SEATTLE, Wash. — Scientists at the Allen Institute have made a major breakthrough in research for people living with Dravet Syndrome, which is a rare and debilitating form of epilepsy that starts within the first year of one’s life.
Dravet Syndrome impacts 1 in about every 15,700 infants in the U.S.
Most cases are caused by a mutation of the SCN1A gene, which is important for proper brain cell function.
Seizures people with Dravet experience include myoclonic (brief, jerking movements), tonic-clonic (the whole body shaking) and focal (affecting just one part of the body).
Kids living with this form of epilepsy may develop behavioral challenges, like hyperactivity, autism or attention deficit hyperactive disorder (ADHD).
“People who take drugs for epilepsy often complain that the drugs are very impactful, they can slow down the seizures but it changes a lot about their brain,” said Boaz Levi, Ph.D., associate investigator at the Allen Institute, who co-led the study with Franck Kalume, Ph.D., an associate professor at the University of Washington and principal investigator at Seattle Children’s Research Institute. “Our goal is to be very precise, where we can deliver just the gene that’s missing and really target the circuit. Because of that, it can be much safer, more effective, and significantly reduce side effects,” said Levi.
The Allen Institute in Seattle have created a new gene replacement therapy in mice that could lead to better treatments in humans.
This therapy comes in two steps: precision gene delivery, which uses short stretches of DNA that act like switches to control when and where a specific gene is turned on, and solving gene size limits using AAV vectors (harmless viruses that can deliver genes to cells): imagine it like a furniture delivery that has to be broken up into two loads because it can’t fit through the front door in one piece.
When mice were treated with the two-pronged approach, researchers at Allen found that seizures stopped, recovery was long-lasting and there were no adverse effects from the treatment.
The goal for releasing this groundbreaking research is to highlight how effective cell-specific therapies to treat genetic disorders like Dravet Syndrome.
“These are people who are going to have a severely impacted standard of living,” said Levi. “We are hopeful this sort of a therapy could have a huge impact for families, and that’s what’s exciting to me.”
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