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

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.

Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction

“…Also discussed in the article is the importance of newborn screening in the early diagnosis of these metabolic disorders. The next paper titled “Current State of the Art in Treatment of Mendelian Disease—Skeletal Dysplasias” by Hoover‐Fong (2021) provides a summary of the therapies for skeletal dysplasias that are approved for clinical use and those that are investigational for which clinical trials are ongoing or proposed. The authors give a historical perspective regarding how Victor McKusick's work through the years set the stage for current therapeutic approaches for persons with skeletal dysplasias through his early delineation and focus on standardized nomenclature, which allowed for identification of the genetic etiology and disease‐specific treatment for many of these disorders.…”