Abstract

Neurogenetics is a rapidly growing interdisciplinary field that merges genetics and neuroscience to explore how genes influence the development, structure, and functioning of the nervous system. It plays a crucial role in understanding the genetic underpinnings of neurological diseases and offers novel insights into the mechanisms of brain function. By studying the interactions between genetic mutations, variations, and the nervous system, neurogenetics seeks to uncover the causes of neurological and psychiatric disorders, such as Alzheimer’s disease, Parkinson’s disease, autism spectrum disorders (ASD), schizophrenia, and epilepsy.One of the major contributions of neurogenetics is the identification of single-gene mutations responsible for rare but severe neurological conditions, such as Huntington’s disease and spinal muscular atrophy (SMA). These discoveries have not only provided a deeper understanding of the molecular mechanisms behind neurodegeneration but also paved the way for genetic testing, early diagnosis, and targeted therapeutic interventions, including the use of gene therapy. In particular, treatments like Zolgensma for SMA have showcased the transformative potential of genetic-based therapies in treating hereditary neurological disorders.Neurogenetics also sheds light on the complexity of common multifactorial disorders, which result from interactions between multiple genes and environmental factors. For instance, in Alzheimer’s disease, mutations in the APP, PSEN1, and APOE genes have been linked to the disease’s development, leading to enhanced diagnostic capabilities and better-targeted interventions.