Rare Disease Group

Siwaar Abouhala (she/her) is an incoming full-time Clinical Research Coordinator working on the Rare Genomes Project (RGP), an NIH-funded, direct-to-patient genome sequencing study. Siwaar graduated summa cum laude with highest thesis honors from Tufts University in May 2023, where she triple majored in community health, Arabic, and biology on the pre-medicine track. During her senior year, Siwaar completed a thesis in community health based on her research in the Departments of Newborn Medicine, and Genetics and Genomics at Boston Children’s Hospital, entitled: “Rare Yet Resilient: The Role of Neonatal Genetic Testing & Rare Disease Prognosis on Parental Psychosocial Outcomes, Coping Mechanisms, & Hospital System Recommendations.” She deeply enjoyed supporting patients and families experiencing rare genetic and/or metabolic disease, and is excited to continue similar work at the Broad.

Samocha Lab

Kaileigh (they/them) is a Computational Scientist within the Samocha lab.

gnomAD, O'Donnell-Luria Lab

Elissa is currently pursuing a computer science and business degree at Northeastern University. She is participating in a co-op role as a software engineer on the gnomAD browser team and in the O’Donnell-Luria lab. Her interests lie in the intersection of technology, medicine, and design. In her free time, Elissa enjoys cooking, running, and exploring new cities.

O’Donnell-Luria Lab

Mutaz (he/him) obtained his MBBS and Master's degrees in Molecular Medicine from the University of Khartoum (Sudan). He finished his PhD in Genetics at the University of Paris (France) studying the genetics of rare hereditary white matter diseases. He then worked for two years in Orphanet as a Geneticist/Gene curator and represented Orphanet in the international Consortium of Gene Curation Coalition (GenCC). He also was a member in the executive committee of the European Reference Network of experts on Intellectual disabilities (ERN-ITHACA). Mutaz is now a postdoctoral associate in the O’Donnell-Luria’s lab. He uses data from the gnomAD database to estimate the prevalence of rare diseases and helps in identifying rare disease diagnostics from exome and genome data. His research interests include rare disease genetics focusing on intellectual disabilities and neurodevelopmental disorders.

Rare Disease Group • Genomic Medicine Unit

Chrissy (she/her) is the Analysis Team Lead for the Broad's Center for Mendelian Genomics (CMG), where she manages a team of genomic variant analysts focused on identifying causal candidate genes and variants in genomic sequencing data. Chrissy is also a board-certified molecular geneticist who holds additional positions as a Clinical Molecular Geneticist at Massachusetts General Hospital, Assistant Laboratory Director at the Mass General Brigham Personalized Medicine Laboratory for Molecular Medicine, and Instructor in Pathology at Harvard Medical School. Her clinical and research efforts focus on the application of genomic sequencing technologies to the diagnosis of rare Mendelian disease.

LinkedIn • Twitter (@CAustinTse)

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) • Twitter (@babbLj)

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.

ClinGen

Ellie (she/her) is a Research Associate I and biocurator for the Craniofacial Malformations, Skeletal Disorders, Hearing Loss, Congenital Myopathies, and Syndromic Disorders Expert Panels. Prior to joining ClinGen, she graduated from Middlebury College in 2022 with a BA in Molecular Biology & Biochemistry and Gender, Sexuality, and Feminist Studies. Her interests lie in the intersections of genetics, medicine, and justice.

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)

O'Donnell-Luria Lab • Rare Disease Group

Colleen is a clinical molecular geneticist currently completing her pediatrics and medical genetics residency at Boston Children's Hospital. Her research interests include the delineation of rare genetic conditions and the optimization of clinical laboratory practices to ensure more accurate, timely, and equitable diagnoses. She is looking forward to learning from ClinGen, the Rare Disease Group, and O'Donnell-Luria group members. Colleen received her M.D. from UCSF, completed her ABMGG laboratory fellowship at the University of Utah/ARUP, and defended her PhD at Cold Spring Harbor Laboratory on the regulation of microRNAs during C. elegans development.

