Raymond is an Instructor in Investigation and Group Leader overseeing statistical methods research in the Neale lab. Prior to joining ATGU and the Broad Institute, Raymond earned his Ph.D. in Quantitative Psychology from the University of Notre Dame in 2014. His current research focuses on evaluating the structure of common variant associations across traits and diseases in the population, between groups, and within families. As an analyst for the Psychiatric Genomics Consortium (PGC) ADHD and Substance Use Disorders workgroups, Raymond also works to identify and apply statistical best practices for GWAS of psychiatric disorders.
Alice is a visiting undergraduate student in the Huang lab. Her current research interest is in unveiling the genetic underpinnings of complex neuropsychiatric disorders. Her future aspiration is to potentially bridge the gap between conducting research and helping patients. She is now conducting meta-analysis across the European and East Asian schizophrenia datasets and focusing on data quality control.
Dr. Talkowski is the Director of the Center for Genomic Medicine (CGM) of Massachusetts General Hospital (MGH), Associate Professor of Neurology at Harvard Medical School, with cross-appointments in Psychiatry and Pathology, and the MGH Desmond and Ann Heathwood Research Scholar. Dr. Talkowski is also an Institute Member of the Broad Institute of Harvard and MIT in the Program in Medical and Population Genetics and the Stanley Center for Psychiatric Research. Dr. Talkowski’s research program is dedicated to the characterization of genomic variation in medical and population genetics, with a focus on the impact of alterations to genome structure and function in the etiology of human developmental and neuropsychiatric disorders. Dr. Talkowski’s lab integrates computational methods to discover variation and a molecular genomics group to determine its functional consequences. He also directs the Genomics and Technology Core of MGH and leads a Structural Variation group at the Broad Institute.
Dr. Talkowski was a pioneer in the application of sequencing technologies to define the landscape of chromosome abnormalities at sequence resolution, and led efforts to create an expansive atlas of structural variation and complex chromosomal rearrangements across human populations, initially in autism spectrum disorder (ASD) families and later in the genome aggregation database (gnomAD). Dr. Talkowski co-leads several consortia dedicated to exploring the complete genetic architecture of ASD, as well as to develop new technologies for translational applications in prenatal and pediatric genetic diagnostics. These studies have collectively represented a hub of gene discovery in ASD, Mendelian disorders, and congenital anomalies, and have led to the development of novel approaches to leverage genome engineering technologies to model structural variation and alterations to three-dimensional genome organization.
Aarno Palotie is a faculty member at the Center for Human Genome Research at the Massachusetts General Hospital in Boston, an associate member at the Broad Institute of MIT and Harvard, and research director of the Human Genomics Program at the Institute for Molecular Medicine Finland (FIMM) in Helsinki.
The overall goal of Palotie´s group is to improve the understanding of the genetic mechanisms underlying common diseases. Much of the group’s work draws on the unique clinical- and population-based samples collected from the Finnish founder population. One of the main focus areas is genetics of neurological, neurodevelopmental, and neuropsychiatric traits.
The long lasting geographical and linguistic isolation, internal migrations, famines and rapid, recent expansions have molded the population structure of Finland for thousands of years. Such population isolates provide exceptional opportunities for identification of genome variations underlying disease traits. Because Finland’s unique population structure is combined with the one-payer health care system, the harmonized training of physicians, and tradition in epidemiological research, the country has become one the most interesting places for genetic epidemiology. The availability of large sample collections (www.nationalbiobanks.fi), mostly performed by the Institute of Health and Welfare (THL, www.thl.fi), has stimulated large international collaborative projects such as the SISu project (Sequencing Initiative Suomi) that combines most of the large-scale sequence data produced worldwide. The aim is to construct a large genome data resource that facilitates the development of strong genome medicine programs.
Diseases of specific interest in the Palotie group are migraine, schizophrenia, epilepsy, their comorbidities, and some cardiovascular traits. The wealth of multiple large study samples enables the group to use different study designs for genome variant identification and verification and for the estimation of the size of the effect contributed by the variants. These include large collaborative genome wide association (GWA) and sequencing studies, and studies that utilize family structures and extreme population bottlenecks to identify low frequency variants.
Palotie received his M.D. and Ph.D. degrees at the University of Oulu, with his specialty in clinical chemistry at the University of Helsinki. His past positions include professorships at the University of Helsinki and University of California, Los Angeles (UCLA), director of the Finnish Genome Centre at the University of Helsinki, and senior group leader at the Wellcome Trust Sanger Institute.
Heidi Rehm, PhD, Chief Genomics Officer, Department of Medicine, MGH
Professor of Pathology, MGH, BWH, and Harvard Medical School
Medical Director, Broad Institute Clinical Research Sequencing Platform
Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital (MGH) working to integrate genomics into medical practice with standardized approaches. She is a board-certified laboratory geneticist, Medical Director of the Broad Institute Clinical Research Sequencing Platform, and Professor of Pathology at Harvard Medical School, using these roles to guide genomic testing for clinical and clinical research use. She is a leader in defining standards for the interpretation of sequence variants and a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics with Anne O’Donnell focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as vice-chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the US and co-leading the gnomAD database.
More information about her work can be found at:
Laboratory Website: RehmLab.org
Broad Center for Mendelian Genomics https://cmg.broadinstitute.org
Rare Genomes Project https://raregenomes.org
Matchmaker Exchange http://www.matchmakerexchange.org
All of Us Research Program https://www.joinallofus.org
Broad CRSP http://genomics.broadinstitute.org/products/clinical-research-sequencing-platform-crsp
Rehm received her bachelor's degree from Middlebury College in Molecular Biology and Biochemistry. She completed her PhD in Genetics at Harvard University studying the genetic and pathological basis of Norrie Disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Massachusetts General Hospital and Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss.
