Congenital anomalies are the main cause of premature death among neonates. It is estimated that each year, 276,000 newly born around the world, die on the first 4 weeks of life due to congenital anomalies (OMS, 2017). The most frequent are cardiac malformations, Neural tube defects and Down syndrome. The cause is not fully understood yet, but it has been associated that the origin can be genetic, infectious and environmental. There are so many preventive factors but it is hard to determine which could be the ones that can cause these complicated diseases.
In recent years, new techniques allow to correct some genetic defects. One of the most popular is the CRISPR genomic editing. Which allows cutting in a selective way, nucleotide sequences of genomic DNA of any cell, for example, genes that have predisposition for genetic diseases. This technique uses the nuclease protein to cut any desirable fragment of DNA, then the cells activate the natural repair process, re-attaching the two ends of the genetic sequence.
An international team of scientists tested this technique in human embryos. It was an association between some centers of United States and other countries. Seems to be that they probed to edit some genomic sequences without generating mosaicism, which can lead to some genetic variations that can be lethal. In addition, they seem to overcome these limitations generating dozens of viable human embryos, although the details of how this has been done are still unknown. All the embryos used in the study were destroyed after a few days, because the objective was only to demonstrate that the technique was successful. Moreover, one of the principal investigators is Shoukhrat Mitalipov, a respectable scientist pioneer of others reproduction studies, whom in 2013, was the first in accomplish human clonation to obtain mother cells. He has plenty of experience in this field, and we are anxious to see how it was done and what other information this investigation can contribute to the medical field.
There are so many investigations looking for new treatments that can give options that are more effective to patients that cannot afford expensive surgeries. Investigations such as those explained in paragraphs above need to be not only fully understood, but also be aware of the risks if the patients choose to participate. Here in Althian due to our increasing experience with clinical trials, we know how to reach not only potential patients, but also how information has to be explained to the patients so they can understand the whole protocol. We are fully committed to the patient. Contact us, so we can give you more information about which steps are needed to start a successful protocol.