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.
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.
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.
Clinical Research Fellow
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.
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.
Postdoctoral Research Fellow
Emily is a postdoctoral research fellow, born and raised in Brookline, MA, and graduated magna cum laude with Highest Honors in Human Evolutionary Biology from Harvard University. She received her MD/PhD 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. Outside of the lab, she enjoys hiking, reading, yoga, cooking and baking.
Associate Computational Biologist
Daniel is an associate computational scientist working jointly between 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 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.
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 MD 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 Program and joined Dr. Anne O'Donnell-Luria’s research group working on the study of the 5’ UTRs to find disease-causing variants
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.
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.
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.
Stephanie is a genomic variant analyst working to identify causal candidate genes and variants in rare disease exomes and genomes. Prior to joining the Broad, she studied epigenetics in fetal development at UCSF and worked in genomic research at the HudsonAlpha Institute for Biotechnology.
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.
Emily is a genomic variant analyst working to identify causal candidate genes/variants in rare disease exomes and genomes.
Prior to joining the Broad, she worked in clinical cytogenetics and genomics laboratories as part of her undergraduate training in diagnostic genetic sciences.
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.
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.
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 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.
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.
Shifa is a software engineer working on developing bioinformatics software for interpreting DNA sequencing data in the context of severe rare diseases. He has many years of IT industry experience. He found his real passion in Genomics and Bioinformatics 5 years ago and has actively engaged in computational biology since then.
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.
2021-2022: Oana joined the group as a visiting scholar to learn firsthand new tools that can be used in improving the interpretation of human genomic variation, integrating a vast array of expertise for an enhanced understanding of a continuously evolving field.
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.
2019-2021: Stacy was working with the group as a Senior Project Manager at the Broad Genomics Platform and manages various operational aspects for the Broad CMG and the Rare Genomes Project.
2017-2020: Eleina was a genomic variant analyst working to identify causal candidate genes/variants in rare disease exomes and genomes. Before working at the Center for Mendelian Genomics at Broad Institute, Eleina worked as a variant scientist at Claritas Genomics and SolveBio, Inc.