Neurological and Genetic Diseases Association

Neurological and Genetic Diseases Association was established to support the diagnosis, treatment and scientific research of genetically originated neurological diseases seen in childhood. Thanks to the genetic diagnosis methods that have progressed in the last 10 years, we realize that more children have genetic diseases.

Genetic diseases involve many organ systems and often cause neurological symptoms. The most common symptoms are developmental delay, cognitive retardation, autism and epilepsy. The term neurogenetics is used for genetically originated neurological diseases.

The effects of neurogenetic disorders on the development of the child begin in the womb. Amniocentesis or the latest technological genetic tests from 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. It is important to carry out detailed genetic tests in order to reach the diagnosis in the presence of motor retardation, delay in growth of head circumference, delay in walking, delay in speech and accompanying autism and epilepsy after birth. At this point, Neurogender; It aims to carry out studies to increase the awareness of families on this issue and to offer possible treatment options after diagnosis.

The discovery of genetic treatments for SMA disease, which is frequently on the agenda in our country, has led to a transformation in the field of genetic therapy. For this reason, the genetic therapy platform created to find genetic treatments for children with RETT and DRAVET Syndrome, which is determined as a priority, is supported by our association.