Co-Director of the Mendelian Genomics Research Center
Broad Institute of MIT and Harvard
Assistant Professor of Pediatrics, Harvard Medical School
Dr. O'Donnell-Luria is co-director of the Mendelian Genomics Research Center at the Broad Institute of MIT and Harvard, where she is an associate member as well as the associate director of the Program in Medical and Population Genetics. She is also an Assistant Professor of pediatrics at Harvard Medical School, a faculty member in the Division of Genetics and Genomics at Boston Children's Hospital, and affiliated faculty in the Analytic and Translational Genetics Unit at Massachusetts General Hospital. Her research group at Boston Children’s Hospital and the Broad focuses on using large-scale genomic and transcriptomic approaches to increasing the rate of rare disease diagnosis through improving rare variant interpretation and empowering the discovery of novel disease genes. She is particularly interested in how we can leverage gnomAD, a massive reference population database, in these efforts including in estimating rare disease prevalence. She also studies incomplete penetrance of genetic conditions, or why only some people with a disease-causing genetic variant will develop symptoms.
Dr. O'Donnell-Luria received her B.S. in
biological chemistry with a minor in mathematics from Tulane University before
her M.D./Ph.D. training at Columbia University Medical Center. She completed
the Boston Children's Hospital and Harvard Medical School (HMS) Combined
Pediatrics-Genetics Residency Program and a Medical Biochemical Genetics Fellowship,
also at HMS and Boston Children's Hospital. She received postdoctoral training
in the MacArthur laboratory at the Broad Institute and MGH.
Co-Director of the Mendelian Genomics Research Center
Broad Institute of MIT and Harvard
Assistant Professor of Pediatrics, Harvard Medical School
Dr. O'Donnell-Luria is co-director of the Mendelian Genomics Research Center at the Broad Institute of MIT and Harvard, where she is an associate member as well as the associate director of the Program in Medical and Population Genetics. She is also an Assistant Professor of pediatrics at Harvard Medical School, a faculty member in the Division of Genetics and Genomics at Boston Children's Hospital, and affiliated faculty in the Analytic and Translational Genetics Unit at Massachusetts General Hospital. Her research group at Boston Children’s Hospital and the Broad focuses on using large-scale genomic and transcriptomic approaches to increasing the rate of rare disease diagnosis through improving rare variant interpretation and empowering the discovery of novel disease genes. She is particularly interested in how we can leverage gnomAD, a massive reference population database, in these efforts including in estimating rare disease prevalence. She also studies incomplete penetrance of genetic conditions, or why only some people with a disease-causing genetic variant will develop symptoms.
Dr. O'Donnell-Luria received her B.S. in
biological chemistry with a minor in mathematics from Tulane University before
her M.D./Ph.D. training at Columbia University Medical Center. She completed
the Boston Children's Hospital and Harvard Medical School (HMS) Combined
Pediatrics-Genetics Residency Program and a Medical Biochemical Genetics Fellowship,
also at HMS and Boston Children's Hospital. She received postdoctoral training
in the MacArthur laboratory at the Broad Institute and MGH.
Journal article
Genome organization is intricately tied to regulating genes and associated cell fate decisions. Here, we examine the positioning and functional significance of human genes, grouped by their lineage restriction level, within the 3D organization of the genome. We reveal that genes of different lineage restriction levels have distinct positioning relationships with both domains and loop anchors, and remarkably consistent relationships with boundaries across cell types. While the functional...
Journal article
Recessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis requires determining that these variants occur on different copies of the chromosome (that is, are in trans) rather than on the same copy (that is, in cis). However, current approaches for determining phase, beyond parental testing, are limited in clinical settings. Here we developed a strategy for inferring phase for...