, and applying machine learning tools to analyze genomic data.

O’Donnell-Luria Lab • Rare Disease Group • gnomAD

Daniel (he/they) is an associate computational scientist working jointly with the gnomAD Methods Development Team and Dr. O’Donnell-Luria’s Lab. Prior to joining the Broad, Daniel had just graduated from the Illinois Institute of Technology in Chicago, IL with a BS/MS in Biomedical Engineering and Biomedical Data Science in May 2022. His current research project in the O'Donnell-Luria lab is investigating unannotated genes - genes with proteins that are translated in tissue yet are not included in large protein databases - and their potential role in rare diseases.

Rare Disease Group

Olfa is an Assistant Professor working at Institut Pasteur de Tunis in Tunisia in the field of Human Genetics. She is a young investigator in the Global Genomic Medicine Consortium, an alumna of the Arab-German Young Academy of Sciences and Humanities, and a member of the DNA Repair Interest Group.

During the last 17 years, Olfa has been working on the molecular basis of rare DNA-repair diseases. Her research activities paved the way for the set-up of prenatal diagnosis and genetic counseling for several life-threatening diseases. Furthermore, she has helped in the introduction of molecular diagnosis for several non-communicable diseases that are quite frequent in Morocco, Egypt, Libya and Algeria.

Olfa is currently focusing on ultra-rare diseases and is eager to learn about the process of discovering new genes for undiagnosed patients. This is what motivated her to enroll at Harvard Medical School as a student in the Master’s program ‘Medical Sciences in Clinical Investigation’ and to join O'Donnell-Luria Lab for her research project.

ResearchGate

gnomAD

Josh (he/him) is a senior software engineer with a focus on data engineering. He has worked at tech companies of various sizes and stages on data platform and infrastructure teams.

Rare Disease Group

Ashana Neale (she/her) is a board-certified genetic counselor and clinical genomics specialist for the Rare Genomes Project at the Broad Institute. She has experience in community outreach and in supporting underserved communities across a variety of settings. Ashana's passion is centered on promoting equitable access to genetic services and education, with an emphasis on improving the patient experience for underrepresented populations. She is committed to ensuring that all individuals, regardless of background, can benefit from advancements in genomic medicine.

Rare Disease Group

Emily (she/her) is a clinical genomic variant analyst working to discover novel disease genes and identify causal variants in rare disease exomes and genomes. She works closely with research and clinical collaborators from around the world to analyze and interpret genomic data and ultimately help diagnose patients with Mendelian diseases. Prior to joining the Broad, she worked in clinical cytogenetics and genomics laboratories as part of her undergraduate training in diagnostic genetic sciences.

LinkedIn

O’Donnell-Luria Lab

Briana (she/her) is a current Maternal Fetal Medicine and Genetics fellow in the combined program at Brigham and Women’s Hospital and Boston Children’s Hospital. She previously completed her OB/GYN residency at Brigham and Women’s Hospital/Massachusetts General Hospital, after receiving her MD from Tulane School of Medicine. Her primary research interests revolve around prenatal diagnosis, including fetal phenotyping and application of genomic technologies in the prenatal setting.

Rare Disease Group

Melanie (she/her) is the operations lead for the Rare Genomes Project and a principal clinical genomics specialist at the Broad Institute. She oversees the operational aspects of the project. She is a licensed, board-certified genetic counselor who has worked in a variety of clinical, research, and clinical laboratory settings.

LinkedIn

ClinGen

Terry (he/him) is a Principal Software Engineer with 30+ years of professional software development experience. Terry joined TGG in February 2019 and contributes software development and cloud infrastructure to numerous TGG projects. He received his MS in Computer Science from Boston University.

BCL

Andrea (she/her) is a clinical genomic analyst and genetic counselor in Broad Clinical Labs. Her interest is in the curation and interpretation of genomic variants, particularly for rare disease. She is also a biocurator for the Hearing Loss Clinical Domain Working Group within the Clinical Genome Resource (ClinGen). Andrea received her Bachelor's degree in Behavioral Neuroscience from Northeastern University and her Master's of Science in Genetic Counseling from Boston University. Prior to joining the Broad, she worked at both academic and commercial genetic testing laboratories.

