Joana Carvalho, PhD, managing science editor —

Understanding protein alterations during the early phases of neuronal development may open the door to the development of new biomarkers and therapeutic strategies for Rett syndrome, a study says. The finding, “Quantitative proteomic alterations of human iPSC-based neuronal development indicate early onset of Rett syndrome,” was published in…

Genetic screening for mosaic mutations — those present in only some cells in the body — may be useful to understand disease development and severity in patients with Rett syndrome and other rare genetic disorders, a case report study says. The study, “De novo mosaic MECP2 mutation in a…

Proteomic analysis — the characterization of all the proteins present in a cell at a given time — has revealed that a misregulation in the development of neural progenitor cells (NPCs), which eventually give rise to different types of nerve cells, might be implicated in Rett syndrome.

Researchers from the Maastricht University in the Netherlands have suggested a series of adaptations to help with the assessment of eye movements in patients with Rett syndrome. Their study, “Challenges in evaluating the oculomotor function in individuals with Rett syndrome using electronystagmography,” was published in the European…