The evolving therapeutic landscape of genetic skeletal disorders.

ABSTRACT: BACKGROUND:Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unparalleled therapeutic advance. This review explores the evolving therapeutic landscape of genetic skeletal disorders (GSDs); the key conditions and there key differentials. METHODS:A retrospective literature based review was conducted in December 2018 using a systematic search strategy for relevant articles and trials in Pubmed and clinicaltrials.gov respectively. Over 140 articles and 80 trials were generated for review. RESULTS:Over 20 personalised therapies are discussed in addition to several novel disease modifying treatments in over 25 GSDs. Treatments discussed are at

SUBMITTER: Sabir AH 

PROVIDER: S-EPMC6937740 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature