Anne O'Donnell Luria, M.D., Ph.D.
Instructor in Pediatrics
Boston Children's Hospital
Divsion of Genetics, Hunnewell 5, Mail code 3056
300 Longwood Ave
Boston MA 02115
|Columbia University College of Physicians and Surgeons, New York, NY||MD, PhD|
|Boston Children's Hospital / Harvard Medical School Combined Peds-Genetics Residency, Boston, MA|
|Boston Children's Hospital Medical Biochemical Genetics Fellowship, Boston, MA|
Associate Director of the Broad Center for Mendelian Genomics (CMG)
The Broad CMG applies large-scale genomic methods - exome, whole-genome and transcriptome sequencing - to thousands of undiagnosed rare disease families to drive novel disease gene discovery.
My research focuses on understanding the mechanisms of incomplete penetrance, using large scale reference population databases in improve clinical variant interpretation, and using large scale genomics to improve rare disease gene discovery. I am a member of the ClinGen Sequence Variant Interpretation (SVI) working group.
I lead the EpiChroma Clinic: a Genetics Clinic for Epigenetic and Chromatin Disorders at Boston Children's Hospital. Here I work with families impacted by genetic disorders involving the chromatin machinery which involves how our genetic code is packaged and expressed. I also see children with intellectual disability, developmental delay or inborn errors of metabolism, along with other rare genetic disorders.
Also publishes as Anne H. O'Donnell-Luria
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