Rare Disease Group

Lynn is a senior clinical genomic variant analyst focussed on interpreting exomes and genomes to identify causal variants in individuals with rare undiagnosed genetic conditions. She is also a board-certified pediatric genetic counselor and sees patients and families at Boston Children's Hospital.

Twitter (@lynnpais)

Samocha Lab

Ruchit (he/him) is a Computational Associate with a master's in Applied Physics from the University of Massachusetts Lowell. He has previous experience in building computational pipelines for Malaria Genomics at Broad Institute.

BCL • ClinGen

Kelley (she/her) is a Clinical Genomics Assistant working with Broad Clinical Labs and ClinGen. She received a B.S. in biology from Davidson College in 2024 with a minor in public health. She hopes to pursue a career in genetic counseling.

GA4GH

Angela (she/her) is the Chief Strategy & Engagement Officer for the Global Alliance for Genomics and Health (GA4GH). With more than 15 years of experience in genomics and communications, she drives global partnerships and develops strategies to advance data-sharing standards and frameworks that enable responsible and interoperable genomic research worldwide. Page received a bachelor’s degree from Bennington College in Chemistry and Literature.

Rare Disease Group

Alicia (she/her) is a Project Coordinator where she manages various operational aspects for the Rare Genomes Project and the Center for Mendelian Genomics. She has prior research experience working for a longitudinal research study and received her undergraduate degree in Health Science from Boston University.

Rare Disease Group

Pratiksha graduated with a bachelor's degree from Delhi Technological University, India and a master's degree in Data Analytics Engineering from Northeastern University, Boston. She has worked on research projects related to health equity at the Lab for Computational Physiology, MIT. Her research interest lies in rare disease research and improving patient outcomes through the applications of data science and engineering.

ClinGen

Julie (she/her) majored in Biology with minors in English and Environmental Studies at Northeastern University, class of 2023. As a member of the ClinGen team, her roles include working on the CvCuration project and curating variants/genes for a variety of expert panels including Hearing Loss, Congenital Myopathies, Tubulopathy, and Congenital Heart Disease panels. She originally started as an intern at the Broad through Northeastern’s co-op program in August 2022, since then she has been working at the Broad as a full-time paid affiliate. Julie is interested in pursuing a master's in public health and genetic counseling school to eventually become an official research assistant. She has really enjoyed learning about a variety of diseases involving different body systems and how genetics plays a role.

Genomic Medicine Unit

Olivia (she/her) is a Genetic Counselor Assistant for the Center for Genomic Medicine and the Preventative Genetic Counseling Service. She received a Bachelor of Science in Diagnostic Genetic Sciences with minors in Bioinformatics and Molecular and Cell Biology from the University of Connecticut. She previously completed a practicum rotation at the Laboratory for Clinical Genomics and Advanced Technology at Dartmouth Hitchcock Medical Center. Olivia is working towards pursuing a career in genetic counseling.

ClinGen

Pamela (she/her) is a genomics specialist and senior biocurator for the Clinical Genome Resource (ClinGen). This involves working with various ClinGen disease-specific expert panels and affiliated projects. Previously in Australia, Pamela was a clinical curation scientist in the ZERO Childhood Cancer Program. There she was involved in several aspects of the program including molecular analysis of germline and tumor sequencing data, molecular education, and research. She has also worked in industry settings at Genome.One, GenieUs and Genea. Pamela has a PhD investigating the molecular biology of microRNAs in Head and Neck Cancer.

O'Donnell-Luria Lab

Lindsay (she/her) received a bachelors in brain and cognitive sciences from MIT followed by an MD PhD in cell biology at UMass Medical School, where she studied mRNA alternative polyadenylation changes in Huntington disease. She then completed pediatrics residency at Boston Children's while researching noncoding variants in the MIT Burge lab. She completed her medical biochemical genetics fellowship, and is now a second year clinical genetics fellow at Boston Children's. She aspires to utilize research and patient-care expertise to enhance both clinical genetics and basic science research. Her clinical interests lie in patients who are undiagnosed after sequencing, and her research focuses on improving interpretation of noncoding variants.