Dr. Kaitlin Samocha is an Assistant Professor at Massachusetts General Hospital and an Associated Scientist at the Broad Institute of MIT and Harvard. She is on the steering committee for the Genome Aggregation Database (gnomAD), and is part of the Translational Genomics Group at the Broad Institute. The focus of her research career has been on developing methods and statistical tools to improve interpretation of genetic variation, particularly rare variation. She created a mutational model to predict the expected number of newly arising (de novo) variants that has been leveraged to associate dozens of genes with autism spectrum disorders, congenital heart disease, and schizophrenia, among others. As a way to aid variant interpretation, Dr. Samocha developed metrics to measure a gene’s tolerance to mutational changes, including the pLI score that was used to identify thousands of genes intolerant to loss of a single functional copy. Additionally, she led an international consortium studying developmental disorders and identified ~300 significantly associated genes, including 28 that had not been robustly tied to these disorders. Dr. Samocha received her Ph.D. in Genetics and Genomics in 2016 from Harvard University and trained as a postdoctoral fellow at the Wellcome Sanger Institute.
Samocha Lab website
Dr. Zhou is an Instructor at the Broad Institute of Harvard and MIT co-advised by Dr. Mark Daly and Dr. Benjamin Neale. She earned her Ph.D. in Bioinformatics under the direction of Dr. Cristen Willer and Dr. Seunggeun (Shawn) Lee. Her dissertation focused on the development and application of statistical methods for large-scale genetic association studies. She is currently working on a meta-analysis of global large-scale biobanks.
Sinead is a Director, Global Genetics Project Management at the Stanley Center for Psychiatric Research. She manages the Stanley Center Project Management team and works closely with Broad’s central administrative offices and Genomics Platform to facilitate collaborations, sample management, compliance, data generation and process optimization. Her primary areas of focus in the Neale lab are Stanley Global Psychosis Projects and Bipolar Disorder. She earned her BSc in Biochemistry from the University of Limerick, a MSc in Bioinformatics from Abertay University, and an ALM in Management and Operations from Harvard University. She is also PMP certified from the Project Management Institute.
Sam heads the Data Management group at the Stanley Center where he is responsible for managing over 500 terabytes of data. He is naturally curious, has a love for science and computers, and enjoys a good challenge. He's a 'data wrangler' - herds data to logical working groups and lower cost storage tiers; brings visibility to the data footprint at the Stanley Center; builds pipelines for the retrieval and sharing of data; and works with other 'data wranglers' to leverage knowledge, tips and tricks, storage strategies and more. He has played a key role in enabling the Neale lab's UK Biobank GWAS results to be rapidly and easily shared with the wider community.
Claire completed a doctorate in the department of Statistics at Oxford University, under the supervision of Jonathan Marchini, where her thesis work focused on statistical methods of ancestry deconvolution in admixed populations. She joined to the Broad Institute in 2012 as a postdoc in David Altshuler’s group where she developed QC methods for untargeted metabolomics data, and studied associations between the metabolome, genetics, and type 2 diabetes risk. In early 2015 Claire joined the Neale group as Scientific Advisor, responsible for helping to drive and implement the scientific strategy of the group and for supporting group members across a diverse range of projects.
Dan Howrigan, PhD, Research Scientist and Data Group Leader
Daniel oversees the SNP array and sequence analysis pipeline in the Neale lab, with a primary focus on furthering genetic discovery in complex psychiatric disease through collaborative partnerships and high-throughput data analysis. His post-doctoral research has been focused on deciphering the role of rare genetic variation in schizophrenia. Daniel received his PhD in 2012 from the University of Colorado, Boulder (supervised by Dr. Matthew Keller and Dr. Matthew McQueen). During his time in Colorado, his research investigated the detection of autozygosity (a genetic signature of inbreeding), and its role in general cognitive ability and schizophrenia liability.
Dan is the Associate Director of the HAIL team. He is interested in developing libraries and languages that provide a natural and high-performance mode of interaction for scientists. He has previously worked at a local software start-up and studied for a (incomplete) PhD in Programming Languages.
Cotton Seed is a Senior Advisor to the Hail team at the Broad Institute of MIT and Harvard. Prior to joining the Broad, he did a PhD in Mathematics at Princeton University and spent over a decade building high-performance computing systems with a focus on advanced compiler technology at Connected Components Corp, Intel, and Reservoir Labs, among others.
Christine Stevens, a Senior Project Manager, joined The Broad Institute in 2003. Christine possesses a diverse knowledge of genomic technologies, and analyzes, and has strong experience in funding regulations and compliance. She is well versed in project management, high-throughput processes, and large-scale data. Christine oversees the Autism and Inflammatory Bowel Disease genetics projects.
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.
Mingrui Yu is an Associate Computational Biologist working in Hailiang Huang's lab. Mingrui is interested in developing novel statistical methods that generate new insights into how genetic variants contribute to highly polygenic traits.
Ran Cui is a computational scientist in the Neale and Daly lab. Prior to joining the ATGU and Broad, Ran earned her Ph.D. in mathematics from University of Maryland, College Park. She is currently working on improving multiple causal variant fine-mapping methods through better modeling and benchmarking. She is interested in statistical method development for analyzing and understanding human complex traits.
Bob is an Associate Computational Biologist in the Neale Lab. He completed his BS degree in Applied Mathematics and Statistics, as well as his MSE degree in Data Science at Johns Hopkins University in 2022. He is broadly interested in the development of pipelines and the analysis of genomic data.
