Next Generation Sequencing Approaches to Childhood Neurological Diseases. Homo sapiens

The goal of this study is to identify genes responsible for human neurological disorders, including mental retardation, epilepsy, autism, focal cortical dysplasias, hemimegalencephaly, and developmental brain defects. In each instance, there are families with each of these conditions that are appropriate for genetic studies. With the aid of the Human Genome Project, whose goal was to sequence the entire human genome, it is possible to identify human disease genes. Once responsible genes are identified, this information can be used to provide medical diagnosis and possibly prevention and better treatment for each of these categories of diseases.