TGG Operations

Yael (she/her) is the Operations Specialist for MPG, supporting general operations and event planning. She previously worked as an Operations Manager at MINNA Goods, where she led cross-functional teams to streamline efficiency, manage financial reporting, and lead employee development and engagement.

BCL

Areesha (she/her) is a genetic counselor and clinical genomic variant analyst with an interest in rare disease research and project management. Her primary role is within BCL, where she is working on the implementation of an end-to-end whole genome service.

Genomic Medicine Unit

Kristen (she/her) received her bachelor's degree from the College of the Holy Cross and her master's degree in Human Genetics from Sarah Lawrence College. She has been a practicing genetic counselor at the Massachusetts General Hospital Cancer Center’s Center for Cancer Risk Assessment (CCRA) since 1997. In addition to her clinical practice, Kristen has served on various subcommittees of the National Society of Genetic Counselors. She is also a member of the NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel. Kristen was an integral part of the Massachusetts Genetic Counselors Licensure task force and served on the Massachusetts Board of Licensure for Genetic Counselors for eight years. Kristen has lectured and published widely in the fields of cancer genetics and cancer genetic counseling. She is a professor and advisory board member for the Master of Science in Genetic Counseling program at the MGH Institute of Health Professions.

Rare Disease Group

Moriel (she/her) is a senior clinical genomic variant curator who co-leads the variant curation team and performs variant curations for a variety of projects within the TGG including the Rare Genomes Project, GREGoR, and prevalence studies. She is also working on establishing criteria for loss-of-function variant curation. Prior to joining the Broad Institute, she received her Master's degree in Animal Biology with a focus on equine genetics at the University of California - Davis.

O’Donnell-Luria Lab • Rare Disease Group

Mugdha (she/her) completed her doctoral training in population genomics and its applications in forensic and medical genetics at Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. She is currently a postdoctoral research fellow in the O'Donnell-Luria Lab, passionate about identifying mechanisms underlying rare genetic disorders. Her primary focus is the analysis of population and rare disease data to study the mechanisms of incomplete penetrance.

Rare Disease Group

Hana (she/her) is a senior software engineer working on building tools to facilitate rare disease research. She is the technical lead for our Seqr rare disease analysis platform. She studied computer science with a minor in engineering biology.

gnomAD

Matt is an Associate Director of Data Visualization at the Broad Institute who develops web applications for exploring large-scale genomic datasets. He was the initial developer of the gnomAD browser and led efforts to modernize the browser’s technology stack using scalable cloud infrastructure and engineering approaches for sustainable user interface development. He now oversees the gnomAD browser framework and a team of developers working on the infrastructure that supports multiple biobank and disease cohort sequencing projects.

BCL • ClinGen

Marcie is a board-certified and licensed genetic counselor and clinical genomics specialist in the Broad Clinical Labs, working as part of their clinical interpretation team for whole genome and panel-based testing. She is also the coordinator of the Low Penetrance/Risk Allele working group within the Clinical Genome Resource (ClinGen).

GA4GH

Senior Software Engineer

Samocha Lab

Yitang (he/him) is a postdoctoral research fellow in the Samocha lab. He completed a PhD in Genetics from the University of Georgia, an MPH in Biostatistics from the University of Florida, and a Bachelor of Medicine in Clinical Medicine from Henan University, China. His current research is dedicated to enhancing the interpretation of missense variants by integrating functional and structural genomic data. His primary goal is to improve diagnostic accuracy and expand our understanding of selective constraints across diverse diseases.

BCL

Diana (she/her) is the Associate Director of Broad Clinical Labs within the Genomics Platform. BCL is a CLIA/CAP accredited lab that performs whole genome sequencing (WGS) for the All of Us government initiative, WGS for other clinical projects, whole exome sequencing for somatic applications, and high-volume SARS-CoV-2 diagnostic testing. Diana manages a growing team of variant analysts focused on assessing variants and reporting for clinical cases. Diana is also a board-certified High Complexity Lab Director in Molecular Diagnostics through the ABB.

