Neurogenetika

Neurogenetika, or neurogenetics, is the branch of medical genetics that studies how genetic variation influences the development, structure, and function of the nervous system, and how these variations contribute to neurological and psychiatric disorders. The field encompasses neurodevelopment, neurodegeneration, neuroimmunology, and neural plasticity. Research uses methods ranging from classic linkage and candidate-gene studies to modern high-throughput sequencing, genome-wide association studies, and functional analyses in cells and animal models. It also examines how genetic and environmental factors interact to shape nervous system traits.

Clinically, neurogenetika covers monogenic disorders such as Huntington's disease (HTT), various spinocerebellar ataxias, Rett syndrome (MECP2), Dravet syndrome (SCN1A), and others, as well as complex conditions with polygenic influences like autism spectrum disorder, intellectual disability, epilepsy, and neurodegenerative diseases including Alzheimer's disease (APP, PSEN1, PSEN2, APOE) and Parkinson's disease (LRRK2, SNCA, GBA). Genetic testing, counselling, and prenatal diagnosis play key roles. The discovery of risk variants informs diagnosis, prognosis, and potential therapeutic targets.

Technologies and models include exome and genome sequencing, gene panels, induced pluripotent stem cells, brain organoids, Drosophila and murine models, and gene-editing tools such as CRISPR-Cas. These enable functional studies, drug screening, and exploration of gene function in neural development and maintenance. In clinical practice, neurogenetics underpins precision medicine and personalized management plans.

Challenges include interpreting variants of uncertain significance, incomplete penetrance, pleiotropy, and ethical issues around incidental findings, privacy, and access to genetic therapies. Ongoing research aims to map the genetic architecture of nervous system traits, improve diagnostic yield, and translate discoveries into therapies while considering social and clinical implications.