CRISPR-cas9 … Genetic engineering offers real hope of advancement

The year 2015 ended with the announcement of great news for the DMD community. Indeed, the scientific community has been voicing much enthusiasm at the discovery of a genetic engineering technique that will eventually help us with a wide array of things, such as protecting certain endangered species, stopping malaria and curing diseases!

Genetic “cut and paste”

The event is of such scientific importance that Science magazine awarded the title of a scientific breakthrough of the year to the genetic engineering technology referred to as CRISPR/cas9. La Presse + published an interesting and informative article on the subject in its January 17, 2016, edition.

Derived from a bacterial defence mechanism, a new gene suppression and insertion technique is spreading like wildfire in laboratories everywhere. Thanks to its high targeting accuracy, CRISPR-cas9 is by far the most effective technique to correct DNA defects. It’s described as a “molecular kit” of sorts, a clever and complex toolkit that enables us to perform “cut and paste” operations in the DNA of living things.

This technology works as follows:

  • The CRISPR component – a type of gene sequence found naturally in certain organisms, including viruses – can recognize a specific genome sequence, that is to say, go to the place where lies the defect responsible for the disease.
  • The Cas9 component acts as a pair of scissors and can “cut” in the DNA at a specific location, i.e., where action must be taken.
  • From here, one can either choose to remove a genetic mutation or insert a fix for the faulty gene.
  • Using its normal DNA repair mechanisms, the cell will then naturally reattach the strands.

The latest results obtained in mice demonstrate the CRISPR method’s potential for correcting certain genetic abnormalities after birth.

An encouraging step in the fight against DMD

As we know, DMD is the result of an error in the “writing” of the gene responsible for producing dystrophin. In people suffering from Duchenne muscular dystrophy, the dystrophin gene has undergone a genetic mutation: the gene is badly written, the cellular machinery expected to read it cannot do it, and as a result, the protein is simply not produced.

Researchers have undertaken to use CRISPR/Cas9 to remove the mutated part of the gene. By erasing the illegible component blocking the genetic material’s decoding process and introducing a proper genetic sequence, researchers have restored the production of dystrophin, which is essential to the proper functioning of the muscle.

To spread their molecular kit in all of the body’s cells of the researchers found a way to put it on board of viruses that have a particular attraction to muscle cells. They then injected this mixture into diseased mice. After a few weeks, the muscles of these rodents began synthesizing dystrophin, a substance they were previously unable to produce…

Cautiously excited…

As exciting as the news of this extraordinary discovery is, we are still far from our common goal: it must be kept in mind that testing has only been performed on mice at this time, and researchers warn that the real challenge will be to transpose this in humans and potentially have to deal with an immune response from the patient.

That being said, it will be extremely interesting to see where it takes us!

A few relevant links:

Together for change

TEXT AS PUBLISHED IN PORTFOLIO MAGAZINE SOTHEBY’S

We are thankful to Sotheby’s International Realty team for publishing this article.

“Very little is done in Canada for the DMD and parents are sent back home with no hope when it is no longer the case. On the long term, La Force is to become a guiding light for patients with DMD”

La Force was created following the diagnostic of Anakin Lacasse (son MC president Foundation). Muscular Dystrophy is a terrible genetic disease, it is fatal, with no cure and lead to premature death (about 20 years old). Looking at your kid slowly dying, is the worst for parents, family and friends.  La Force was positive that resides in our decision to become actors rather than spectators in this terrible tragedy.  Very little is done in Canada for DMD, Parents are most often faced with the sole option of having to prepare for early death when this is no longer the case. New and emerging technology provides hope but it’s practically inaccessible, mainly due to the disease’s lack of notoriety. People would like to help but most don’t know about the challenges associated with rare disease treatment accessibility and don’t know how they can help. Furthermore, without strategic and leveraged effort, individuals’ voices are ineffective. Those who want to help need to do so in unison and in a highly focused way to bring about change.

«Strength in Unity»

Our long-term goal is to become the leading representative group for patients with DMD in Canada.  Our mission is to make DMD treatment available immediately to kids in need. Our approach is first and foremost to raise consumer and political awareness by way of information campaigns. We use grassroots sporting events, social media leverage, representations and high-level contacts to achieve our goal. We are also participating in the funding of promising research we have to dedicated funds one for Dr. Rudniki and one for Dr. Jérôme Frenette.

«La Force: powered by the community»

The effort of team 1 VIE-Tess combine with the right use of web marketing had a huge impact this year for La Force.  Our online video had over 80,000 views, we had extensive local media coverage and a segment on RDS TV show…

All this media visibility gave us the right tools to have access to a new treatment not approved in Canada.  The rise of the community in Mont-Tremblant has been simply amazing, last year people in the community (not only close friends) organize spontaneously fundraising events of all kinds. La Force has been powered, by pure compassion and every sporting event and every single person wearing our t-shirt have built a movement and made us believe we can make a difference in the race to a cure.