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Anne O'Donnell Luria, M.D., Ph.D.

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Columbia University College of Physicians and Surgeons, New York, NYMD, PhD2011Epigenetics
Boston Children's Hospital / Harvard Medical School, Boston, MA2017Combined Peds-Genetics Residency
Boston Children's Hospital, Boston, MA2016Medical Biochemical Genetics Fellowship
William K Bowes Award

Anne O'Donnell-Luria is an Assistant Professor in Pediatrics at Harvard Medical School who leads a research group at the Broad Institute and Boston Children’s Hospital with close ties to Massachusetts General Hospital. Her group 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. With Heidi Rehm and Michael Talkowski, she co-leads the Broad Center for Mendelian Genomics and the Rare Genomes Project focused on discovering novel disease genes. She has leadership roles in a number of projects including Genome Aggregation Database (gnomAD), NeuroDev project, and AnVIL. She is also a practicing clinician who runs the EpiChroma clinic at Boston Children’s Hospital (BCH) focused on evaluating families with Mendelian chromatin disorders such as Kleefstra syndromes (EHMT1 and KMT2C) and ODLURO syndrome (KMT2E).

Prior to joining the Broad Institute in 2015, O'Donnell-Luria completed her M.D./Ph.D. training at Columbia University Medical Center followed by the Five-Year Boston Children's Hospital and Harvard Medical School Combined Pediatrics-Genetics Residency Program and an additional year of clinical training in medical biochemical genetics. She completed her postdoctoral training in the MacArthur laboratory at the Broad Institute.

Available: 02/18/22, Expires: 03/01/24

Despite our increased knowledge of genetic mechanisms and significant improvements in sequencing technology, at least half of patients with a rare genetic disease remain without a diagnosis, and many rare diseases remain without a known cause. Some patients remain undiagnosed because the genetic cause is not located in the sequence or spelling of the gene, but rather due to an alteration in the structure or arrangement of the genome. These structural variants (SVs) can manifest as deletions, duplications, insertions, inversions, or translocations. The objective of the project is to determine the yield of SV analysis on diagnostics and novel gene discovery. SV analysis is performed on exome sequencing data from a large cohort of families affected by neurodevelopmental or neuromuscular disorders who remain undiagnosed after prior clinical and research testing. The families are sequenced at the Broad Institute Center for Mendelian Genomics (CMG) and SV calls are obtained for each family using the Broad Institute Genome Analysis Toolkit (GATK) gCNV algorithm. While analysis is ongoing, we have already diagnosed 163 previously unsolved families to date across the Broad Institute CMG cohorts. The student will filter and analyze each participant?s SV data using the Broad Institute analysis platform, seqr, and determine if the SV is predicted to be clinically significant. Prior knowledge on principles of medical genetics (human genome structure, type of different mutations, Mendelian inheritance, etc) as well as familiarity with online databases and resources (OMIM, ClinVar, UCSC genome browser, gnomAD, etc) is an asset. Through this experience, skills about interpreting genetic variation will be gained that can be applied in clinical practice as rare diseases are present across medical specialties.

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01HG012781 (O'DONNELL-LURIA) Sep 20, 2023 - Jun 30, 2027
    Improving Genetic Diagnosis for African Ancestry Populations
    Role Description: People of African ancestry are vastly underrepresented in both: (i) clinical genetics research and (ii) human genetics reference panels (e.g. gnomAD), which makes them less likely to receive accurate genetic diagnoses. This work will leverage data from multiple large-scale efforts to improve medical genetic and diagnostic pipelines for people of African ancestry. The NeuroDev Kenya study provides the largest phenotypic characterization of rare genetic disorders in East African individuals to date and will help to identify rare genetic diagnoses in hundreds of East African individuals.
    Role: PI
  2. 2022-316726 (O'DONNELL-LURIA / REHM) Dec 1, 2022 - Nov 30, 2024
    Silicon Valley Community Foundation, Chan Zuckerberg Initiative (CZI)
    Rare Genomes Project: Patient-Partnered Prevalence for Research
    Role Description: The purpose of this proposal is to further develop RGP's prevalence calculator and strengthen efforts to reach all patients and communities with access to this and other RGP tools, facilitating meaningful engagement in research.
    Role: PI
  3. NA (O'DONNELL-LURIA) Oct 1, 2022 - Sep 30, 2025
    Mather's Foundation
    Understanding the mechanisms of incomplete penetrance and improving genetic variant interpretation using >100,000 human genomes
    Role Description: Study individuals who are non-penetrant for monogenic dominant diseases to understand the mechanisms underlying incomplete penetrance, focused on cis-regulatory elements.
    Role: PI
  4. U24HD104591-01 (O'DONNELL-LURIA) Aug 17, 2022 - Jul 31, 2025
    Gene Curation Expert Panel for Syndromic Disorders
    Role Description: Syndromic disorders and structural birth defects account for a large portion of infants and children with rare disease. Given these are very rare conditions, evidence supporting the relationship of the disease with a gene is often lacking, which can make genetic testing for these conditions challenging and imperfect. We bring together a group of experts from over 20 institutions to evaluate which genes cause syndromic disorders in order to improve medical care.
    Role: PI
  5. 5R21HG012397 (WOJCIK/ODONNELL-LURIA) Jul 1, 2022 - Jun 30, 2024
    Understanding Disparities in Genomic Medicine
    Role: MPI

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.