Monthly Archives: August 2015

Mission Accomplished? What novel gene discovery teaches us about leukodystrophies

Leukodystrophies remain a diagnostic challenge for practitioners and families. Next generation sequencing (NGS) offers exciting opportunities to expand our understanding of disease phenotypes and to explore pathophysiologic mechanisms, based on the molecular cause of abnormalities in central nervous system white matter. The diagnostic odyssey and its implications are discussed, from the perspective of an Australian family. Additionally, an update is provided on the contributions of NGS to the description of novel leukodystrophies and their treatments in this ever expanding field.

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Cerebral palsy – a changing landscape 2015 and beyond

The WHO’s International Classification of Functioning (ICF) was published in 2001. Advocates in the field of developmental disability have been promoting its use as an integrated and strengths-based approach to our thinking, actions, and research. Building on the ICF framework, colleagues at CanChild Centre in Canada published a tongue-in-cheek paper entitled “The F-words in Childhood Disability: I swear this is how we should think”.

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Implementing Genomics into Clinical Care at Melbourne Children’s

Genomic technologies have the potential to transform how we deliver healthcare. Genomic medicine promises better patient outcomes and a more efficient health system through rapid diagnosis, early intervention, prevention and targeted therapies. However, there are significant hurdles that need to be overcome to implement genomics into routine clinical practice.

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