Zhenglin Guo is a project manager at Broad Institute of MIT and Harvard. She’s currently working on several large sample collection projects collaborating with Asia sites. Her main focus is on project management and research compliance. She often travels to Asia countries to on-site monitor study and assure research is conducted to comply with IRB and federal regulations. She’s also involved in phenotyping design, study logistics and data quality control. In daily work, she facilitates communication between Broad and collaborators, keeping track of project progress and helping with administrative work. Before joining Broad, she worked on cancer clinical trials at Beth Israel Deaconess Medical Center. She received her Master's degree in epidemiology at the University of Texas Health Science Center at Houston and completed medical training at Southern Medical University in China.
Zhili Zheng is a computational scientist in the Daly lab, working primarily with the FinnGen team. Prior to joining the Broad and ATGU, Zhili obtained M.D and Ph.D, and worked as Ophthalmologist and Postdoc in statistical genetics. He possesses a wide range of expertise and interests, including clinical medicine, high-performance computing, statistical method development for genomic discovery and prediction, as well as exploring human complex traits.
Zade is an MD student in the Harvard-MIT Program in Health Sciences and Technology. He completed his undergraduate degree in Mathematics at Yale in 2022. Zade is broadly interested in statistics, and his work in the Neale lab focuses on genetic power calculations for cellular phenotypes.
Felecia Cerrato is an Associate Director, Nuerobiology Projects in the Stanley Center for Psychiatric Research at the Broad Institute. She supports the Neale lab in management of large-scale DNA sample aggregation, IRB approvals and compliance, genomic data generation, and data sharing efforts across many initiatives including the Psychiatric Genomics Consortium (specifically in ADHD and OCD) and the Epi25 Collaborative. She completed an MPH in Public Health Genetics at the University of Washington, and she is PMP certified from the Project Management Institute.
Riley is an associate software engineer working 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. He received his M.S. in Computer Science from Northeastern University.
Caroline Cusick is a Project Manager for genetics projects at the Stanley Center for Psychiatric Research at the Broad Institute. She currently works on large-scale data generation and aggregation in Neurodevelopmental Disorder and Schizophrenia research, IRB approvals and compliance, and data sharing through various portals (including AnVIL and dbGAP) with the greater scientific community. She completed an MS in Molecular and Cell Biology at Brandeis University and a BA at Mount Holyoke College. She is PMP certified by the Project Management Institute.
Mark builds & maintains data pipelines for the Stanley Center's Data Strategy and Solutions team. Prior to joining the Broad Institute, he worked at an economic research firm. He earned a Masters in Economics from Duke University following a B.S. in Mathematics and Economics from Bridgewater State. Outside of work, Mark enjoys cooking and taking on home repair projects.
Grant is an Associate Computational Biologist I in the Neale Lab. He is interested in leveraging numerical and statistical methods to estimate genetic contributions to psychological traits. He graduated from Northeastern University in 2022 with a BS in Mathematics and Computer Science.
Lauren is a Data Engineer in the Stanley Center at the Broad Institute. Prior to joining the Broad Institute, she worked as an analyst in city planning. She earned her Ed.M. in Learning Design, Innovation, and Technology from the Harvard Graduate School of Education and her B.A. in Data Science from UC Berkeley.
Connor is a Computational Associate I in the Neale Lab. He is interested in studying the impact of genetics on complex human traits, behavior, and disease through the analysis of genomic data. He graduated from Harvard College in 2023 with a BA in Applied Mathematics and Biology.
Sophie is a computational associate in the Karczewski and Martin labs. She is interested in creating deep learning models from genomic sequencing data. She completed a BS in Computer Science and a MS in Biomedical Informatics, both at Stanford. She is passionate about the intersection of computer science and medicine.
Yue Shi is a research fellow in Dr. Alicia Martin’s lab. She obtained with an MD degree from Sun Yat-sen University, specialized in Reproductive Medicine. Her MD research focused on the Application of Whole-exome Sequencing for Precision Medicine Research on Female Reproduction. She is widely interested in uncovering the genetic basis of diseases and exploring the clinical application of genetic risk factors. Outside of work, she enjoys a variety of sports activities, including Taekwondo, swimming, tennis, and badminton.
Patrick is an Associate Computational Biologist in the Neale lab, working primarily with the Hail Team. He is interested in developing tools that enable large-scale data analysis. He received his MS in Statistics from Oregon State University in 2020, and his BS in Applied Mathematics and Earth Sciences from Syracuse University in 2018. He previously spent four years in the United States Air Force as an aircraft mechanic.
Jackie Goldstein, Senior Software Engineer-Technical Lead
Jackie Goldstein is an Senior Software Engineer and is a member of the Hail team. Her previous work included developing a rare variant caller for genotyping arrays and finding genetic risk factors for adverse drug events such as clozapine-induced agranulocytosis and drug-induced liver injury. She also contributed to the design of the PsychChip array and the subsequent genome-wide association studies for the Psychiatric Genomics Consortium.
Daniel is a Software Engineer on the Hail Team. He is interested in developing
ergonomic, fast and cost-effective software systems for scientific computing.
Daniel received his BS in Computer Science and Mathematics from Northeastern University in 2020.
Bram is a computational scientist in the Karczewski Lab at the Broad Institute. He received his PhD in operations research from Tilburg University. He was an assistant professor at VU Amsterdam where he created and gave courses on big data and on convex optimization. He developed Nymph, the fastest exact inverse planning algorithm for radiation therapy, which is currently used by Massachusetts General Hospital. Previously he worked in the Fishell lab on, i.a., discovering enhancers.
