Rare genetic disorders

This project focuses on neurophysiological abnormalities in rare genetic and genomic syndromes. Recent progress in understanding genetic underpinnings of some of these syndromes helped to create their animal models. One such disorder is the Rett Syndrome (RTT) –– a neurodevelopmental disorder caused by mutation in the MECP2 gene that regulates DNA transcription and affects neuronal communication. MECP2 deletions in rodents recapitulate many symptoms observed in patients with RTT. These animal models provide opportunities to study molecular and neurophysiological underpinnings of RTT and facilitate the advance of novel therapeutics for patients with this disorder, as well as for patients with autism, some of whom share atypical biology with RTT (Nelson, 2015). Brain electrical activity can be recorded both in humans and rodents and may serve as an intermediate phenotype that facilitates translation of the results of animal research to clinical practice. In our MEG Center we plan to establish a consortium for EEG/MEG research in patients with RTT. We hope that the EEG/ERP characteristics would serve as non-invasive biomarkers for specific neurophysiological dysfunctions and would be further used as assessment tools in clinical trials in patients with RTT and related neurodevelopmental disorders. 

This study is performed in collaboration with Dr. John Foxe and Dr. Sophie Molholm, Albert Einstein College of Medicine

Photo: The first girl with Rett Syndrome 
whose brain activity has been registered 
with MEG in our Moscow MEG-Center 
in a pilot study.