2020 William K. Bowes, Jr. Award Winner

Anne O'Donnell-Luria, MD, PhD

Assistant Professor, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School Associate Member, Broad Institute of MIT and Harvard

Dr. O'Donnell-Luria is a physician scientist and clinical and biochemical geneticist interested in improving the recognition of functional genetic variation that contributes to rare disease. She completed her M.D./Ph.D. training at Columbia University Medical Center studying cancer epigenetics, followed by the Boston Children's Hospital and Harvard Medical School Combined Pediatrics-Genetics Residency Program and Fellowship in medical biochemical genetics. During her postdoctoral training, she studied the presence of Mendelian variants in the largest human reference population databases (ExAC, gnomAD), contributed to the development of methods to improve the interpretation of genetic variants, and described the novel KMT2E-related neurodevelopmental syndrome. Currently, she co-directs the Broad Institute Center for Mendelian Genomics and the Rare Genomes Project with Heidi Rehm, focusing on discovering novel disease genes and increasing diagnoses. She is an investigator on the gnomAD reference population database project and the NeuroDev study, evaluating the genetic architecture of neurodevelopmental disorders in Kenya and South Africa. She chairs the ClinGen Syndromic Disorders Gene Curation Expert Panel. Dr. O’Donnell-Luria sees patients with Mendelian disorders involving chromatin machinery in the EpiChroma and Kleefstra syndrome clinics at Boston Children’s Hospital. In addition to using genomic, transcriptomic, and epigenetic approaches to increase the rate of rare disease diagnosis, her research laboratory is evaluating the contribution of unannotated human genes to rare disease and exploring the mechanisms of incomplete penetrance. She is an author on over 40 publications and a recipient of a David W. Smith Peter Duncan Award and a HMS Hearst Fellowship.

Dr. Christian R. Marshall, PhD FACMG FCCMG

Clinical Laboratory Director, Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children 

Dr. Marshall is a Clinical Laboratory Director in the Division of Genome Diagnostics at the Hospital for Sick Children in Toronto, Canada and an Assistant Professor at the University of Toronto. Medical genetics has been the focus of his career, specifically in understanding how genetic variation is associated with disease phenotypes and then translating these associations into diagnostics. Following completion of his Ph.D in molecular biology at Simon Fraser University in Vancouver, Dr. Marshall undertook a post-doctoral fellowship in genetics and genome biology at The Hospital for Sick Children (SickKids) under the mentorship of Professor Stephen Scherer. This work led to important discoveries of copy number variation involved in risk for developing Autism and other neurodevelopmental disorders. Between 2014-2018, he completed advanced specialty training in clinical molecular genetics, and was certified as a Diplomat, American Board of Medical Genetics and Genomics (2017), and as a Fellow of the Canadian College of Medical Geneticists (2018) and the American College of Medical Genetics and Genomics (2018). Dr Marshall’s current research focuses on the application of new sequencing technologies for identification of human genome variation causing disease. As a principal investigator for the Centre for Genetic Medicine’s Genome Clinic, he is exploring the diagnostic utility of genome sequencing in pediatric medicine and the translation of the technology into clinical diagnostics. Dr. Marshall’s other interest is developing standards for clinical genome sequencing. He was the inaugural Chair of the Medical Genome Initiative – a North American consortium aiming to expand access to, and create standards for, high-quality clinical genome sequencing to diagnose rare genetic diseases. As clinical laboratory director he leads the genome sequencing program and is focused on broadening the use of genome information to improve the health of all patients at SickKids.