Zan is a Computational Associate at the Broad Institute. They are interested in creating community tools which contribute to overall global health equity. Under the mentorship of Alicia Martin, they are working on running analyses and developing tools for datasets with diverse ancestry populations such as NeuroGAP-Psychosis, HGDP, and the 1000 Genomes Project.
Mita is a software engineer transformed into bioinformatician with general research interests in application of genomic and computational methods to elucidate the genetic basis of complex diseases. His current projects focus on intellectual disability, Alzheimer’s disease, familial migraine and intracranial aneurysms. A long-term goal of his research is in development of Finnish genetic reference database (http://www.sisuproject.fi/) and nation- and phenomewide genetic analyses utilizing extensive Finnish health care registries. He is leading the genetic analysis team in a large project, which aims to genotype 500 000 Finns and couple the genetic data with health registry data of each participant. These activities will contribute to a reference database used in rare variant studies, powerful phenome-wide association studies elucidating genetic basis of health and disease and eventually hopefully as a step in realizing the promise of personalized medicine in the future.
He has previously worked as a software engineer in startup environment, researcher in laboratory of functional genomics and bioinformatics, University of Eastern Finland and as a bioinformatician in NeuroCenter,Kuopio University Hospital, Finland. "
Ruize Liu is a Postdoc in the Stanely Center at the Broad Institute of MIT and Harvard and the Analytic and Translational Genetics Unit at Massachusetts General Hospital, advised by Dr. Mark Daly and Dr. Hailiang Huang. His research focuses on studying the regulatory function of genetic associations in complex disorders including schizophrenia and inflammatory bowel diseases. He is interested in developing novel analyses to understand the functions of the non-coding genome that are implicated by complex disorders. His research focuses on designing computational tools to integratively combine large-scale genetic, expression, transcriptome and epigenome data to drive the study. He developed novel analyses to find genomic variants regulating exon-skipping and isoform balance in a genome-wide fashion by integrated analysis large-scale genetic and expression data. He earned his Ph.D. from the Animal Genetics and Breeding at the Huazhong Agricultural University.
Wenhan is an Associate Computational Biologist in the Neale Lab at the Broad Institute. She earned her MS Degree in Biostatistics at Yale University in 2020. She is interested in analyzing genetic data for their impacts on human traits, as well as building pipelines for quality control and data virtualization.
Lindo is an Associate Computational Biologist in the Neale Lab. He is interested in the analysis and visualization of genomic data. Lindo completed his Honours degree in Bioinformatics in 2019 and his project was on assessing the sensitivity and accuracy of various variant callers in African populations.
Tim Poterba, Senior Software Engineer- Techincal Lead
Tim Poterba is a Senior software engineer working on the Hail project in Ben Neale's group at the Broad Institute and Massachusetts General Hospital. His primary interest is the application of modern computing technology to accelerate biomedical research. Prior to joining the Broad, he studied protein folding dynamics at the Max Planck Institute for Biochemistry on a Fulbright Scholarship. He received his B.A. in Biochemistry and Biophysics from Amherst College in 2013.
Kyle Satterstrom is a computational biologist in the Daly group at ATGU and the Broad Institute of MIT and Harvard. His work focuses on aggregating and analyzing whole exome sequence data to study the genetic risk factors associated with autism spectrum disorder. Prior to joining ATGU, Kyle received his PhD in bioengineering from Harvard in 2015. He conducted his dissertation research in the laboratory of Marcia Haigis at Harvard Medical School, where he studied genes involved in the regulation of metabolism and longevity.
Patrick Schultz recently joined the Hail team as a software engineer. Patrick is especially interested in the intersection of math and computer science and recently posted a NASA-funded book on his postdoctoral research in mathematics at MIT (https://arxiv.org/abs/1710.10258). He is excited to bring theory to practice for scientists by helping to build a better Hail.
Matthew Solomonson, Associate Computational Biologist I
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.
Mary is an associate computational biologist at the Broad Institute. She is originally from Addis Ababa, Ethiopia. She completed her undergraduate study at Clark University in 2019 and graduated from Boston University in 2020 with an MS in bioinformatics. She plans to work on projects that allow her to apply her classroom knowledges/experiences while acquiring new ones. She is interested in the application of bioinformatics in medicine and hopes to eventually go back and work in her home country.
Yixuan (pronounced yi-shwin) is a postdoctoral research fellow in Dr. Alicia Martin’s lab. She did her PhD in Bioinformatics and Integrative Genomics at Harvard Medical School as a NSF graduate research fellow. Her PhD thesis focused on new methods to integrate environmental and clinical data to predict disease risk. She is broadly interested in developing methods that combine clinical, genetic, and other non-genetic risk factors from large-scale datasets to predict disease risk across diverse populations. Outside of lab, she loves to bake and play with her Australian shepherd.
Soyeon is a Postdoctoral Research Fellow in Dr. Hailiang Haung’s lab at ATGU and the Broad Institute of Harvard and MIT. She earned her Ph.D. in Digital Health from Sungkyunkwan University, where she studied psychiatric genetics by leveraging genome-wide association studies and whole-exome sequencing data analysis. Her primary interest is investigating the genetic architecture of psychiatric disorders such as schizophrenia and bipolar disorder to discover biological insights across populations. She is currently working on variant association analysis of schizophrenia in Asian ancestry.
Lerato Majara is a Postdoctoral fellow in Alicia Martin's lab. She has a background in Medical Microbiology having completed her undergraduate and MSc degrees in this field. She slightly shifted fields to pursue a PhD in Human Genetics at the University of Cape Town (UCT). Her PhD thesis investigated the genetic risk factors associated with schizophrenia in the South African Xhosa population. She is an alumni member of the Global Initiative of Neuropsychiatric Genetics Education and Research (GINGER) programme at Harvard T.H. Chan School of Public Health, and currently pursuing a Postdoctoral fellowship on the Neuropsychiatric Genetics in African Populations (NeuroGAP) project. When she is not doing research, she tutors mathematics to high school learners for a non-profit organization called Fun Learning for Youth (FLY). She also enjoys running on road and trail, hiking and visiting food markets in her downtime.
