Mouse Models of Rare Craniofacial Disorders

Annita Achilleos, Paul A. Trainor

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

Abstract

A rare disease is defined as a condition that affects less than 1 in 2000 individuals. Currently more than 7000 rare diseases have been documented, and most are thought to be of genetic origin. Rare diseases primarily affect children, and congenital craniofacial syndromes and disorders constitute a significant proportion of rare diseases, with over 700 having been described to date. Modeling craniofacial disorders in animal models has been instrumental in uncovering the etiology and pathogenesis of numerous conditions and in some cases has even led to potential therapeutic avenues for their prevention. In this chapter, we focus primarily on two general classes of rare disorders, ribosomopathies and ciliopathies, and the surprising finding that the disruption of fundamental, global processes can result in tissue-specific craniofacial defects. In addition, we discuss recent advances in understanding the pathogenesis of an extremely rare and specific craniofacial condition known as syngnathia, based on the first mouse models for this condition. Approximately 1% of all babies are born with a minor or major developmental anomaly, and individuals suffering from rare diseases deserve the same quality of treatment and care and attention to their disease as other patients.

Original languageEnglish
Title of host publicationCraniofacial Development, 2015
EditorsYang Chai
PublisherAcademic Press Inc.
Pages413-458
Number of pages46
ISBN (Print)9780124081413
DOIs
Publication statusPublished - 2015
Externally publishedYes

Publication series

NameCurrent Topics in Developmental Biology
Volume115
ISSN (Print)0070-2153

Keywords

  • Cilia
  • Ciliopathy
  • Craniofacial
  • Foxc1
  • Neural crest cells
  • Ribosome biogenesis
  • Ribosomopathy
  • Syngnathia
  • Tcof1

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