Researcher's Profile


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Research Outline      2014-11-09 13:55:30

Dr. Hwu is dedicated to innovative diagnosis and treatment for human genetic diseases. He is the former director of the Taiwan Newborn Screening Laboratory at NTUH, at that time he established Pompe Disease newborn screening. He is now still the director of the biochemical genetics laboratory and is developing tests and offering clinical laboratory service for lysosomal storage diseases. Dr. Hwu is now focusing on gene therapy for genetic diseases, specifically, for aromatic l-amino acid decarboxylase (AADC) deficiency. The treatment includes injection of adeno-associated virus into the human brain. The treatment results from 4 patients have been published in Science Translational Medicine. In order to develop this gene therapy, a mouse model of AADC deficiency has been created in the lab. These mice are being characterized by histochemical and behavior sciences. And studies of gene therapy for these mice are also ongoing.