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
Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly evolving. However, there has not been comparable progress to date in scalable, harmonized phenotyping methods. As a result, beyond associations with categorical diagnoses, the effects on dimensional traits remain unclear for many RGDs. The nature and specificity of RGD effects on cognitive and behavioral traits is an area...
Journal article
CONCLUSION: We share our lessons learnt from the programme. Flexible implementation of multiple strategies allowed for scalability and response to the availability of new technologies. Broad implementation of family ES with research-based analysis showed promising yields post a negative clinical singleton ES. RNA-seq offered multiple benefits in family ES-negative populations. International data sharing strategies were critical in facilitating collaborations to establish novel disease-gene...