Anne O'Donnell-Luria is an Assistant Professor in Pediatrics at Harvard Medical School who leads a research group across Boston Children’s Hospital and the Broad Institute of MIT and Harvard. Her group’s research focuses on using large-scale genomic and transcriptomic approaches to increase the rate of rare disease diagnosis through improving rare variant interpretation, empowering the discovery of novel disease genes, and understanding the mechanisms of incomplete penetrance.
She is a co-investigator on the Genome Aggregation Database (gnomAD) project, the largest reference population database that has powered the development of a number of metrics in rare disease including constraint (pLI, LOEUF), selection coefficients, and proportion expressed transcript (pext) scores.
With Heidi Rehm, she co-leads the Broad Center for Mendelian Genomics and the Rare Genomes Project focused on discovering novel disease genes and is part of the Translational Genomics Group at the Broad Institute. She is also a practicing clinician who runs the EpiChroma clinic at Boston Children’s Hospital focused on evaluating families with Mendelian chromatin disorders.
Malak is an Associate Professor in Pediatrics at King Saud University (KSU) and pediatric medical geneticist at King Saud University Medical City. She received her M.D. from KSU, Saudi Arabia and her General Pediatric Board from the Saudi Commission for Health Specialties, and her Medical Genetics Board from Canadian College of Medical Geneticists.
Her clinical work in the University Hospital covers variable genetic conditions, mainly neurogenetic disorders and IEM. Her research interest focuses on novel variant identification and interpretation, rare disease characterization, and novel gene discovery.
She has co-investigated on some projects, including a mitochondrial project, neurotransmitter projects, and brain energy failure.
She is currently enrolled in MMSCI Master's Program and joined Dr. Anne O'Donnell-Luria’s research group working on the study of the 5’ UTRs to find disease-causing variants.
Postdoctoral Research Fellow
Mutaz obtained his MBBS and Master's degrees in Molecular Medicine from the University of Khartoum (Sudan). He finished his Ph.D. 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.
Postdoctoral Research Fellow
Vijay is an instructor and a neurologist at Brigham and Women’s Hospital, Harvard Medical School. His scientific interests are to understand the genetic architecture and improve the molecular diagnosis of Mendelian muscle diseases (such as muscular dystrophies and congenital myopathies).
He completed a combined M.D.-Ph.D. at Harvard Medical School in 2014, with Ph.D. work focused on discovery and characterization of genes implicated in rare human brain malformation syndromes. He followed this with clinical training in neurology and subspecialty training in neuromuscular medicine at Massachusetts General Hospital and Brigham and Women’s Hospital, completed in 2019.
Cynthia 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.
MIT UROP Intern
Josephine is a computer science undergraduate student at MIT working on the genetic prevalence dashboard within the O’Donnell-Luria lab.
Gabrielle completed her medical and residency training in medical genetics at Université de Montréal, and did a clinical research fellowship with the Care4Rare Canada consortium at the University of Ottawa. She is now 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 analyses focus on the identification of structural variants in cohorts of individuals with undiagnosed rare genetic diseases.
Computational Associate II
Jialan received her Master's degree from Carnegie Mellon University in computational biology and 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.
Associate Computational Biologist
Daniel is an Asociate Computational Scientist working jointly between the gnomAD Methods Development Team and the O’Donnell-Luria Lab. Prior to joining the Broad, Daniel had graduated in 2022 from the Illinois Institute of Technology with a B.S./M.S. in Biomedical Engineering and Biomedical Data Science. His current research projects include investigating unannotated genes - genes with proteins which are translated in tissue yet are not included in large protein databases - and the relationship between gene length, age, and constraint.
Postdoctoral Research Fellow
Mugdha 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.
Postdoctoral Research Fellow
Kayla is a Postdoctoral Resserach Fellow directly reporting to Anne O'Donnell-Luria and Heidi Rehm. 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.
Postdoctoral Research Fellow
Sarah is a postdoctoral research fellow aiming to increase the diagnostic capacity of genomic approaches for pediatric rare diseases to improve the care of patients.
Following her medical training in the UK, she completed her Ph.D. at the Technical University of Munich and the Helmholtz Zentrum München where she focused on the integration of genomic, transcriptomic, and proteomic approaches to identify and validate novel disease-causing variants and to discover novel disease genes. She primarily focussed on the diagnosis of pediatric suspected mitochondrial disease patients and the interpretation of more challenging variants, such as those with incomplete penetrance.
The O'Donnell Luria Lab at the Division of Genetic and Genomic the Boston Children's Hospital work in close collaboration with the Translational Genomics Group (TGG). The TGG Rare Disease Group is co-directed by Anne O'Donnell Luria together with Heidi Rehm and Mark Daly, at Broad Institute of MIT and Harvard. The lab is also affiliated with the Analytic and Translational Genomics Unit (ATGU) at Massachusetts General Hospital.
Siwaar Abouhala is a 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.
Chrissy Austin-Tse is a board-certified molecular geneticist working in Heidi Rehm’s group within the Center for Genomic Medicine at MGH, where she supports both clinical and research programs.
She also serves as a part-time clinical molecular geneticist at the Partners Laboratory for Molecular Medicine. Chrissy specializes in sequence variant interpretation and the analysis of diagnostic whole exome and whole genome sequencing data.
