1st drug to treat genetic cause of dwarfism approved by FDA

The Food and Drug Administration (FDA) has approved the first drug to treat the most common form of dwarfism, known as achondroplasia.

Achondroplasia is caused by mutations in the FGFR3 gene, which encodes instructions to build a protein involved in bone growth and development, according to the Genetic and Rare Diseases Information Center. These mutations push the gene into overdrive, studies suggest, which impedes the process by which cartilage tissue gets replaced by bone; this leads to the development of short and abnormally-shaped bones and causes people with achondroplasia to be of short stature. In addition to dwarfism, the mutations can cause health complications, such as sleep apnea, recurrent ear infections, a build-up of fluid in the brain and skeletal problems that require surgery to correct.

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