• Kym M Boycott, David A Dyment, Sarah L Sawyer, Megan R Vanstone, and Chandree L Beaulieu.
• Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1 Canada; email: kboycott@cheo.on.ca , ddyment@cheo.on.ca , ssawyer@cheo.on.ca , mvanstone@cheo.on.ca , cbeaulieu@cheo.on.ca .
• Annu. Rev. Med. 2014 Jan 1; 65: 19-31.

AbstractGenes causing rare heritable childhood diseases are being discovered at an accelerating pace driven by the decreasing cost and increasing accessibility of next-generation DNA sequencing combined with the maturation of strategies for successful gene identification. The findings are shedding light on the biological mechanisms of childhood disease and broadening the phenotypic spectrum of many clinical syndromes. Still, thousands of childhood disease genes remain to be identified, and given their increasing rarity, this will require large-scale collaboration that includes mechanisms for sharing phenotypic and genotypic data sets. Nonetheless, genomic technologies are poised for widespread translation to clinical practice for the benefit of children and families living with these rare diseases.

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