Rui Zhang is a postdoctoral fellow in the Massachusetts General Hospital and the Broad Institute of Harvard and MIT, advised by Dr. Hailiang Huang and Dr. Tian Ge. She earned her Ph.D. in Computational Biology from the University of Chinese Academy of Sciences. Rui’s research focuses on developing novel statistical genetics and computational methods for human genetics research, with a special focus on methods for admixed populations. She also actively applies computational methods on large-scale genomics dataset to investigate the genetic basis of human complex disorders and traits, with a special focus on psychiatric disorders, autoimmune disorders and the Asian populations.
Evan is a postdoctoral research fellow co-advised by Drs. Benjamin Neale and Jordan Smoller. Prior to joining ATGU, he completed a Ph.D. in clinical psychology with a concentration in quantitative psychology at the University of Virginia, and a clinical internship at McLean Hospital/Harvard Medical School. Evan's dissertation examined gene-environment interplay across typical cognitive development. His postdoctoral research integrates electronic health record (EHR) and genomic data to investigate the etiology, course, and outcomes of psychotic disorders.
Siwei is a Postdoctoral Research Fellow in Dr. Benjamin Neale’s lab at ATGU and the Broad Institute of Harvard and MIT. Prior to joining the ATGU, Siwei earned her Ph.D. in Computational Biology from Cornell University, where her dissertation focused on identifying and interpreting disease mutations in the human protein interactome. Siwei is widely interested in studying the genetic basis of human diseases and is currently working on whole-exome/genome genetic variation analysis to understand how genetic risk translates into biological mechanisms.
Franjo is a research fellow at ATGU and the Broad Institute of Harvard and MIT. They are advised by Benjamin Neale and co-advised by Jeremiah Scharf. Franjo recently completed a Ph.D. in genetics and genomics at the University of Florida, where they studied the genetic architecture of neurodevelopmental disorders like Tourette syndrome and OCD. Their interest is predominantly focused on the crossroads of statistics, genetics, anthropology, and psychiatry, and understanding of the complex relationships between genomes and phenomes.
Cal is a research fellow who joined the ATGU in March 2022, where he is co-advised by Drs. Benjamin Neale and Michael Talkowski. Cal completed a Ph.D. in Human Genetics from McGill University, focusing on identifying novel genetic and molecular insights for neuropsychiatric disorders. He is excited to investigate the genetics of bipolar disorder and has a strong interest in the functional characterization of genetic variation.
Julia is a research fellow who joined ATGU in May 2022. She completed a PhD in Human Genetics from Vanderbilt University where she studied the relationship between depression polygenic scores and lab traits extracted from electronic health records. As a research fellow in the Neale lab, she will be working on rare variant analysis of schizophrenia across diverse ancestries.
Ying is a postdoctoral research fellow in Dr. Alicia Martin’s lab. She did her PhD in statistical/quantitative genetics at the University of Queensland. During her PhD, she worked on the application of genomic prediction methods in diverse ancestry populations and development of such methods to improve transferability of polygenic scores in trans-ancestry predictions. She has a broad interest in research areas related to multi-ancestry studies and population genetics.
Kai Yuan is a postdoctoral fellow in the Massachusetts General Hospital and the Broad Institute, advised by Dr. Hailiang Huang. He obtained his PhD in computational biology from the Partner Institute for Computational Biology, Chinese Academy of Sciences. During his PhD training, he worked on population genetics, especially for the admixed populations and developed several methods to infer population evolutionary history.
His research interests focus on developing statistical methods to elucidate the genetic architectures of psychiatric and autoimmune disorders in populations of complex ancestral background. He tries to combine evolutionary and population genetics models with association studies to understand human complex disorders. He is developing a haplotype-based model to describe the relationship between genomics and human complex traits and trying to apply this model to disease risk prediction cross populations.
Nina Mars, MD, PhD, is a postdoctoral fellow, with her research focusing on genetic risk prediction of common diseases and integration of genomics into clinical practice. Her current research focuses on using large-scale clinical and biobank data to understand genomic influences on cancer risk and prognosis. At ATGU and the Broad Institute of Harvard and MIT, she is mentored by Dr. Benjamin Neale. She also affiliated as a postdoctoral fellow at Institute for Molecular Medicine Finland.
Autumn provides administrative support to Alicia Martin and Hilary Finucane, and their labs in their administrative and research efforts as part of a growing administrative team spanning two institutions, MGH and the Broad Institute. Autumn has been working in ATGU since March 2022.
Jill provides administrative support to Mark Daly, the Chief of ATGU, and his lab in their administrative and research efforts as part of a growing administrative team spanning two institutions, MGH and the Broad Institute. Jill has been working in ATGU since 2010. Jill received a bachelor's degree at the University of Massachusetts, Lowell.
Carla provides administrative support to Benjamin Neale as well as the Neale Lab in their administrative and research efforts as part of a growing administrative team spanning 2 institutions, MGH and the Broad Institute. Carla has been working in ATGU since August of 2013.
Elizabeth Raynard, Administrative and Grant Manager
Beth manages the administrative and grant activities of the Unit that span the Massachusetts General Hospital and Broad Institute. She works with various departments at both institutions for Appointments and on boarding, International Offices for visa processing, Institutional Billing Agreement execution, Grant preperation etc. She has been working at MGH since 2007.
