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Stephen Kaler's Unit on Human Copper Metabolism investigates the copper transport disorder Menkes' disease and its allelic variant, occipital horn syndrome, with particular emphasis on the effects of early diagnosis and treatment. In an ongoing clinical trial, the Unit evaluates patient materials with cellular and molecular bench methods. Recently, the Unit published a study demonstrating that initiation of copper replacement therapy in neonatal Menkes' disease patients shortly after birth greatly improves neurological outcomes. The Unit also demonstrated that gene therapy in conjunction with copper injection can substantially extend life in a murine Menkes model. Moreover, in recent work, the Unit showed that several mutations in the Menkes' disease gene cause a distal motor neuropathy.