Bridget Ann Fernandez

Research Interests: Autism Spectrum Disorders, inherited forms of interstitial lung disease, clinical dysmorphology and syndromology, knowledge translation

Education:

1990: B.Sc. (Human Physiology), McGill University

1994: M.D., Memorial University

1999: FRCPC (Medical Genetics), Hospital for Sick Children, University of Toronto

2009: M.Sc. (Clinical Epidemiology), Memorial University

Professional Experience:

2013-present: Professor Disciplines of Genetics and Medicine, Faculty of Medicine, Memorial University

2005-2013: Associate Professor, Disciplines of Genetics and Medicine, Faculty of Medicine, Memorial University

1999-2005: Assistant Professor, Disciplines of Genetics and Medicine, Faculty of Medicine, Memorial University (tenured 2003)

2000-present: Medical Director, Provincial Medical Genetics Program, Eastern Health, St. John’s, NL

1999-present: Clinical Geneticist, Provincial Medical Genetics Program, Eastern Health, St. John’s, NL

Research and other expertise: Dr. Fernandez has performed deep phenotyping of over 700 Newfoundland families containing one or more individuals with an Autism Spectrum Disorder (ASD). The ASDs have high clinical and genetic heterogeneity and she has a particular interest in the use of morphologic data, collected by physical examination, for the stratification of research cohorts into more genetically informative subtypes. Her work has helped to inform clinical practice around the use of genome-wide tests for ASD patients.

She also leads a research team that has performed population-based recruitment of Newfoundland patients with pulmonary fibrosis (PF). This work determined that familial cases are overrepresented in NL’s founder population. Sporadic and familial PF patient collections are being studied at the molecular level to better understand the perturbed pathophysiology that that leads to development of this form of interstitial lung disease, which is curable only by lung transplantation.

Dr. Fernandez is a past president of the Canadian College of Medical Geneticists (2010-2012) and a past chair of the Royal College of Physicians and Surgeons’ Examination Board in Medical Genetics (2006-2010).

Current Financial Support:

Genome Canada

Canadian Institutes of Health Research

Janeway Children’s Hospital Foundation