Celia is a Research Scientist I with the Robinson lab, where she is working on common and rare variant additivity in Autism Spectrum Disorder (ASD). The inheritance of common variants associated with ASD from unaffected parents to children affected with ASD is highly complex and can contribute to the heterogeneity of the disorder. By understanding the patterns of transmission in subgroups of individuals with ASD, we can better classify which groups of ASD cases are more etiologically similar and in doing so improve downstream analysis designs and treatment of this disease. Celia obtained her PhD in Human Genetics at the University of Stellenbosch in Cape Town, South Africa, in 2015. Thereafter, she completed a 3-year postdoc at the University of Cape Town. Celia is also a research fellow in the Global Initiative for Neuropsychiatric Genetic Education in Research.
Samantha Baxter, Genetic Counselor/Clinical Project Manager II
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.
Andrea is a FIMM-EMBL group leader at Institute for Molecular Medicine Finland (FIMM) and a research associate at Massachusetts General Hospital, Harvard Medical School. Andrea's research interests lie at the intersection between epidemiology, genetics, and statistics. He leads a diverse group of 18 researchers including biologists, mathematicians, and medical doctors. He is a winner of an ERC starting grant and the Leena Peltonen Prize for Excellence in Human Genetics. He is co-leading two major international consortia: the COVID-19 host genetic initiative, the largest human genetic study of COVID-19, and the INTERVENE consortium, which aims to integrate AI and human genetics tools for disease prevention and diagnosis across biobanks in Europe. He has also initiated the FinRegistry project, one of the most comprehensive registry-based health studies in the world. His research vision is to integrate genetic data and electronic health records to enhance the early detection of common diseases and improve public health interventions.
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.
I am a "Research Scientist" at the Stanley Center (and Group Leader at the Cologne Center for Genomics).
“Why did the patient develop this disease?” “Will the patient respond to this medication?” “Can we predict the disease prognosis?” “What is the underlying mechanism?”
My long-term research interests involve the development of a comprehensive understanding of how alterations in the genome contribute to brain disorders. My academic training and research experiences have provided me with an excellent background in multiple disciplines including molecular biology, genetics, and bioinformatics as well as a comprehensive understanding of the clinical and neurological presentation of neuropediatric disorders. Overall, the main focus of the group that I lead is the discovery, evaluation, and translation of genetic variants into clinical care. Specifically, we aim to develop computational methods which integrate large genetic, clinical, and biological data sets to improve the prediction of genetic variant effects on patient outcomes – paving the way for personalized medicine.
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.
Melanie is a genetic counselor and the senior clinical manager for the Rare Genomes Project. Her background spans clinical care, research coordination, and clinical laboratory settings. She is involved in multiple aspects of the project including leading the return of results to families enrolled in the study.
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.
Michael Wilson, Associate Computational Biologist I
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.
Hannah is a PhD in the Department of Biology at MIT. Co-advised by Hilary Finucane and Chris Burge, her research seeks to uncover the molecular mechanisms of psychiatric disorders by investigating non-coding variants that alter pre-mRNA processing and gene expression.
Yu Chen is a visiting graduate student in Hailiang Huang's lab. Yu is sponsored by Central South University a national university of China located in Changsha, Hunan. Yu is interested in the genetics of psychiatric disorders, especially schizophrenia. Yu's work focuses on studying and comparing the genetic regulation of gene expression across different populations.
Sherif Gerges is a PhD student at Harvard Medical School in the Biological and Biomedical Sciences with a focus in Data Science at the Institute for Applied Computational Science. He is jointly co-mentored by Mark Daly and Steve McCarroll; and is using computational tools to functionally analyze genome-wide association studies at the single-cell level.
Rahul is an MD-PhD student in the Harvard-MIT Health Sciences and Technology program, and is currently doing his PhD in Genetics and Genomics at Harvard. He completed his undergraduate work in Chemical Engineering and Biology at the University of Pennsylvania in 2016. Co-mentored by Dr. Ben Neale and Dr. Vamsi Mootha, Rahul’s work is focused on using human genetics data to better understand perturbed pathways and disease mechanism, with a focus on mitochondrial function and dysfunction.
Daniel is a Graduate Student in the Neale lab. He is developing a method based on the Maximum Entropy Principle to construct multilayer SNP-phenotype networks given GWAS data. He is generally excited about how simple yet powerful variational principles, such as Maximum Entropy, can be developed, extended and applied to problems in biology and medicine. Daniel graduated from Yeshiva University in 2016 with a Bachelor's in Mathematics and Physics, and is on leave from medical school at Stony Brook University to focus on research and to pursue a PhD. For more information, check out his website.
Kristin is a PhD student in the Biological and Biomedical Sciences (BBS) program at Harvard Medical School, co-advised by Alicia Martin and Mark Daly. She completed her undergraduate degree in Integrative Biology at Harvard. She is broadly interested in developing approaches to study disease risk prediction in diverse populations, and in particular, leveraging biobank data to model genetic and non-genetic contributors to human disease.
Masahiro Kanai is a research fellow in the Xavier Lab at MGH. Prior to that, he was a PhD student in the Bioinformatics and Integrative Genomics PhD Program, Harvard Medical School. Co-advised by Drs. Mark Daly and Hilary Finucane, his research focuses on trans-ethnic analysis of complex diseases and traits to better understand their genetic architecture and diversity in multiple populations.
