Genetics

Approach to the Family History and Pedigree Video 2

This video is the second in a two-part series that presents an approach to family history and pedigree. In this video, viewers will review the classic patterns of Mendelian inheritance and see how these patterns might look in a pedigree. This podcast was developed by Erinna McMurtry and Jovana Miladinovic in collaboration with Dr. Patricia Blakley, an Associate Professor at the Department of Pediatrics at the University of Saskatchewan with specialization in clinical genetics and developmental pediatrics.


Genetic Diseases 3: Genetic testing technologies

This video presents an overview of genetic testing technologies. This is part 3 of a 3-part series on genetic disorders. This episode will describe four types of genetic testing technologies, describe the advantages and disadvantages of direct-to-consumer genetic testing, and discuss personalized medicine. This podcast was developed by Rozlyn Boutin a senior medical student at the University of British Columbia, in collaboration with Dr. Caitlin Chang, a medical geneticist at the British Columbia Children’s Hospital in Vancouver.


Genetic Diseases 2: X-linked inheritance

This video presents an overview of X-linked inheritance. This is part 2 of a 3 part series on genetic disorders. This episode will define X-linked inheritance and describe dosage compensation using a case of X-linked hypophosphatemia as an example. This video was developed by Rozlyn Boutin a senior medical student at the University of British Columbia, in collaboration with Dr. Caitlin Chang, a medical geneticist at the British Columbia Children’s Hospital in Vancouver


Genetic Diseases 1: Autosomal dominant inheritance

This video discusses long QT syndrome as an example to discuss medical conditions that are inherited in an autosomal dominant fashion. This is the first video in a 3-video series on Genetic Diseases. It was created by Dr. Rozlyn Boutin, a resident at British Columbia’s Children’s Hospital in Vancouver, BC, Canada in collaboration with Dr. Caitlin Chang, a medical geneticist at BC Children’s.


Maple Syrup Urine Disease

This podcast will provide listeners with an understanding of Maple Syrup Urine Disease, its clinical signs and symptoms, and management. This podcast was developed by fourth year medical student Angela Messer in collaboration with Dr. Shailly Jain, an Associate Professor in the Department of Medical Genetics at the University of Alberta.


Inborn Errors of Metabolism (Part 3)

This is the final podcast in a three-part series on inborn errors of metabolism.  Part 1 can be found here, and Part 2 here. This podcast reviews large molecule metabolic diseases including glycogen storage diseases, lysosomal and peroxisomal diseases and mucopolysaccharidoses. This episode was written by Dr. Dustin Jacobson, a 2nd year pediatrics resident from the University of Toronto and Dr.


Inborn Errors of Metabolism (Part 2)

This podcast is the second in a three-part series on inborn errors of metabolism.  Part 1 can be found here, and Part 3 can be found here. This podcast reviews a wide range of small molecule diseases including amino and organic acidemias, urea cycle disorders, fatty acid oxidation defects, carbohydrate metabolism defects, mitochondrial oxidative phosphorylation disorders, purine and pyrimidine metabolism disorders and pyruvate metabolism disorders.


Inborn Errors of Metabolism (Part 1)

This podcast is the first in a three-part series on inborn errors of metabolism.  Part 2 can be found here and the Part 3 can be found here. This podcast develops a general approach to inborn errors of metabolism, reviewing basic epidemiology, presentations, and inital investigations and management. This episode was written by Dr. Dustin Jacobson, a 2nd year pediatrics resident from the University of Toronto and Dr.


Fetal Alcohol Spectrum Disorder

This podcast is an approach to diagnosis and management of FASD, Fetal Alcohol Spectrum Disorder. This podcast was written by Ying Ling, a medical student at the University of Alberta with the help of Dr. Gail Andrew. Dr. Andrew is a professor in the Department of Pediatrics and the medical director of the FASD Clinical and Research Services at the Glenrose Rehabilitation Hospital. 


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