The scientific journal Human Reproduction Update has published a study led by Dr. Rita Vassena, scientific director of Eugin Clinic, that finds that this technique could provide solutions to the most complex cases of genetic disease, such as mitochondrial mutations
CRISPR is a bacterial component system that acts as a defense mechanism against possible attacks. This is the acronym in English for Clustered Regularly Interspaced Short Palindromic Repeats that designate short DNA sequences repeated regularly, which in the language of DNA, emulate the structure of a palindrome (a text that reads the same from left to right and right to left). The CRISPR lock onto the DNA of external agents such as viruses, and locate the potentially harmful genetic material. It is here when the Cas9 proteins come into action, which, like scissors, sever and suppress the harmful genes.
On the basis of the observation of this phenomenon, the scientific community has developed the CRISPR / Cas9 technique, which has enabled us to make a great leap forward as regards the possibilities of DNA modification.
Dr. Rita Vassena, scientific director of Eugin Clinic and member of the executive committee of the European Society of Human Reproduction and Embryology (ESHRE), has led the latest collaborative study on this technique, published in the journal Human Reproduction Update. In her view, the novelty provided by the CRISPR / Cas9, currently undergoing research, is that “it allows you to modify defects or mutations in the human genome very efficiently, accurately and with reduced costs”
Scientific breakthrough of the year
The development of this technique, which is making rapid progress and has been chosen as scientific breakthrough of the year by the journal Science, is not yet fully mature in the field of assisted reproduction, where, nevertheless, it opens up many possibilities in preventing the transmission of serious genetic diseases from parents to children, such as, for example, mitochondrial mutations.
Dr. Vassena points out that when the research has developed, “CRISPR / Cas9 will enable us to correct mutations and solve a large percentage of cases that today cannot be avoided with the current preconception or pre-implantation genetic diagnosis techniques.”. For Dr. Vassena, the conclusion is clear: “Even though we now have very effective techniques, we must not hinder research that may be able to provide new solutions”.
The immediate aim of the research in this area is to ensure the highest standards of efficacy and safety when it comes to intervening in the human gene flow. “Let’s not forget – Dr.Vassena stresses – that we are dealing with people.”
The Spanish regulatory framework, a reference point in Europe
European scientists who signed the article “Genome engineering through CRISPR / Cas9 technology in the human germline and pluripotent stem cells” are calling for a clearly defined regulatory framework in order to drive, with a degree of assurance, research into the CRIPSR / Cas9 technique, as well as its applications in the field of assisted reproduction.
The conditions are not in place in most neighbouring countries to make progress in CRISPR research on human embryos. As Rita Vassena highlights, “in Italy, for example, it is prohibited. However, in Spain the regulations are very clear and detailed. It is a privileged country for the carrying out of research in the field of assisted reproduction.”