Sha is a visiting researcher in the lab of Hailiang Huang at the ATGU and Broad Institute of MIT and Harvard. She did her Ph.D. at the Institute of Mental Health of Peking University under the guidance of Pro. Xin Yu, in which she participated a large-scale screening of circulating miRNAs in Chinese schizophrenia. She also received scientific training in the state key lab for Molecular Biology in Chinese Academy of Medical Sciences. Now Sha is an associate professor and chief physician of psychiatry at 1st hospital of Shanxi Medical University. Her research focused on the multidimensional diagnostic and therapeutic biomarkers of early-onset schizophrenia, especially on genetics and epigenetics. As a psychiatrist, she wants to make more effort on translational psychiatry which can help more patients.
Roy is an Associate Computational Biologist in Hilary Finucane's lab. He works on single and multiple-causal-variant fine-mapping methods. Roy received his B.S. in Computer Science from Yale University in 2019.
Carlos is an Associate Computational Biologist working in Hilary Finucane's group. He is working on developing fine-mapping methods that account for all of the possible realizations of imputed SNPs, as opposed to just a point estimate.
Nathan is formerly an Associate Computational Biologist working in Hilary Finucane's lab. He is now a Graduate Student attending Harvard University.
He is interested in developing methods for extracting functional information about genes, such as coexpression and coregulation, from gene sequencing data. He is also interested in applying the insights that can be learned from these data to prioritize causal genes for polygenic diseases.
As part of a statistical genetics and experimental genomics research group, my work focuses on developing and applying novel methodologies to gain biological insights into genetic association signals. Specifically, I am involved in several projects to improve genetic fine-mapping for biobank-scale GWAS studies. Ultimately, we plan to test these results using massively parallel reporter assays and use these data to create accurate models of regulatory grammar as part of the ENCODE consortium. Additional projects include uniformly processing large single cell genomics datasets to create features and developing novel methodologies to prioritize GWAS target genes. I am a member of Hilary Finucane's lab.
Yan Xia is a Research Fellow in Hailiang Huang's lab. Yan’s research focuses on studying the genetic regulation for complex disorders, especially dissection of psychiatric disorders. She is interesting in epigenetic regulation, especially the DNA methylation quantitive trait loci in East Asian population.
Layla is an MD-PhD student in the Harvard-MIT Health Sciences and Technology program, and is currently doing her PhD in Biophysics at Harvard. She completed her undergraduate work in Organismic and Evolutionary Biology at Harvard in 2016. Co-mentored by Dr. Eric Lander and Dr. Hilary Finucane, Layla’s work centers on uncovering the underpinnings of regulatory network structure, focusing on transcription factor binding and enhancer architecture, to better understand the programs cells execute in health and disease.
Amanda Elliott, MD is an endocrinologist and Instructor at Harvard Medical School, MGH, and the Broad Institute whose research focuses on understanding genetic and environmental determinants of diabetes in large populations and in understudied high-risk groups. Her current research integrates large datasets with genomic data, electronic health records, and registry data to unravel how genes affect diabetes and obesity risk. Her mentor is Mark Daly and she works closely with Ben Neale and Jordan Smoller.
Dr Elliott completed a BS with high distinction receiving high honors in both mathematics and in cellular & molecular biology at the University of Michigan, Ann Arbor. She completed an MD with research distinction at the University of Michigan. Her internship and residency in Internal Medicine were at Duke University Medical Center, and endocrinology fellowship was at the Joslin Diabetes Center / Beth Israel Deaconess Medical Center. She also completed a T32 program in genetics at Brigham and Women's Hospital. She then joined the faculty at the Analytic and Translational Genetics Unit at MGH and Harvard Medical School. In 2019, Dr Elliott was selected as the Sarnoff Cardiovascular Research Scholar Award.
Yujie is a visiting graduate student in the Huang Lab. Yujie is an M.S. student in the Department of Computational Biology & Quantitative Genetics, Biostats at Harvard University. Yujie’s focus is on statistical genetics, gene sequencing data analysis, and tool development.
Zhongqi serves as a senior project coordinator for Dr.Hailiang Huang, and his lab in two institutions, MGH and the Broad Institute of MIT and Harvard. Zhongqi graduated from Friedman School of Nutrition Science and Policy at Tufts University and holds RD credential in the US and Canada.
Qidi Feng is a postdoctoral fellow in the Massachusetts General Hospital and the Broad Institute, advised by both Dr. Hailiang Huang and Dr. Tian Ge. She finished my Ph.D. study in Chinese Academy of Sciences. Qidi's research interests focus on copy number variation (cnv) architecture of schizophrenia in East Asian populations. They especially want to compare the contribution of cnv to schizophrenia across East Asians and Europeans.
Elizabeth is an Instructor in the ATGU and Affiliated Researcher at the Broad Institute, she was co-advised by Drs. Mark Daly and Ben Neale and working closely with Dr. Karestan Koenen. She did her PhD at Washington University in St. Louis followed by receiving an NIH Institutional Research and Career Development Award at Stony Brook University, in which she received structured pedagogy training, taught university classes, and examined genetic diversity of brain genes across diverse human populations. In the ATGU, Elizabeth is working on developing resources for improved study of the genetic basis of neuropsychiatric diseases in underrepresented admixed populations. In this capacity, she is part of the PGC-PTSD and NeuroGAP consortia, where she brings her population genetics background to complex psychiatric disease space.
Caitlin Carey is a Postdoctoral Associate at the Broad Institute of Harvard and MIT, where she is advised by Dr. Elise Robinson. Prior to joining the Broad, she earned her PhD in Psychological and Brain Sciences from Washington University in St. Louis under the direction of Dr. Ryan Bogdan, where her dissertation focused on links between polygenic risk, neural function, and behavior in externalizing psychopathology. She is interested in cross-disorder comorbidity and within-disorder heterogeneity in neuropsychiatric disorders and is currently working to characterize the contributions of rare and common genetic variation to specific phenotypes in autism spectrum disorders.
