Is Angelman Syndrome Gene Deletion Therapy On the Horizon?

According to Angelman Syndrome News, researchers used rat models of Angelman syndrome to test gene editing as a potential therapy. They found that CRISPR technology deleted the defective UBE3A gene. However, rats lacking UBE3A displayed similar traits to those with defective UBE3A. Find the full study published in Translational Psychiatry. 

Angelman Syndrome

Angelman syndrome (AS) is a rare neuro-genetic disorder that impacts the nervous system. Because of its connection to developmental and neurological issues, AS is often misdiagnosed as autism or cerebral palsy. The disorder is caused by a defective UBE3A gene on chromosome 15. While most patients have no family history of AS, the gene defect is inherited from the mother.

Symptoms of Angelman syndrome include developmental delays (lack of crawling or making noise), seizures, and difficulty moving. Additional symptoms include minimal speech, small head size, stiff movements, sleep disorders, tongue thrusting, and hand flapping. People with Angelman syndrome are often very happy, social, and excitable. Learn more about Angelman syndrome.

CRISPR & Gene Therapy

Previous research into AS used mice models. But these studies only practiced partial UBE3A deletion. The most recent study, which used rat models, sought to delete the entire UBE3A gene.

To do this, researchers used CRISPR. According to Live Science, CRISPR is sort of “like a pair of molecular scissors.” Basically, researchers can use the technology to alter DNA by editing genes. It can cut out defective genes, switch genes, or even insert working genes to better understand and treat genetic diseases.

The rat models with UBE3A removed were less vocal than other rats. Additionally, they were less likely to participate in social movement activities and climbing, and had more difficulty with problem-solving. Finally, these rat models had poor learning ability and memory capabilities. This suggests that deleting UBE3A results in the same patient outcomes, even in a novel display.

As such, gene editing technology to treat AS might want to focus more on gene replacement than gene deletion.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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