With Support From Simons Foundation, Rett Syndrome Study Finds Mechanisms Underlying Its Visual Deficits
In research published in the "Proceedings of the National Academy of Sciences (PNAS)," researchers at the Whitehead Institute for Biomedical Research and the Picower Institute for Learning and Memory at MassachusettsInstitute of Technology (MIT) have used precise genetic tools and sophisticated high-resolution electrophysiological measurements to track neurophysiological deficits resulting from the genetic mutation associated with Rett Syndrome (RTT).
Further, they demonstrated the ability of recombinant human Insulin Like Growth Factor 1 (rhIGF1) and bumetanide to reverse such deficits in cell-type specific manner in RTT mice – and provided further mechanistic basis for observed clinical benefits of using rhIGF1 to treat RTT patients...