A recent issue of BioWorld Insight, the weekly newsletter that provides behind-the-scenes analysis and commentary on the biotechnology industry, included a feature article on Rett Syndrome. The piece explored how recent interest in rare diseases on the part of pharmaceutical/biotech industry may impact research in disorders such as Rett Syndrome and Fragile X.
Science, Rare Disease Push Help Developmental Disorders
By Anette Breindl
In its last issue of the year, Science – one of the premier journals for peer-reviewed scientiﬁc research – published both what it considers to be the biggest breakthrough of the past year, and areas to watch for the next year. For 2012, one of those hopeful areas was “treating intellectual disability.”
According to the story, “the cognitive deﬁcits and behavioral problems caused by Rett, Fragile X and Down syndromes have long been considered irreversible. In each syndrome, a genetic glitch causes brain development to go awry even before birth. But recent work with mouse models of those conditions suggests, remarkably, that some cognitive and behavioral symptoms may be reversible.”
For Rett syndrome, Monica Coenraads traces the realization that developmental disorders do not necessarily mean a lifetime of disability, to a paper published almost exactly ﬁve years ago, in the Feb. 8, 2007, issue of Science. In that paper, researchers reported that when they replaced the mutated MeCP2 protein with a normal one in adult mice with full-blown Rett syndrome – animals whose life expectancy without medical intervention could be measured in days – the mice could be rescued, and many of their symptoms reversed.