Paediatric genomics: diagnosing rare disease in children

Caroline F. Wright, David R. FitzPatrick, Helen V. Firth*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with current technologies and knowledge is often still a challenge. Paediatric genomics is an immature but rapidly evolving field that tackles this issue by incorporating next-generation sequencing technologies, especially whole-exome sequencing and whole-genome sequencing, into research and clinical workflows. This complex multidisciplinary approach, coupled with the increasing availability of population genetic variation data, has already resulted in an increased discovery rate of causative genes and in improved diagnosis of rare paediatric disease. Importantly, for affected families, a better understanding of the genetic basis of rare disease translates to more accurate prognosis, management, surveillance and genetic advice; stimulates research into new therapies; and enables provision of better support.

Original languageEnglish
Pages (from-to)253-268
Number of pages16
JournalNature Reviews Genetics
Volume19
Issue number5
Early online date5 Feb 2018
DOIs
Publication statusPublished - May 2018

Keywords

  • ONLINE MENDELIAN INHERITANCE
  • DUCHENNE MUSCULAR-DYSTROPHY
  • AUTISM SPECTRUM DISORDERS
  • ONSET GENETIC-DISEASES
  • COPY-NUMBER VARIATION
  • WHOLE-GENOME
  • INCIDENTAL FINDINGS
  • CLINICAL-PRACTICE
  • CYSTIC-FIBROSIS
  • NEURODEVELOPMENTAL DISORDERS

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