The Neurological and Genetic Diseases Association was established to support the diagnosis, treatment and scientific research of neurological diseases of genetic origin in childhood. Thanks to the advances in genetic diagnosis methods in the last 10 years, we realise that more and more children have genetic diseases.

Diseases of genetic origin involve many organ systems but frequently cause neurological symptoms. The most common symptoms are developmental delay, cognitive retardation, autism and epilepsy. The term neurogenetics is used for neurological diseases of genetic origin.

The effects of neurogenetic disorders on the development of the child begin in the womb. State-of-the-art genetic tests using amniocentesis or maternal blood can detect some diseases. (For example, Down Syndrome.) Considering the existence of thousands of neurogenetic diseases, tests performed before the child is born are often insufficient. After birth, it is important to perform detailed genetic tests to reach a diagnosis in the presence of motor development retardation, delay in head circumference growth, delay in walking, delay in speech and accompanying autism, epilepsy. At this point, Neurogender aims to increase the awareness of families on this issue and to carry out studies to offer possible treatment options after diagnosis.

The discovery of genetic treatments for SMA disease, which is frequently discussed in our country, has led to a transformation in the field of genetic therapy. For this reason, the genetic treatment platform established to find genetic treatments for children with RETT and DRAVET Syndrome, which are prioritised, is supported by our association.