O’Donnell-Luria Lab • Rare Disease Group

Elizabeth (she/her) is a visiting research intern working on identifying disease-causing variants using long-read sequencing to diagnose rare genetic diseases. She is currently a medical student at UMass Chan Medical School. Before medical school, she graduated from MIT studying Brain and Cognitive Sciences and Biology.

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)

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.

ClinGen

Enyo is a Research Assistant I for ClinGen/TGMI. She graduated from Worcester Polytechnic Institute with a BS in Biochemistry and a Minor in Global Public Health. Her interests lie in disease research, epidemiology, and health policy. Outside of the Broad, she has been recently getting into new activities (jujitsu, swimming) and learning new skills (blogging, cooking).

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

Rare Disease Group

Carmen (she/her) is a clinical genomic variant curator who researches and classifies genetic variants identified through gnomAD, public databases, and rare disease genomics efforts to estimate the prevalence of rare disease in the global population. Prior to joining the Broad Institute, she received her Bachelor of Science in Biology and a minor in Hispanic Studies from Pepperdine University in Malibu, California. She hopes to pursue a career in genetic counseling.

O’Donnell-Luria Lab - Summer Intern

Cynthia (she/her) is an undergraduate at Wellesley College, class of 2024. She is double majoring in Biology and Women & Gender Studies. She is participating as an intern in the O'Donnell-Luria Lab under the Broad-Wellesley Program. Cynthia is interested in pursuing a master's in Public Health and attending medical school to become a physician.

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.

O’Donnell-Luria Lab

Sanna is a Wallenberg postdoctoral research fellow in the O'Donnell-Luria Lab, passionate about improving our ability to diagnose, care and understand rare diseases. Her primary focus is investigating mechanisms underlying incomplete penetrance in Mendelian disorders using large population data. By exploring the underlying mechanisms protecting some disease carriers from manifesting with the disease, she hopes to improve our ability to interpret the human genome.

Rare Disease Group

Stacey (she/her) is a Senior Project Coordinator where she manages various operational aspects for the Rare Genomes Project and Center for Mendelian Genomics.

ClinGen

Laboratory Director, Ambry Genetics; Visiting Scientist

gnomAD

Qin is a computational scientist working on designing and implementing the highest quality computational methods for large-scale genomic data in the gnomAD group. She finished her PhD in Montreal studying the genetics of psychiatric disorders in Pakistani consanguineous pedigrees and pursued her postdoc at INSERM in France working on the Omics data of ultra-high risk patients for psychosis.

Genomic Medicine Unit

Leland (she/her) is a general internist who sees patients in the adult general medicine clinic and MGH’s Preventive Genomics Clinic. Her research and clinical interests focus on preparing primary care providers to incorporate genomic medicine into their clinical practice.

gnomAD • Rare Disease Group

Steve is a Site Reliability Engineer working on keeping research platforms stable, performant, and secure. Steve has worked previously as an SRE for a Boston-based fintech startup, as well as a software engineer and systems administrator for research computing groups at MIT CSAIL and Harvard Medical School.

Rare Disease Group

Julia (she/her) is a full-stack software engineer working on the Seqr platform. Before joining the Broad, she studied Computer Science and Neuroscience at Wellesley College and worked at a tech company. In her free time, she enjoys knitting and hiking in the White Mountains of New Hampshire.

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.

Rare Disease Group

Katie is a Senior Project Manager who oversees the Rare Disease Group project management team. In addition to her role within TGG, she also helps to manage other consortium sequencing efforts including All of Us, GMKF, TOPMed, and previously CCDG.

O’Donnell-Luria • Rare Disease Group

Josephine (she/her) is a computer science undergraduate student at MIT working on the genetic prevalence dashboard within the O’Donnell-Luria lab.

O’Donnell-Luria Lab • Rare Disease Group

Gabrielle (she/her) 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 pursuing a research fellowship under the supervision of Anne O’Donnell-Luria. Her research interests include translational genomics and multiple malformations syndromes. Gabrielle performs exome and genome analyses to identify rare disease diagnostics and novel gene discovery. Her main project focuses on the identification of structural variants in cohorts of individuals with undiagnosed rare genetic diseases.

