Gene-editing tool corrects two autism-linked genes in lab-grown mini-brains, an early step toward a possible treatment
Researchers used a “CRISPR activation” switch to turn up CHD8 and SCN2A in human brain tissue grown in a dish, reversing cell changes tied to autism. It is lab work, not a therapy.
Scientists corrected the effects of two genetic changes linked to autism in human brain tissue grown in a lab dish, using a version of the gene-editing tool CRISPR, according to a study published Nov. 13 in the journal Nature Neuroscience. The researchers call it an early proof of principle that could point toward future treatments for some forms of autism.
Autism spectrum disorder is a common, highly inherited condition that affects social communication and behavior. Some cases are caused by a “hominsufficient” mutation — meaning one of a person’s two copies of a gene is broken, so the gene makes too little of its protein. The team focused on two of the best-established autism genes, called CHD8 and SCN2A.
What they did
The scientists used CRISPR activation, or CRISPR-A. Ordinary CRISPR cuts DNA; CRISPR-A instead acts like a dimmer switch that turns a gene up without cutting it. They aimed it at “enhancers,” the stretches of DNA that control how strongly a nearby gene is read, to boost the healthy copy back toward normal levels — enough to compensate, but not so much as to overshoot.
They tested it in two human models: lab-grown nerve cells, and “cerebral organoids,” pea-sized clumps of brain-like tissue grown from stem cells that mimic early brain development. Organoids with the CHD8 mutation grew abnormally large, echoing the larger head size seen in some children with that mutation. Turning the gene back up brought the organoids’ size and cell makeup toward normal. For SCN2A, boosting the gene restored normal electrical firing in the neurons.
What it means, and what it doesn’t
This is laboratory research in cells and tissue, not a treatment that has been tried in people. The authors list limits: the delivery method reached only some cells, and the effect faded over time. Years of further work and safety testing would be needed before any human trial. Still, the approach is notable because, in principle, it could apply to any condition caused by a missing gene copy, and because it restores a gene using the body’s own controls rather than adding a new one.