A new medical review has outlined exciting progress in treating achondroplasia, a genetic condition that causes dwarfism. The findings were published in the journal Genes & Diseases and focus on how the disorder develops and how it might be treated.
Achondroplasia is caused by mutations in the FGFR3 gene. This gene normally helps bones grow, but in this condition, it becomes too active and disrupts normal bone development. This leads to short stature, spine and skull problems, and joint issues.
The overactive FGFR3 gene blocks important signals that help bones grow. It lowers the number of bone-making cells and harms cartilage. This affects the shape and strength of bones throughout the body.
New research also shows FGFR3 affects other bone cells, like osteoblasts, which help build bone. The gene even influences the health of joints and spinal discs, showing how widespread its impact can be.
Doctors are now testing a range of new treatments. Some use lab-made antibodies to block the FGFR3 gene. Others use drugs or even gene-editing tools like CRISPR to fix the problem at its source.
Drugs like recifercept and infigratinib are designed to block FGFR3’s signals. Other medications, like meclozine and vosoritide, help bone cells grow better. These treatments may work alone or together with current therapies.
Surgery to lengthen bones is still an option, but it carries many risks. Hormone treatments like growth hormone shots can help some children, especially when used with new medicines.
In the future, scientists hope to use stem cells and gene editing to repair FGFR3 mutations completely. These treatments are still in early stages but bring hope to families affected by achondroplasia.
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