One of their biggest successes uses gene therapy to treat a rare genetic disorder called aromatic L-amino acid decarboxylase (AADC) deficiency.

Children with AADC deficient are missing the enzyme that produces dopamine and serotonin in the central nervous system. This affects pathways in the brain responsible for motor function and emotions.

As a result, these children cant coordinate the movements of their head, face and neck. They often dont reach normal childhood milestones, such as sitting up or walking by themselves.

Along with her mother, Arcelia Ramirez, they traveled 800 miles from their home near Omaha, Neb., so that Delilah could have this life-changing gene therapy surgery at Ohio State Wexner Medical Center.

But now, Delilah has changed so much for the better. On her 9th birthday, she blew out a candle on her cupcake on purpose. This was the first time she had ever blown out a birthday candle.

She's like a different kid. Her sleeping is a lot better. She can walk now, she can self-feed, said Arcelia Ramirez. When she started using a fork, that was a reason to celebrate. When she started using a straw, that was a reason to celebrate. Walking was a big, big milestone for her that we just celebrated.

So we are bringing in a correctly spelled sequence of the gene, said Bankiewicz, who is also chief scientific officer at the Ohio State Gene Therapy Institute.

This helps ensure we put the genetic material in exactly the right place, so the brain will start making dopamine and serotonin again, said Elder, who also is a professor of neurological surgery. This

therapy is designed to approach both parts of the brain that control movements and emotions.

This breakthrough in treating patients with AADC was decades in the making.

It requires a use of the technology and devices that we had to develop and establish over the years to do these surgeries very precisely, very carefully and then do it safely, Bankiewicz said. The issue of, Is it going to work? It's no longer being questioned. It works.

In addition to expanding this method to central nervous system diseases such as Alzheimers, Parkinsons, Multiple System Atrophy and Huntingtons disease, Elder and Bankiewicz are also trying to edit genetic mutations in other neurological disorders, including brain tumors.

We are not treating a gene that causes Parkinson's or Alzheimer's, Bankiewicz said. We're using this technology to deliver a therapeutic that we believe will, in a positive way, affect the progression of the disease.

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Media Contact: Eileen Scahill, Wexner Medical Center Media Relations, Eileen.Scahill@osumc.edu

Original post:
The future of gene therapy has arrived, and it's changing lives - Wexner Medical Center - The Ohio State University

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