Sali Farhan completed her PhD in Biochemistry and Genetics at Robarts Research Institute at Western University in Canada. Her PhD research focused on identifying the genetic basis of Mendelian diseases and complex neurodegenerative diseases primarily amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Sali has been a Postdoctoral Fellow at ATGU since 2016 analyzing next generation sequencing data from a large cohort of sporadic and familial ALS cases to discover novel disease loci. During this time, she also completed her CCMG Clinical Molecular Genetics training at the University of Ottawa.
Anne is a recent graduate from the program of statistical genetics and genetic epidemiology at Harvard School of Public Health and now a postdoctoral fellow working with Dr. Ben Neale at ATGU and Dr. Jordan Smoller from PNGU. Her doctoral research focused on developing and applying statistical methods to a range of human -omics data, including GWAS, epigenomics, and metabolomics data. She’s interested in exploring the genetic underpinnings of and across neuropsychiatric traits and will be working on a project to identify genetic variation affecting the risk of common epilepsies using sequencing data.
My name is Mekdes, but I go by Duni. I am originally from Ethiopia. I am currently working in the MacArthur lab more specifically in Rare Genomes Project as a Senior coordinator. I graduated from Gordon College with a B.S. in Biology in 2014.
Research Associate with Elise Robinson. She is working on cognitive phenotypic associations with psychiatric and neurodevelopmental disorders. She received her B.A. in History of Science from Harvard College in 2016.
MacArthur’s lab seeks to accurately identify DNA variants affecting gene function and human disease risk from large-scale datasets containing genetic information from more than 90,000 human genomes. He also studies transcriptome sequencing (RNA-seq) approaches to better understand the impact of variants on human gene function. His lab leads an international consortium, the Exome Aggregation Consortium (ExAC), that has compiled the largest collection of sequences of the protein-coding region (exome) of the human genome.
Finally, his research brings these approaches together to discover disease-causing mutations in patients with rare severe diseases, with a particular focus on neuromuscular diseases such as muscular dystrophy. He has already used these techniques to diagnose several patients, and is working with collaborators to design genetic tests and treatments for the patients and their families.
MacArthur completed his Ph.D. at the Institute for Neuromuscular Research in Sydney, Australia, where he studied a loss-of-function variant in the human ACTN3 gene associated with variation in muscle strength and athletic performance. He later served as a postdoctoral fellow at the Wellcome Trust Sanger Institute in Hinxton, UK, where he led the annotation of gene-disrupting (“loss-of-function”) variants as part of the 1000 Genomes Project Consortium.
Andrew is an associate computational biologist at the Broad Institute and is interested in the growing computational pipelines used to run quality control and imputation on genotyping data.
Andrew graduated from Bowdoin College in 2019 with a BA in Neuroscience.
Camelia is a computational scientist in the Neale lab at the Broad Institute of MIT and Harvard. Her work focuses on discovering new approaches to the diagnosis and pharmacological treatment of psychiatric disorders via large scale whole-genome sequencing analyses. She also works on advancing our understanding of the contribution of genetic environments in the risk for psychiatric outcomes.
She earned her PhD in Statistical Genetics from Vrije Universiteit Amsterdam where she focused on methods for genetic studies of families and on causal statistical modeling related to genomic research. She is the recipient of an R01 grant (subrecipient PI) to work on causal modeling using genetic information. Learn more about Camelia here.
Qingbo is a Ph.D. student in the Bioinformatics and Integrative Genomics Ph.D. Program at Harvard Medical School. Qingbo is advised by Hilary Finucane. He works on the development of machine-learning methods for identifying non-coding regulatory variants at single base-pair resolution using high dimensional functional genomics features, with a strong focus on rare and common disease applications.
Katherine Tashman, Associate Computational Biologist I
Kate Tashman is an Associate Computational Biologist with the Neale Lab. She is interested in studying the genetic effects on psychiatric illness as well as neurodevelopmental disorders. She received her B.S. in Mathematical Sciences from Binghamton University in 2017.
Grace Tiao, Associate Director for Computational Genomics in the Translational Genomics Group
Grace Tiao is the Associate Director for Computational Genomics in the Translational Genomics Group and leads a team of computational biologists developing efficient methods and pipelines to produce and analyze large-scale sequencing callsets, including the Genome Aggregation Database (gnomAD), the UK BioBank, and rare disease cohorts generated by the Broad’s Center for Mendelian Genomics. She is the product owner for gnomAD and directs the production of gnomAD releases. Grace studied statistics and mathematics at the University of Oxford and worked for several years in the Cancer Genome Analysis group at the Broad.
Patrick is an Instructor at ATGU and the Broad Institute of Harvard and MIT. He is advised by Dr. Benjamin Neale, researching statistical methods applied to topics in the intersection of economics and genetics. He is also a core researcher of the Social Science Genetic Association Consortium and an affiliated postdoc with the Behavioral and Health Genomics Center at the University of Southern California. Currently, his work focuses on analyzing genetic data to explore the relationship between traits and boost power for association.
Sidi is a graduate student in Daly lab. She was born and grew up in Beijing, and did her undergrad at University of Chicago. Her academic interests include population genetics, non-coding regions and psychiatric diseases. She also enjoy Japanese culture, video games, yoga, pets and food.
Alice Zheng is a Project Coordinator in the Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard. She supports Hailiang Huang with the Asian Initiatives and works in conjunction with cross-functional groups in America and Asia to support the project management team and their ongoing research of psychiatric diseases. Her role involves collaborative research projects with several of Broad’s international partnerships as they continue to work towards cutting-edge research in the area of severe mental illnesses.