Rett Syndrome Revelation

Rett Syndrome Revelation


We found, and
we’ve been studying the cause and the
underlying defects that occur in neurons
in a particularly difficult neurodevelopmental
disease known as Rett syndrome. What we found is that
this gene, MECP2, regulates the expression and
the function of a very, very long genes. Now, these very long
genes are actually very important to the
function of the brain. And so, when MECP2 is lost
and these genes are disrupted, we think that contributes
to the disorder. We’re particularly excited
about the findings presented in this paper because we
feel that the identification of length dependent gene
misregulation in Rett syndrome has important implications
for the design of future therapeutics for Rett
syndrome and autism spectrum disorders in general.

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