But even those with a diagnosis face hard times. Of the “7,000 different types of rare diseases and disorders . . . 95% of rare diseases have not one single FDA approved drug treatment” (Rare Diseases, 2015). That means that most patients must live with a devastating illness with no treatment options.

But a new technology is emerging. It is an innovation so powerful that it could save tens of thousands of lives and change medicine forever. Such unprecedented hope lies in CRISPR/CAS9 from CRISPR Therapeutics.

What is it?

To begin, let’s examine a few key terms:

• CRISPR – “Clustered Regularly Interspaced Short Palindromic Repeats occurring in the genome of certain bacteria” (CRISPR/CAS9, 2015).
• CAS9 – “a CRISPR-associated endonuclease (an enzyme); the “molecular scissors” (CRISPR/CAS9, 2015).
• crRNA – a type of molecule that tells the CAS9 where to cut and edit
• tracrRNA –  another type of molecule that tells the CAS9 where to cut and edit
• sgRNA – “single guide RNA” that combines crRNA and sgRNA to guide the CAS9 (CRISPR/CAS9, 2015).

Essentially, scientists have discovered a chemical that locates and corrects the mutated genes that cause disease. In other words, CRISPR shows you how to edit, CAS9 gives you the tools to make the edit, and crRNA, tracrRNA, and sgRNA show you where to make the edit. Once the edits are in place, the human body’s own mechanisms complete the repair (CRISPR/CAS9, 2015).

How did it start?

In 1987, scientists noticed groups of repeating structures within certain species of bacteria. They knew the structures were significant, but didn’t know why. Finally, in 2002, scientists named them CRISPR, and discovered the CAS9 molecules next to them. Three years later, scientists learned that the structures activate the immune system. In 2011, Dr. Dr. Emmanuelle Charpentier discovered tracrRNA, and then crRNA the following year. Since then, the CRISPR/CAS9 system has consistently shown promise as a groundbreaking new technology.

How does it work?

Just as one pill cannot treat every disease, one CRISPR/CAS9 technique is not appropriate for every disease. To date, CRIPSR Therapeutics has developed two main techniques that use the CRIPSR/CAS9 system:

• Ex vivo: For this technique, scientists remove cells, edit them in a culture, allow the edited cells to grow, and inject them back into the patient. This technique applies to “hemoglobinopathies, such as sickle cell disease and beta thalassemia, certain types of immunodeficiencies, and . . . cancer” (Therapeutic Approach, 2015).
• In vivo: During this procedure, the technician will administer the CRISPR/CAS9 system to an organ or to the entire body. This method addresses certain “diseases of the liver, eye and lung among others” (Therapeutic Approach, 2015).

What’s next?

CRISPR/CAS9 is still in the research phases, and technicians have tried the system in only a limited number of illnesses. There is still much to do and much to learn. Nonetheless, the CRISPR/CAS9 system is showing great potential. Two diseases, beta-thalassemia and sickle cell disease, will soon enter the first phase of clinical trials (Our Pipeline, 2015). Every day brings patients closer to a cure.    

Though it is still a work in progress, CRISPR/CAS9 remains at the forefront of medical technology. Each day, CRISPR Therapeutics pushes us ever closer to a life-saving revolution in medicine. For countless rare disease patients, such potential blossoms into hope. With this hope, patients everywhere can fight harder, live longer, and embrace a brighter tomorrow.

Resources

CRISPR/Cas9 GENE EDITING. (2015). Retrieved September 22, 2016, from crisprtx.com/our-programs/crispr-cas9-gene-editing.php

OUR PIPELINE. (2015). Retrieved September 22, 2016, from crisprtx.com/our-programs/our-pipeline.php

OUR THERAPEUTIC APPROACH. (2015). Retrieved September 22, 2016, from crisprtx.com/our-programs/our-therapeutic-approach.php

RARE Diseases: Facts and Statistics. (2015). Retrieved from https://globalgenes.org/rare-diseases-facts-statistics/