Contemporary Approaches for Identifying Rare Bone Disease Causing Genes

Charles R. Farber, Thomas L. Clemens

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Recent improvements in the speed and accuracy of DNA sequencing, together with increasingly sophisticated mathematical approaches for annotating gene networks, have revolutionized the field of human genetics and made these once time consuming approaches assessable to most investigators. In the field of bone research, a particularly active area of gene discovery has occurred in patients with rare bone disorders such as osteogenesis imperfecta (OI) that are caused by mutations in single genes. In this perspective, we highlight some of these technological advances and describe how they have been used to identify the genetic determinants underlying two previously unexplained cases of OI. The widespread availability of advanced methods for DNA sequencing and bioinformatics analysis can be expected to greatly facilitate identification of novel gene networks that normally function to control bone formation and maintenance.

Original languageEnglish (US)
Pages (from-to)301-310
Number of pages10
JournalBone Research
StatePublished - Dec 31 2013


  • Exome sequencing
  • bioinformatics
  • bone restricted ifitm-like protein (Bril)
  • genome sequencing
  • osteogenesis imperfect
  • pigment epithelium-derived factor (PEDF)

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Physiology
  • Histology


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