ClinGen

Kezang (she/her) is a Research Assistant I and biocurator for the ClinGen group, researching gene-disease associations. Before joining the Broad, she graduated from Wheaton College MA in 2022 with a degree in Biochemistry and Psychology.

Samocha Lab

Rachel is a postdoctoral fellow in the Samocha lab. She completed her PhD in Genetics at Stanford University, focusing on transcriptomics, rare genetic disorders, genome build, and the X-chromosome. She completed postdoctoral training at the Stanford Center for Biomedical Ethics, focusing on the bioethics of multiomic technology.

Wojcik Lab

Courtney (she/her) is a current neonatal-perinatal medicine fellow at Boston Children’s Hospital. She is also a medical geneticist. Courtney completed her BS in Biometry and Statistics with a concentration in statistical genomics at Cornell University. She obtained her MD at the Boston University School of Medicine. She then completed the combined pediatrics and medical genetics residency program at Stanford University. She is interested in expanding access to genomic testing, particularly in critically ill neonates, and improving the education of parents and non-genetics practitioners on genomics in clinical practice. She also has a particular interest in prenatal and neonatal structural renal malformations.

Genomic Medicine Unit

Anna (she/her) is a genetic counselor working at Mass General Brigham across a range of specialty clinics including the Preventive Genetic Counseling Service (PGCS), Pediatric Pulmonology, Adult Allergy/Immunology, and Adult Nephrology. She worked previously as an Associate Product Manager on the storage of genetic information and genetic counselor workflow.

Rare Disease Group

Ben (he/him) is a computational biologist working on methods for interpreting DNA sequencing data in the context of severe Mendelian diseases. His current focus is on RNA-seq and short tandem repeats.

Twitter (@benweisburd)

gnomAD • Rare Disease Group

Mike (he/him) is an associate computational scientist developing computational pipelines for rare disease cohorts, the Genome Aggregation Database (gnomAD), and the gnomAD Local Ancestry Inference project.

TGG Operations

Samie (she/her) is the Administrative Assistant for TGG, supporting Principal Investigators Heidi Rehm and Anne O'Donnell-Luria, along with over 70 TGG lab members. She assists with TGG’s overall operations and event planning. Previously, Samie worked as an admin at Beth Israel Deaconess Needham and received her BA in Communications from the University of Pittsburgh.

Harrison Brand is an Assistant Professor in Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School (HMS) with a research focus on the computational analyses of large-scale genomics datasets in developmental disorders. After receiving his PhD in Human Genetics from the University of Pittsburgh, he accepted a postdoc in the Talkowski Lab at the MGH Center for Genomic Medicine where he focused on developing novel methods for the detection of structural variation (SV) in whole genome sequencing. These methods have been incorporated into the popular GATK variant calling pipeline and applied to a variety of disease and population reference cohorts including the genome aggregation database (gnomAD). Upon completion of his postdoc, he started his own lab at MGH where he is actively exploring the genetic causes of structural birth defects and neurodevelopmental disorders.

Brand Lab

Mark Daly is the founding Chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and an assistant professor at the Harvard Medical School. Mark is also a Broad Institute Member and Co-Director of the Medical and Population Genetics (MPG) program where he leads many large-scale genome sequencing studies in autism and inflammatory bowel disease. Along with Dr. Rehm, he is co-PI of the gnomAD project and is committed to ensuring the output of all ATGU genomic research is maximally accessible and useful to the clinical and research communities.

Laboratory Director, Ambry Genetics; Visiting Scientist at Broad

Sanna completed her postdoctoral work in the O’Donnell-Luria lab from 2019-2022, with a focus on improving variant interpretation and predicting function using the gnomAD dataset.

Currently, Sanna is a researcher from SciLifeLab /Royal Institute of Technology (KTH), Sweden, collaborating with the O'Donnell-Luria lab. She is focused on improving disease diagnosis and treatment by enhancing our understanding of the variant-disease relationship and fundamental biological mechanisms. She has a special interest in factors that protect some carriers from severe disease, a phenomenon known as incomplete penetrance.

