What is Pediatric Rare Diseases?

The majority of uncommon diseases affect children, with the majority of them having a genetic reason for their illness. However, even with today's technology and understanding, making a molecular diagnosis can be difficult. Pediatric genomics is a young but quickly growing discipline that aims to solve this problem by merging next-generation sequencing technologies into research and clinical procedures, particularly whole-exome and whole-genome sequencing. 

This multidisciplinary approach, combined with the growing availability of data on population genetic variation, has already resulted in a higher incidence of causal gene identification and improved detection of rare pediatric diseases. Importantly, a greater understanding of the genetic basis of uncommon disease translates to more accurate prognosis, care, surveillance, and genetic advice for affected families; it stimulates research into new medicines; and it encourages research into new therapeutics.

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