Research Focus
In autism spectrum disorder, genetic variations shape synaptic connections and neurodevelopmental processes. CHD8, SHANK3, and SCN2A genes are among the important genetic markers that increase the risk of autism. In addition, CYP450 (CYP2D6, CYP2C9, CYP2C19, CYP1A2, CYP3A4) genetic variants play a major role in the metabolism of antipsychotic and anticonvulsant drugs used in the treatment of autism.
The Autism Working Group, which operates within the Center for Personalized Treatment (KİMER), continues to work with an innovative vision aiming to analyze the genetic and pharmacogenetic basis of Autism. This group focuses on the following goals with the aim of developing individualized treatment strategies:
Goals of the Working Group:
- Pharmacogenetic Perspective: To examine the impact of genetic factors that determine individual response to drugs used in the treatment of autism.
- Genetic Predisposition: To investigate the interaction of genetic variants that predispose to autism and create models that can provide risk prediction.
- Clinical Applications: To develop genetic-based personalized treatment panels that can be used in the treatment of autism.
These focal points have both scientific and clinical potential for the individualized treatment of Autism. By integrating genetic data into clinical practice, the working group aims to develop strategies that optimize each individual's response to treatment.