Is MECP2 Duplication/Triplication Syndrome Reversible?

Huda Zoghbi, MD | Baylor College of Medicine

$236,000 AWARDED

The dramatic reversal of Rett symptoms in mice described by Adrian Bird in 2007 opened the field to questions that must now also be explored in the MECP2 Duplication Syndrome. We know that in Rett, restoration of proper MeCP2 function in mice only days away from death brought them back to health. Would elimination of the influence of excess MeCP2 in the Duplication Syndrome have a similarly dramatic effect?  The first project funded by the Fund will answer this question.  The lab of Huda Zoghbi at Baylor College of Medicine is conducting experiments to answer whether restoring proper amounts of Mecp2 in an animal model of the syndrome will reverse symptoms. If symptoms can be reversed is there a time period or can reversal also occur in adults, as in Rett?

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