We are facing a new milestone in the history of science. A group of researchers from UCSF Benioff Children’s Hospital in Oakland have tried a new treatment that consists of modifying the human genome of a patient, this with the intention of curing a genetic disorder. This procedure is the first attempt to edit a gene within the human body.
For several years we have worked at several levels in gene therapy, where we seek to modify genes in a laboratory before re-incorporating them into a human being. In this case, we are talking about that such modification will take place in the patient’s body, not in a laboratory. Hence its relevance, since this could change forever the genetic treatment of ailments that until now are incurable.
To wait three months before singing victory
Brian Madeux, 44, has become part of the story, as he is the first patient to receive a type of intravenous drug, which contains billions of copies of a corrective gene that is linked to a genetic tool that is able to modify its DNA.
This tool is known as ‘Zinc Finger Nucleases’ and is prior to CRISPR. His job is to cut the DNA in the right place, as if it were a “molecular scissor”, remove the gene responsible for the condition and insert the corrective gene. The instructions for this entire complex procedure are encoded in a virus that was modified to target the patient’s liver.
Madeux suffers from a rare genetic disorder called Hunter’s Syndrome, which is caused by a missing or malfunctioning enzyme. This causes your body to not be able to break down certain carbohydrates, causing them to accumulate and cause damage, such as increased head and liver size, hearing loss, joint stiffness, difficulty breathing and even mental problems. Unfortunately today there is no cure and its treatment consists of enzymatic therapies every week.
Most Hunter Syndrome patients die between 10 and 20 years, so the case of Madeux is one of those rare exceptions. Therefore, he decided to accept this experimental treatment knowing that there are many things that could go wrong. Madeux says it is worth giving it a chance despite the risks, as this could change the lives of millions of people, especially children, who are the most affected by this type of suffering.
Now the next thing is to wait at least three months, which is when they will get the results of the genetic modification and they will know if it was done correctly and there is no collateral damage. In case it is successful, the team of scientists will extend their tests to new adult patients to continue improving the technique, this with a view to starting treatment in children.