Newswise – COLUMBUS, Ohio – A novel gene therapy is improving lives in ways once thought impossible. Researchers at The Ohio State University Wexner Medical Center and College of Medicine have developed a new platform that can deliver gene therapy precisely to specific areas of the brain.
Their study builds on previous work from Ohio State University and the University of California, San Francisco, targeting gene therapy delivery to the midbrain near the brainstem.
Some of their research now focuses on Alzheimer’s and Parkinson’s disease patients. According to the World Health Organization, more than 55 million people worldwide have Alzheimer’s disease. According to the Parkinson’s Disease Foundation, another 10 million people have Parkinson’s disease, the second most common neurodegenerative disease after Alzheimer’s disease.
One of their biggest successes has been using gene therapy to treat a rare genetic disease called aromatic L-amino acid decarboxylase (AADC) deficiency.
Children with AADC deficiency lack the enzymes that produce dopamine and serotonin in the central nervous system. This affects pathways in the brain responsible for motor function and mood.
As a result, these children are unable to coordinate the movements of their head, face, and neck. They often fail to reach normal childhood milestones, such as sitting up or walking on their own.
According to the Genetic and Rare Disease Information Center, fewer than 1,000 people worldwide are estimated to have AADC deficiency. One of them is 9-year-old Delilah Ramirez.
Along with her mother, Arcelia Ramirez, they traveled 800 miles from their home near Omaha, Nebraska, to receive the life-changing treatment at Ohio State Wexner Medical Center. Gene therapy surgery.
At the time of surgery in July 2022, Delilah was unable to lift her head or sit up on her own. She relies on a power wheelchair to get around. She couldn’t eat or sleep through the night. She has emotional outbursts and suffers epileptiform seizures that can last for hours.
But now, Delilah has changed a lot—for the better.On her 9thth On her birthday, she intentionally blew out the candles on the cupcakes. This was the first time she blew out her birthday candles.
“She’s like a different child. She’s sleeping a lot better. She can walk now, she can feed herself,” Azalea Ramirez said. “When she starts using a fork, it’s a reason to celebrate. When she starts using a straw, it’s a reason to celebrate. Walking was a really, really big milestone for her and we just celebrated that.
AADC deficiency is one of thousands of diseases caused by genetic mutations. It’s like a misspelling in Delilah’s DNA, said Dr. Krystof Bankiewicz, a professor of neurosurgery at Ohio State University.
“So we introduced the genetic sequence with the correct spelling,” said Bankiewicz, who is also chief scientific officer of the Ohio State Gene Therapy Institute.
To do this, neurosurgeon James “Brad” Elder, M.D., and his team at Wexner Medical Center injected genetic material directly into precise parts of the brain and tracked it in real time using MRI.
“This helps ensure that we put the genetic material in the right place so that the brain starts producing dopamine and serotonin again,” said Elder, a professor of neurosurgery. “This therapy is designed to work on two parts of the brain that control movement and emotion.”
This breakthrough in treating AADC patients took decades.
“It requires doing these surgeries very precisely, very carefully, using the technology and equipment that we’ve developed and built over the years, and then doing it safely,” Bankiewicz said. “The question is, ‘Will it work?’ Questioned. Useful.
In addition to extending this approach to central nervous system diseases such as Alzheimer’s, Parkinson’s, multiple system atrophy, and Huntington’s disease, Elder and Bankiewicz are also trying to edit other neurological diseases ( including brain tumors).
“We don’t treat the genes that cause Parkinson’s disease or Alzheimer’s disease,” Bankiewicz said. “We are leveraging this technology to deliver a treatment that we believe will impact the progression of the disease in a positive way.”
For more information about gene therapy clinical trials and research, visit the Ohio State Gene Therapy Institute.
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