The Czech Academy of Sciences has highlighted the work of cell biologist Pavel Krejčí and his team at the Institute of Animal Physiology and Genetics, who study achondroplasia, the most common form of dwarfism, together with Johns Hopkins University in the United States.
The condition is caused by a mutation in the FGFR3 gene, which acts as a brake on cartilage growth. The mutation makes the brake overactive and slows the growth of long bones. An approved drug, Voxzogo, reduces this effect: in trials, treated children grew about 1.5 cm more per year than those given a placebo.
Around 350,000 people worldwide have achondroplasia, and 771 rare growth disorders are known. The Czech patient registry also suggests that older paternal age is not a risk factor, contrary to earlier assumptions.
The team holds a Praemium Academiae grant of CZK 30 million over six years. The researchers expect a new generation of drugs within about a decade that could act earlier, possibly even before birth.
