Texas Children's Hospital

The Neul lab is taking a three-pronged approach to developing a treatment for Rett syndrome. The first task is clinical: developing a detailed understanding of the natural history of Rett syndrome. To provide the necessary framework for evaluating the efficacy of potential therapies during clinical trials in children, Dr. Neul is following Rett patients over time in order to map the disease course and the long-term effects of treatment.

The second line of attack is to test currently available treatments on the mouse model of Rett syndrome. If any drugs that target individual symptoms such as breathing irregularities, motor difficulties, heart abnormalities, or seizures show promise in the animal model, Dr. Neul will use this information to design clinical trials for affected children.

The third approach is to understand the molecular changes that result from the lack of a properly functioning MeCP2 protein in brain cells. By characterizing the molecular changes within the brains of animal models, Neul and his team have been able to identify alterations in specific neurotransmitter systems. The ultimate goal is to find ways to replace, or more likely, circumvent the malfunctioning MECP2 gene. This is a complicated task that will require chemical or pharmacological tools to either correct or bypass the defective gene responsible for disease development. The hope is that addressing the mutated MECP2 gene will not only alleviate the symptoms, but treat the underlying disease.