Current state of the art in treatment of Mendelian disease: Skeletal dysplasias

Research output: Contribution to journalArticlepeer-review

Abstract

The current state of the art in treatment of Mendelian disease, specifically skeletal dysplasias, benefits tremendously from Dr. Victor McKusick's early delineation and standardization of the nomenclature surrounding these conditions. Through close observation and careful description of each dysplasia to flesh out the nosologic backbone of the genetic skeletal disorders, individuals with the same diagnosis were identified and grouped together for genetic interrogation. These efforts have resulted in the identification of the genetic etiology of nearly all recognized skeletal disorders. This, in turn, is leading to disease-specific treatment for many of the skeletal dysplasias in this new era of precision medicine. Furthermore, Dr. McKusick's natural history descriptions of many genetic skeletal disorders helped to establish the baseline disease state against which the effect of new treatment is compared.

Original languageEnglish (US)
Pages (from-to)3359-3368
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume185
Issue number11
DOIs
StatePublished - Nov 2021

Keywords

  • McKusick
  • dwarfism
  • nosology
  • precision medicine
  • skeletal dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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