The evolving therapeutic landscape of genetic skeletal disorders.

Published in: Orphanet journal of rare diseases (2019)

It is an exciting time for GSD therapies despite the challenges of drug development in rare diseases. In discussing emerging therapies, we explore novel approaches to drug development from drug repurposing to in-utero stem cell transplants. We highlight the improved understanding of bone pathophysiology, genetic pathways and challenges of developing gene therapies for GSDs.

Keyphrases

stem cells
genome wide
copy number
dna methylation
bone mineral density
emergency department
gene expression
bone marrow
soft tissue
body composition
adverse drug
electronic health record