Stephen G. Kaler, M.D. Molecular Medicine Program Section on Translational Neuroscience National Institute of Child Health & Human Development National.

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Stephen G. Kaler, M.D. Molecular Medicine Program Section on Translational Neuroscience National Institute of Child Health & Human Development National Institutes of Health, Bethesda, MD Studies on Menkes Disease

Menkes disease causes premature death Death typical by 4 months to 3 years of age >90% of untreated patients die by age % of “late” treated (older than 1 month) 27.9% of “early” treated (younger than 1 month) Currently available treatment: Daily copper injections for several years

Early Copper Treatment is Sometimes Very Effective

President Obama with Protocol 09-CH-0059 Subject #34 (Campaign stop in Colorado, September 2012) ATP7A del exon 3-7

Brain-directed gene therapy with adeno-associated virus: A promising new direction the Kaler Laboratory is pursuing Molecular Therapy (2012)