Faculty of Medicine - Faculty of Medicine, Memorial University of Newfoundland

1999	PGY 3, 4, 5: Medical Genetics Program, University of Toronto
1996	PGY 2: Pediatrics Program, Memorial University
1995	PGY 1: Internal Medicine Program, University of Toronto
1994	MD - Memorial University of Newfoundland
1990	BSc. - McGill University

Professional Experience:

2004	Founder’s Award from the Newfoundland and Labrador Lung Association(recognizing contribution to respiratory research in the province
1999	FRCPC, Royal College of Physicians and Surgeons of Canada
1999	Subspecialty in Medical Genetics
1999	FCCMG, Canadian College of Medical Genetics
1994	LMCC, Medical Council of Canada

Recent Publications:

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Published abstracts:

Fernandez BA, Siegel-Bartelt J, Herbrick J-A, Teshima I, Scherer SW: Holoprosencephaly and Cleidocranial Dysplasia in a patient due to position effect mutations: Case report and review of the literature. The David W. Smith meeting, August, 2005.

Fernandez BA, Noble B, Fox G, Bhatia R, Sala E, Beers MF, Woods MO. Familial Pulmonary fibrosis in Newfoundland: evidence for a novel genetic cause. The European Society of Human Genetics Meeting, April, 2005.

Fernandez BA, MacMillan A, Noble B, Crowley M, Jewer D, Scherer SW, Woods MO. Goeminne syndrome – Report of a second family supporting an X-linked inheritance pattern. American Society of Human Genetics meeting, October 2004.

Research:

Dr. Fernanadez’s research interests include inherited forms of pulmonary fibrosis and aneurysms, as well as autistic spectrum disorders. She has also studied the burden and epidemiologic distribution of genetic diseases in Newfoundland. Finally, like many other clinical geneticists, she is interested in characterizing new genetic syndromes and in better understanding the natural history of known syndromes.Pulmonary fibrosis is an adult onset form of interstitial lung disease, for which the only curative treatment is lung transplantation. In most populations, this condition is mainly sporadic. However working with a local team of respirologists, radiologists, pathologists and laboratory scientists, Dr. Fernandez has identified 10 Newfoundland families with a strongly genetic form of the disease. In these families, disease susceptibility is conferred by an autosomal dominant, incompletely penetrant gene. Her group is working to identify this gene, in the hopes that understanding its role in lung physiology will eventually lead to more effective therapy.She is also working on a review of 6,000 pediatric hospitalizations in Newfoundland. So far 3,000 separations have been reviewed and 10% of children requiring admission to the Janeway hospital had a strongly genetic diagnosis (i.e. a single gene or chromosomal disorder) and another 30% had a diagnosis like asthma, with a moderately genetic contribution.Dr. Fernandez is a collaborator in a multicenter study headed by Drs. Stephen Scherer (University of Toronto) and Peter Szatmari (McMaster University), looking at the genetics of autism. Autism is a complex trait under the control of multiple weak acting susceptibility genes, and the approaches used for identifying such genes are different than for Mendelian conditions. As part of the rigorous phenotyping necessary for the study, several clinical diagnostic tools (the ADOS and the ADI-R) have been introduced and validated, and these are now routinely used by the Janeway’s Child Development program.