A Single Dose of CRISPR Treats a Progressive Genetic Disease in Humans
The preliminary data suggests that this could be a promising new treatment.
A rare genetic disease causes the buildup of misshaped proteins in the heart and nerve cells. Scientists injected molecular scissors, to “cut out” the genetic mutation that caused it. In a preliminary human trial, this dramatically reduced the accumulation of this protein.
Transthyretin amyloidosis is a rare genetic disease caused by a mutation in the transthyretin (TTR) gene. The mutated TTR protein is made in the liver and released to the rest of the body. It builds up in the nerves and the heart, leading to sensory problems and heart disease.
While there are treatments to manage this disease, we don’t have a cure. What is promising, however, is we know exactly which gene is responsible. Take a look at the image below, it is a biopsy of heart tissue. The large pink blob in the center is the result of amyloidosis.
Advances in molecular biology allow scientists to target this gene with molecular scissors. This machinery, called CRISPR-Cas9, was first…
