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Kaler Lab: Section on Translational Neuroscience

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Overview

Stephen Kaler's Section on Translational Neuroscience 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 Section evaluates patient materials with cellular and molecular bench methods. Recently, the Section published a study demonstrating that initiation of copper replacement therapy in neonatal Menkes' disease patients shortly after birth greatly improves neurological outcomes. The Section also demonstrated that gene therapy in conjunction with copper injection can substantially extend life in a murine Menkes model. Moreover, in recent work, the Section showed that several mutations in the Menkes' disease gene cause a distal motor neuropathy.

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Last Updated Date: 01/03/2014
Last Reviewed Date: 01/03/2014

Contact Information

Name: Dr Stephen G Kaler
Investigator
Section on Translational Neuroscience
Phone: 301-451-6034
Fax: 301-480-8657
Email: sgk@box-s.nih.gov

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