Repairing a genetic mutation could eliminate a lifetime of suffering. Until recently, the only option was gene therapy, which many perceive as risky. Recent successes in gene therapy and new advances in gene editing technology may mean doctors and patients will have many options. Researchers have worked for years to devise techniques to surmount the challenges associated with altering a genome safely. The latest of these, CRISPR, has moved beyond the proof-of-concept stage, as MIT researchers have used the technique to reverse a disease in a living organism.
The research, conducted on mice, reversed a mutation that prevents organisms from producing a particular enzyme called FAH. Left untreated, FAH can lead to liver failure. Current treatments include a low-protein diet and various medicines. In contrast, CRISPR could help the 3,000 American sufferers lead entirely normal lives.
The potential impact of CRISPR on the standard of care is obvious: with as little as one treatment many chronic and painful diseases could become curable. If it continues to find success, the 20,000 Americans suffering from hemophilia and 30,000 from Huntington’s disease may not have to face life with an incurable disease. Aggregate ongoing annual treatment costs for these two diseases runs into the billions of dollars -approximately $7.1 billion for Huntington’s  and $16 billion for hemophilia . Replacing that ongoing expense with a one-time regimen would result in profound economic and quality of life benefits. It would also put existing franchises, which address these diseases (Baxter International [BAX] , Biogen Idec [BIIB] and Prana Biotechnology [PRAN]) at risk.
While CRISPR is an exciting new technology, it is several years from clinical use and is only one of many shots that may hit the target. Bluebird Bio [BLUE] , Celladon [CLDN] and Uniqure [QURE] all have raised money in the public markets based on the potential viability of their gene therapies. Could it be only a matter of time before congenital diseases become a curse of the past?