Samantha Baxter 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 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.
Ben 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.
Stephanie 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.
Carmen 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.
Stacey is a Senior Project Coordinator where she manages various operational aspects for the Rare Genomes Project and the Broad Center for Mendelian Genomics.
Katie is a Senior Project Manager that overseas the Rare Disease Group Coordination team.
Brian is a Clinical Project Coordinator for the Rare Genomes Project, focusing on obtaining consent from patients and their families to participate in the study and contributing to the overall development of the project. He studied neurobiology as an undergraduate and has experience in patient advocacy and community outreach.
Eva 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.
Emily is a Genomic Variant Analyst working to identify causal candidate genes/variants in rare disease exomes and genomes. Before Broad, she worked in clinical cytogenetics and genomics laboratories as part of her undergraduate training in diagnostic genetic sciences.
Melanie 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.
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.
Lynn is a Clinical Genomic Analyst who uses large-scale population databases and genomic tools to discover new genes underlying Mendelian diseases.
She works closely with clinical collaborators from around the world to interpret rare genomes and identify causal variants in undiagnosed patients.
Alicia is a Project Coordinator where she manages various operational aspects for the Rare Genomes Project and the Broad 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.
Katie 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.
Lalai is a Clinical Project Coordinator for the Rare Genomes Project. She consents patients and their families to the study and facilitates sample and medical record collection. She studied Biology and Arabic as an undergraduate and has previous experience with psychiatry and oncology patients. She aims to increase Middle-Eastern and Asian participation in the study.
Moriel is a Clinical Genomic Variant Curator who applies the ACMG guidelines to curate variants for various projects in TGG and assign them a classification of either pathogenic or benign.
Prior to joining the Broad Institute, she received her Master's degree in Animal Biology with a focus in equine genetics at the University of California - Davis.
Hana is a 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.
Grace is a Genetic Counselor with a background in pediatric rare disease, gene discovery, and genomic sequencing. As the Clinical Project Manager for the Rare Genomes Project, she works directly with families enrolled in the study and is interested in the impacts of receiving a genetic diagnosis.
Ben 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, in additional developing tools to aid in rare disease analysis such as SpliceAI lookup, CMA search, and Liftover.
Monica is an attending neonatologist and geneticist at Boston Children's Hospital, Assistant Professor at Harvard Medical School, and an associated scientist at the TGG. Her research focuses on applying genomic medicine to neonatology, particularly outcomes associated with neonatal genetic diagnosis and understanding genetic contributions to infant mortality.
Sanna is a researcher at SciLifeLab/Royal institute of technology (KTH), Sweden & Affiliated researcher at Broad Institute of MIT and Harvard working in close collaboration with the O'Donnell-Luria team. She is focused on improving disease diagnosis and treatment by enhancing our understanding of variant-disease relationship and fundamental biological mechanisms. She has a special interest for factors that protect some carriers from severe disease, a phenomenon known as incomplete penetrance.
Sanna did her postdoc in the group 2019-2022 working on improving variant interpretation and predicted function using the gnomAD dataset.
Victor Luria is an Associate Research Scientist working with Nenad Sestan in the Department of Neuroscience, Yale University, and a Visiting Scientist with Marc Kirschner in the Department of Systems Biology, Harvard Medical School. Victor studies how evolutionarily novel genes appear de novo, are taxon-restricted, encode small novel proteins, and function in the brain. He is an affiliate member of the O'Donnell Lab, where he focuses on the expression and sequence features of novel human proteins that are unannotated and discovered by proteogenomics. Before joining Yale and Harvard, he completed his Ph.D. at Columbia University in New York City where he trained in genetics, biophysics and neuroscience.
Ellie is a graduate student and clinical research fellow at the University of Southampton and Imperial College London, co-advised by Drs. Rehm and O’Donnell-Luria. She is a clinician utilising genome and exome data for rare disease diagnostics and novel gene discovery. Her work focuses on utilising large disease cohorts across the globe and constraint metrics to identify novel disease genes. Her research benefits from strong links with functional wet labs at the University of Portsmouth, UK.
2021-2023: Emily was a postdoctoral research fellow that graduated magna cum laude with Highest Honors in Human Evolutionary Biology from Harvard University. She received her M.D./Ph.D. from Columbia University College of Physicians and Surgeons; for her doctoral dissertation, she investigated the diagnostic utility of exome sequencing for kidney disease. In addition, she is an active member and Biocurator for multiple ClinGen Clinical Domain Working Group, including the Aminoacidopathy, Cerebral Creatine Deficiency Syndromes, and Urea Cycle Disorder Expert Panels. She hopes to pursue a career as a physician-scientist in pediatrics and medical genetics, helping advance the care of individuals with rare genetic diseases and their families through conducting bench-to-bedside research.
2020-2022: William was working in the group as an associate computational scientist on processing and delivery of rare disease datasets with the Broad Center for Mendelian Genomics, improving the gnomAD resource, and understanding the role of unannotated genes in human disease.
2020-2021: Jasmine was a clinical research assistant who worked as a medical scribe, developed and maintained Dr. O’Donnell-Luria’s RedCap database, and assisted with data cleaning initiatives.