| Popis: |
Neurodevelopmental disorders (NDDs) are a heterogeneous group of childhood-onset conditions caused by disrupted brain development, leading to developmental impairments such as autism spectrum disorder (ASD) and intellectual disability (ID). Various genetic conditions are associated with NDDs, including Rett syndrome (RTT), tuberous sclerosis complex (TSC), and fragile X syndrome (FXS). Increased biological understanding of such disorders has improved our knowledge of circuit dysfunction shared by NDDs, in addition to resulting in clinical trials targeting cognition and behavior. In this chapter, we will discuss strategies for translational medicine in the field of NDDs. We will explore challenges in translating animal model data to human interventional trials. We will highlight as examples RTT, TSC, and FXS, where the discovery of gene function and investigation of animal models have led to hypothesis testing in patients and potential future targeted treatments. From these three examples, we will provide overarching observations about the promises and pitfalls of translational neuroscience for NDDs as a whole. |