Arthur is a Postdoctoral Scholar in Medical and Population Genetics. His current work focuses on nominating pathogenic structural variants from patient whole genome sequencing data, as well as integrating single cell epigenomic data in disease-relevant cell types as a lever into non-coding disease biology.

Twitter (@arthurlee85)

Gabrielle completed her medical and residency training in medical genetics at Université de Montréal and did a clinical research fellowship with the Care4Rare Canada consortium at the University of Ottawa. She is now a Clinical Geneticist at the Children’s Hospital of Eastern Ontario.

Sarah did her postdoc in the O’Donnell-Luria lab from 2020-2025, working on exome and genome analyses for families with rare disease.

Daniel MacArthur served as the co-director of the Broad Institute’s 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.

Twitter (@dgmacarthur)

Chloe completed her PhD at the University of Toronto, focused on secondary findings from exome sequencing. From 2024-2025, Chloe was a Postdoctoral Fellow in the Rehm Lab and a senior biocurator with ClinGen. She is currently a Visiting Scientist from McMaster University, Canada.

Mike received undergraduate degrees in Biology and Psychology and a PhD in Human Genetics with a focus on genetic epidemiology and psychiatric genetics. He was appointed to the faculty of the Center for Genomic Medicine (CGM) and Harvard Medical School in 2011 and is now the Director of the Genomics and Technology Core at Massachusetts General Hospital. He also became an Institute Member at the Broad Institute of MIT and Harvard in 2018 and is currently the Director of the Broad Structural Variation Group. He is also a faculty member in the Harvard Biological and Biomedical Sciences (BBS) graduate program as well as the Bioinformatics and Integrative Genomics (BIG) program. In 2015, Mike received the MGH ECOR Scholars award.

Talkowski Lab

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.

Rare Disease Group

Chris Vittal is a Software Engineer for the Hail team at the Broad Institute which is used for analyzing large-scale genome data. Hail is maintained by the Neal lab and the Analytic and Translational Genetics Unit (ATGU) of Massachusetts General Hospital.

gnomAD

Rare Disease Group

Rare Disease Group

Rare Disease Group

Rare Disease Group

Rare Disease Group

gnomAD

Software Engineer

ClinGen

ClinGen

ClinGen

gnomAD

Rare Disease Group

Rare Disease Group

Rare Disease Group

gnomAD

Genomic Medicine Unit

Rare Disease Group

Genomic Medicine Unit

Rare Disease Group

Genomic Medicine Unit

O’Donnell-Luria Lab

Genomic Medicine Unit

Rare Disease Group

ClinGen

Rare Disease Group

Rare Disease Group • gnomAD

Genomic Medicine Unit

gnomAD

O’Donnell-Luria Lab • Rare Disease Group

O’Donnell-Luria Lab • Rare Disease Group

gnomAD • Rare Disease Group

O’Donnell-Luria Lab • Rare Disease Group

Rare Disease Group

ClinGen

Genomic Medicine Unit

Samocha Lab

Rare Disease Group

ClinGen

Rare Disease Group

Rare Disease Group

Rare Disease Group

Genomic Medicine Unit

TGG Operations

O'Donnell-Luria Lab • Rare Disease Group

O’Donnell-Luria Lab • Rare Disease Group

O’Donnell-Luria Lab

gnomAD • Rare Disease Group

Rare Disease Group

Rare Disease Group

O’Donnell-Luria Lab • Rare Disease Group

Rare Disease Group • Genomic Medicine Unit

O’Donnell-Luria Lab • Rare Disease Group • ClinGen

Rare Disease Group

Samocha Lab

Rare Disease Group

Rare Disease Group

gnomAD

Rare Disease Group

Rare Disease Group

Rare Disease Group

ClinGen

O’Donnell-Luria Lab

O’Donnell-Luria Lab

gnomAD • O’Donnell-Luria Lab

ClinGen

ClinGen

ClinGen

O’Donnell-Luria Lab • Rare Disease Group

Genomic Medicine Unit