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 the list of scientific discoveries of the year. This tool called CRISPR-Cas9, commonly known as “genetic cut and paste“, is attracting researchers around the world for its plasticity, ease of use and low cost. For this procedure, science is now closer to cure diseases for which there were no treatments or even prevent diseases in an individual and subsequent generations, now rising ethical issues because it involves acting on the embryo to change the DNA.

This technology can have major impact in rare diseases “Because there are very few patients and many diseases that are usually generated by mutations in one or more genes. Before much time was needed to study only one variation of the genome responsible for these diseases but now, in a few weeks, you can reproduce a mutation in a mouse and see what happens.” Luis Montoliu, Nacional Biotecnology Center.

The CRISPR-Cas9 method is simple to use and versatile in its function. It promises to make gene editing more accessible and cheaper, allowing everyone from major companies and amateur biohackers the opportunity to test their creativity and partake in the genetic revolution.

Best news is recently published a study about the verasitility of CRISPR and application in achondroplasia.

“Pathogenic mutations can be broadly classified as causing either gain or loss of function in a gene product. The gain-of-function mutation in FGFR3 in achondroplasia, results in the expression of a pathogenic gene product and may be treated by using NHEJ-mediated mutations to specifically inactivate the mutant allele while leaving the wild-type allele intact on the homologous chromosome.” Zhang et al., “Therapeutic genome editing: prospects and challenges“, 2015 Nature Medicine.

The enormous excitement surrounding genome editing needs to be coupled with strategic planning and rigorous but enabling regulatory processes to ensure the successful development of this class of potentially life-changing medicines. The technology will require a number of iterations to systematically optimize its efficacy, safety and specificity. Although still in its infancy, genome editing presents tantalizing opportunities for tackling a number of diseases that are beyond the reach of previous therapies. Given the accelerating pace of technological advances and broad range of basic science and clinical applications, the road ahead will undoubtedly be an exciting one.