Perkins Seminar: Anne O'Donnell-Luria, Ph.d.

Event Date and Time:
Tuesday 2nd April, 2019 @ 12:00pm - 1:00pm

Venue:
McCusker Auditorium, Harry Perkins Institute of Medical Research, Nedlands

Anne O'Donnell-Luria is associate director of the Center for Mendelian Genomics at the Broad Institute of MIT and Harvard. She is interested in using large-scale genomic 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 massive reference population databases such as ExAC and gnomAD in these efforts. She also studies why only some people with a disease-causing genetic variant will develop symptoms, which is known as incomplete penetrance of genetic conditions.

O’Donnell-Luria is also a practicing clinician who runs a clinic at Boston Children’s Hospital (BCH) focused on evaluating families with epigenomic disorders. Her training was supported by a Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship. Her research has been recognized by the David W. Smith Peter Duncan Award (2015), BCH Alumni Association Trainee Travel Award (2016), and BCH Medical Staff Organization Faculty Innovated Research Award (2017).

Prior to joining the Broad Institute in 2015, O'Donnell-Luria completed her M.D./Ph.D. training at Columbia University Medical Center, where her thesis work was on the role of DNA methylation in the pathophysiology of complex disease, particularly breast cancer and psychiatric disease. This was followed by the Five-Year Boston Children's Hospital and Harvard Medical School Combined Paediatrics-Genetics Residency Program and an additional year of clinical training in medical biochemical genetics. She spent 18 months as a clinical fellow in the MacArthur laboratory at the Broad Institute before taking her current post.

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