Track 32: Neurogenetics

SUBTOPIC; Genetic Basis of Neurological Disorders, Genetic Mechanisms in Neurogenetics, Genetic Testing and Diagnosis,Gene Therapy and Future Directions, Challenges and Ethical Considerations, 

Neurogenetics

Neurogenetics is a branch of genetics that focuses on understanding the genetic basis of neurological and psychiatric disorders. It explores how genes influence the development, structure, and function of the nervous system, as well as how genetic mutations can lead to various brain diseases and conditions. Neurogenetics combines molecular biology, genetics, neurobiology, and neuroscience to uncover how specific genes and their mutations affect the brain and behavior.

·  Alzheimer’s Disease: Mutations in genes like APP (Amyloid precursor protein), PSEN1, and PSEN2 are associated with familial Alzheimer’s disease. The APOE ε4 allele is a common genetic risk factor for late-onset Alzheimer’s disease.

·  Parkinson’s Disease: Mutations in genes like LRRK2, SNCA, and PARK2 are linked to the development of Parkinson's disease.

·  Huntington's Disease: Caused by an expanded trinucleotide repeat in the HTT gene, leading to the production of an abnormal protein that damages neurons, particularly in the basal ganglia.

·  Amyotrophic Lateral Sclerosis (ALS): Several genetic mutations, including those in the SOD1, C9orf72, and TARDBP genes, are associated with familial forms of ALS.·  Many neurological conditions are influenced by multiple genetic variations, each contributing a small amount to the overall risk of developing the condition. This is seen in conditions like schizophrenia, bipolar disorder, and major depressive disorder.

·  Advances in Genome-Wide Association Studies (GWAS) have identified hundreds of common genetic variants that contribute to psychiatric disorders, though these individual variants have relatively small effects

This technique is used to detect copy number variations (CNVs), such as duplications or deletions of chromosomal regions, which can cause neurological disorders like autism and intellectual disabilities.

Gene replacement therapy aims to replace a defective gene with a functional one. This approach has been investigated in conditions such as Spinal Muscular Atrophy (SMA), where a defective SMN1 gene is replaced with a functional copy to improve motor function.