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Gene therapy shows promise in children with devastating genetic disorder Children with a devastating genetic disorder characterized by severe motor disability and developmental delay have experienced sometimes dramatic improvements in a gene therapy trial launched at UCSF Benioff Children s Hospitals. The trial includes seven children aged 4 to 9 born with deficiency of AADC, an enzyme involved in the synthesis of neurotransmitters, particularly dopamine, that leaves them unable to speak, feed themselves or hold up their head. Six of the children were treated at UCSF and one at Ohio State Wexner Medical Center. Children in the study experienced improved motor function, better mood, and longer sleep, and were able to interact more fully with their parents and siblings. Oculogyric crisis, a hallmark of the disorder involving involuntary upward fixed gaze that may last for hours and may be accompanied by seizure-like episodes, ceased in all but one patient. Results appear July 12, 20

Krystof bankiewiczNalin guptaEmily hendersonOhio state wexner medical centerNature communicationsWeil institute for neurosciencesOhio state universityDepartment of neurological surgeryOhio state wexner medicalNeurological surgeryWeil instituteOhio stateநலின் குப்தாஎமிலி ஹென்டர்சன்ஓஹியோ நிலை வெக்ஸ்னர் மருத்துவ மையம்இயற்கை தகவல்தொடர்புகள்