Can molecular surgery repair broken genes?

Science is about asking questions. Sixty years ago, the question was: what does our genetic code look like? Then: how many genes make up our DNA? After that: which genes cause diseases?

Now the question is: what if we could repair broken genes?

It has been a goal of doctors and scientists for decades to correct disease-causing mistakes in our DNA. A new technology called genome editing brings us closer to making that goal a reality.

Today we know that there are over 5,000 genes that cause genetic diseases, the majority of which have no cure or treatments. These are the diseases that stand to benefit most from genomic medicine and, specifically, the newest and most powerful genome-editing technology called CRISPR (pronounced “crisper”).

We hope that many severe and life-threatening diseases can be treated by technologies such as CRISPR: diseases such as cystic fibrosis, which attacks the lungs and digestive system; Duchenne muscular dystrophy (DMD), a muscle disease; and sickle cell disease, a debilitating blood disorder.

By “correcting” genetic defects in patients with these diseases, we hope to restore the normal function of the gene and significantly improve quality of life. For patients with DMD, this could mean being able to walk and breathe better; for patients with cystic fibrosis, this could mean breathing more easily; and for patients with sickle cell disease, this could mean reducing the painful crises caused by the disease.

CRISPR has taken the scientific research community by storm because it is easy to use and it can make DNA changes in many different settings and many different kinds of cells. Scientists can now investigate what different genes do and how they work together much more rapidly and comprehensively.

CRISPR relies on a programmable molecular machine (an enzyme) called Cas9 that binds to a small-guide RNA molecule. Together, these components home in on the target gene and carry out precise molecular “surgery” to create a genetic change. This can be used to correct a defect that causes a genetic disease. The technology is young, and it will take time to fully realize this promise. Some diseases will be more challenging than others, and there is a lot of work to be done to further extend CRISPR’s capabilities.

However, we are at a watershed moment in our understanding of genomic science. Not only have we identified many of the mutations that cause a variety of diseases but we have also identified a technology with the potential to create novel medicines that directly target and correct those mutations.

This is just one of the many areas we are exploring at Editas. We believe we have the opportunity to unlock a broad class of new transformative genomic medicines that will enable precise, corrective modifications to DNA to treat the underlying causes of genetic diseases. More importantly, we’re getting closer to making once untreatable conditions treatable by repairing broken genes.

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Full details on all of the Technology Pioneers 2015 can be found here 

Authors: Katrine Bosley is CEO, and Sandra Glucksmann COO, of Editas Medicine, a World Economic Forum Technology Pioneer

Image: Empty sample tubes showing their unique ‘2DID numbers’ wait to be filled at Biobank. Picture taken March 18, 2010. to match Special Report SCIENCE/GENOME REUTERS/Phil Noble.