HNRNPK-Related Neurodevelopmental Disorder (Au-Kline Syndrome)

Billie (Ping-Yee) Au, MD, PhD

Clinical Assistant Professor

University of Calgary, Calgary, Canada

Dr. Billie Au's research has focused on identifying the underlying genetic etiology for novel syndromes, and the characterization of these syndromes. She is particularly interested in dysmorphic syndromes that involve intellectual disability, autism, epilepsy and other abnormal neurological phenotypes. She is interested in “reverse phenotyping,” i.e. how understanding disease-related genes within the context of their signaling and regulatory networks can inform our knowledge of clinical phenotype and subsequent management and therapy. She is also interested in how knowledge of genetic etiology can be used to improve management of patients in new ways, such as through identification of potential therapeutic targets in dysregulated cellular pathways. Her research applies new genomic technologies such as whole exome sequencing, but will hopefully also involve whole genome and transcriptome approaches in the future.

Rosanna Weksberg

Clinical Geneticist, Division of Clinical and Metabolic Genetics

University of Toronto, Toronto, Canada

Dr. Rosanna Weksberg is a Professor of Paediatrics and Medical Genetics at The Hospital for Sick Children (SickKids) and University of Toronto. Dr. Weksberg’s current research focuses on the epigenetic basis of normal human development and the identification of epigenetic alterations associated with human disease, especially for growth and neurodevelopmental disorders. Dr. Weksberg is an Associate Editor for the American Journal of Medical Genetics and Frontiers in Genetics.

Micheil Innes, MD

Professor, Department of Medical Genetics

Cumming School of Medicine, University of Calgary, Calgary, Canada

Antonie Kline, MD

Director of Clinical Genetics, The Randolph B. Capone Cleft Lip and Palate Program

Cumming School of Medicine, University of Calgary, Calgary, Canada

Dr. Kline received her medical degree from Jefferson Medical College, Philadelphia, PA, her postdoctoral training in medical genetics at Jefferson Medical College, Philadelphia, PA, and her clinical cytogenetics training at the Kennedy Krieger Institute of the Johns Hopkins University School of Medicine, Baltimore, MD. She is board-certified in clinical genetics, clinical cytogenetics, and clinical molecular genetics. She is also a Fellow of the American Academy of Pediatrics and a Founding Fellow of the American College of Medical Genetics. Dr. Kline is the medical director of the Cornelia de Lange Syndrome Foundation and a member of the professional advisory board of the 5p- Society. Her areas of expertise include evaluation of multiple birth defects and/or developmental issues, as well as correlation and interpretation of cytogenetic changes in a clinical setting.