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Gene therapy helps treat children with rare brain disorder

Tuesday, June 19, 2012 - 02:38

June 19 - Gene therapy provides new hope for children with AADC deficiency, a rare genetic disorder that causes neurological impairment and impacts a child's ability to move and eat. Sharon Reich reports.

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STORY: Like most curious six-year-olds, Chichi enjoys self discovery. But a simple task like looking in the mirror during playtime wasn't always possible. In fact, Chichi is lucky to be alive. She suffers from Aromatic L-amino acid decarboxylase (AADC) deficiency, an extremely rare genetic disorder that blocks communication between cells in her nervous system ... making simple tasks like eating impossible without assistance. But thanks to a groundbreaking gene therapy treatment, the debilitating effects of her disease are now under control. Chichi's father Wang says he will never forget his daughters suffering when she couldn't move. (SOUNDBITE) (Mandarin) CHICHI'S FATHER WANG SAYING: "She would be in crisis every 2-3 days and she would vomit, emptying out her stomach. Sometimes both her blood and oxygen levels would drop, which was very painful for her, so I was determined to find a cure. I can't let her suffer because this could last a life time and I want to free her of this pain." That's just what Dr. Hwu Wuh-liang of National Taiwan University Hospital has done. Hwu has been working towards perfecting a gene therapy treatment which gives children like Chichi a new lease on life. During a surgical procedure doctors injected the AADC gene into the part of the brain that controls movement. (SOUNDBITE) (Mandarin) NATIONAL TAIWAN UNIVERSITY HOSPITAL, DEPARTMENT OF PAEDIATRICS AND MEDICAL GENETICS, DR. HWU WUH-LIANG SAYING: "We placed the injection tool on the head, and used a computer to help guide the process. We drilled a hole in the skull and inserted a needle 20 centimetres long into the putamen and slowly injected the AADC gene. The surgery takes at least 6 hours." Following surgery, Chichi showed signs of significant improvement. She is now able to sit upright without support and sleep through the night. While there are risks involved with the procedure, Dr. Hwu said that Chichi is living proof that gene therapy is a safe and effective treatment for AADC. (SOUNDBITE) (Mandarin) NATIONAL TAIWAN UNIVERSITY HOSPITAL, DEPARTMENT OF PAEDIATRICS AND MEDICAL GENETICS, DR. HWU WUH-LIANG SAYING: "Although I think this is not the ultimate cure, but we allowed her to survive and she began to grow and develop. In the future, she will be able to receive newer and better treatments. I think it brings hope to the entire field (of gene therapy)," he said. As for Chichi, she is enjoying her new found mobility, learning to laugh and play a little more each day. Sharon Reich, Reuters.

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Gene therapy helps treat children with rare brain disorder

Tuesday, June 19, 2012 - 02:38