A recent article published by the University of California San Francisco looks back at the development of gene therapy technology and explores how scientists at the university are working to develop these therapies for patients.
Developing Gene Editing
Gene editing is a set of techniques used by scientists to change DNA, and researchers are hopeful that the method could help patients whose conditions have a genetic basis. Using gene editing, researchers can add, remove, and alter DNA. There are several different types of gene editing, but one that has received a lot of attention recently is CRISPR-Cas9, which could be a cheaper, quicker, and more accurate technique. CRISPR-Cas9 uses a short RNA ‘guide’ that can bind to a particular section of DNA, and then the attached Cas9 enzyme is able to cut the DNA, opening it up to add, remove, or alter that particular section. It’s estimated that 80% of rare diseases have a genetic component, so many researchers are hopeful that gene editing techniques like CRISPR-Cas9 could be used to ‘correct’ disorder-causing mutations. There’s a lot of on-going research in this area, and researchers are now working on developing therapies that are safe and effective in patients.
One of the conditions researchers are working on gene editing for is Charcot-Marie-Tooth disease (CMT). CMT is caused by a genetic mutation that can damage the peripheral nerves, leading to muscle weakness and numbness that gradually becomes more severe.
A lab, led by UCSF professor Dr Bruce Conklin, is working with patients to research gene editing techniques for CMT and another rare condition, BEST disease, which causes vision loss. These conditions were chosen, according to UCSF’s article, because they are known to be caused by single-gene mutations that can be targeted more easily, occur in tissues that are accessible for treatment, and currently, lack effective therapies.
One of the patients working with Dr Conklin is Delaney, a nineteen-year-old with CMT who is hopeful that gene therapies could be used for her condition. The scientists at the lab have studied samples of her cells extensively, and have been testing CRISPR gene editing techniques on them. Researching gene therapies in patients comes with unavoidable risks, but Delaney says that for her, it’s worth it. “We can’t know until we do it,” she says, “I’m fine being that person doing it. […] It’s nice to realise people are looking into a solution for people like me who don’t have any solutions.”