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

Eva (she/her) is a clinical project coordinator for the Rare Genomes Project. She studied Neuroscience as an undergraduate and has experience in patient care, community outreach, and patient-provider language interpretation services. Eva is interested in helping underserved communities and bridging the gap between language and access to healthcare.

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

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.

Rare Disease Group

Ike is a clinical genomic analyst assessing the disease consequence of genomic variation in individuals and families with rare disease through analysis of their exomes and/or genomes. Studying autistic children with self-injurious behavior, she received her doctoral degree in human genetics from Johns Hopkins University School of Medicine.

LinkedIn

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.

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.

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.

Northeastern Co-Op

Anabella (she/her) is a 3rd year Health Science major at Northeastern University, currently on the pre-med track. She is involved with the ClinVar Curation project during her co-op and possesses experience in patient care, administration, and community outreach. Anabella is very interested in exploring and learning more about genetics and the impact it has on medicine.

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.

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.

Rare Disease Group

Katie (she/her) is a clinical genomic variant curator who researches and classifies genetic variants identified through gnomeAD, public databases, and rare disease genomics efforts. Prior to joining the Broad Institute, she received her Bachelor of Science in Biology with a concentration in Biomedical Sciences and a minor in Models and Data from Trinity College in Hartford, Connecticut.

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.

TGG Operations

Lauren is a Senior Grants & Business Specialist and oversees the management of grants and finance for the TGG lab. She studied Health Management and Policy at the University of New Hampshire.

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.

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

Kayla (she/her) is a Postdoctoral Research Fellow within the Rare Disease Group. Prior to joining the Translational Genomics Group, Kayla completed her doctorate at Drexel University. Her research at the Center for Advanced Microbial Processing and the Center for Genomic Sciences was to identify novel biomarkers to detect pathogens within the complex microbiomes of several rising tick vectors and across the Borreliaceae family of spirochetes.

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.

O’Donnell-Luria Lab • Rare Disease Group

Sarah is a Postdoctoral Research Fellow in the O'Donnell-Luria Lab. She aims to identify disease-causing variants in genomic data for the diagnosis of patients with rare diseases. Her current work focuses on identifying mitochondrial DNA variants in seemingly Mendelian disease and variant combinations in undiagnosed patients with potentially underlying digenic disease.

Twitter (@SL_Stenton)

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.

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.

ClinGen

Ryan (he/him) is a Research Assistant I and biocurator for the Brain Malformations, Complement-Mediated Kidney Disease, Congenital Myopathies, DICER1, Glomerulopathy, Hearing Loss, RASopathy, Skeletal Disorders, Syndromic Disorders, and Tubulopathy Expert Panels. He graduated from the University of Vermont with a degree in biology with minors in health & society as well as chemistry and is interested in pursuing a career in biotechnology.

LinkedIn

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 TGG’s overall operations and event planning. Previously, Samie worked as an admin at Beth Israel Deaconess Needham and received her BA in Communications at 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.

Lauren is a board-certified clinical laboratory geneticist who holds positions as an Assistant Cytogeneticist at the Center for Advanced Molecular Diagnostics at Brigham and Women’s Hospital and Instructor in Pathology at Harvard Medical School. Before joining the faculty of Brigham and Women’s Hospital, Lauren completed her Laboratory Genetics and Genomics Fellowship at Mayo Clinic and earned her doctorate at Cornell University.

Laura Gauthier 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. Since joining the Broad Institute in 2014, Gauthier has been a contributor to the institute's Genome Analysis Toolkit (GATK), including variant discovery tools such as the HaplotypeCaller and MuTect2. Her work also includes developing computational methods for separating real genetic variants from artifacts in high-throughput sequencing data. Recently she has been focused on enabling the production and analysis of variant datasets for unprecedentedly large cohorts like ExAC and gnomAD. Since August 2015, Gauthier has worked with the MacArthur Lab on the development and optimization of variant-calling pipelines for rare disease samples for the Centers for Mendelian Genomics.

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)

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)

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