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22, 01, 2016

A patient view in limb lengthening

My parents weren’t familiar with the words Achondroplasia, short stature or dwarfism until I was born. Many people told them that I was not going to ‘thrive.’ Very little was known about my condition at that time, leaving them in the dark about what my future may hold. Saving every article and pamphlet she could […] more

22, 01, 2016

A report about BMN-111 clinical trial in France

Since 1994 the identification of the gene responsible for achondroplasia, a form of dwarfism, medical and scientific research teams are trying to find a cure. Since 2014, a clinical trial is being conducted on children aged 5 to 13 years old and the first results are promising. In achondroplasia, the FGFR3 gene is mutated and this […] more

03, 01, 2016

A future for genetic diseases: CRIPSR-Cas9 genome editing

This is the new science! The genetic editing technology CRISPR-Cas9 can be an enormous promise for genetic diseases, including achondroplasia, being the most efficient method of gene editing available today. Emmanuelle Charpentier, French and Jennifer Doudna, American, received this year the Princess of Asturias Award for Research, and Science magazine raises this technique to the number one in […] more