MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function.

Increased levels of MECP2 protein results in abnormal neural function and impaired immune system.

Advances in genetic testing and more widespread use of Array Comparative Genomic Hybridization has led to increased diagnosis of MECP2 duplication syndrome.

[4] In a Nature article published on November 25, 2015, it was revealed that researchers at the Baylor College of Medicine, led by Dr. Huda Y. Zoghbi, have reversed MECP2 Duplication Syndrome in adult symptomatic mice using antisense therapy.

[9] Mice treated with an experimental ASO administered through the central nervous system had a reduction of MECP2 protein to normal levels and symptoms of hypoactivity, anxiety, and abnormal social behavior were resolved.