✍️ Author: Dr Eleni Christoforidou
🕒 Approximate reading time: 4 minutes
Genotyping, the process of determining an organism's genetic variants, has been pivotal in unveiling the genetic basis of neurological disorders like amyotrophic lateral sclerosis (ALS). This blog post will delve into the importance of genotyping in the field of neuroscience and how it informs our understanding of neurodegenerative diseases.
Genotyping involves the use of molecular biology techniques to determine an individual's specific sequence of genes or genetic markers. Common genotyping techniques include Polymerase Chain Reaction (PCR), DNA sequencing, and microarray-based methods. The specific technique chosen largely depends on the type of genetic variant (such as single-nucleotide polymorphisms or copy number variations) that researchers are interested in.
Genotyping has several applications in neuroscience research:
Understanding Genetic Basis of Diseases: Many neurological disorders, such as ALS, Parkinson's, and Alzheimer's, have a genetic component. Genotyping can help identify the specific genes and genetic variants associated with these diseases.
Predicting Disease Risk: Some genetic variants can increase an individual's risk of developing certain neurological disorders. By identifying these risk variants through genotyping, we can predict disease risk more accurately.
Personalised Medicine: Understanding an individual's genetic makeup can help inform treatment decisions, such as predicting their response to specific drugs, a concept known as personalised or precision medicine.
In the context of neurodegenerative diseases, genotyping has been instrumental in:
Identifying Disease-Causing Mutations: Several neurodegenerative diseases are associated with specific genetic mutations. For example, mutations in the SOD1 gene were the first to be linked to ALS.
Disease Modelling: Genotyping is essential in creating animal models of neurodegenerative diseases. Researchers can engineer animals to carry disease-causing mutations and then study the disease progression and potential treatments in these models.
Screening and Diagnostic Purposes: Genotyping can be used to identify carriers of disease-causing mutations, particularly in families with a history of a specific neurodegenerative disease. This can help in early diagnosis and intervention.
Genotyping serves as a critical tool in neuroscience, enhancing our understanding of the genetic underpinnings of neurological disorders. It is a powerful technique that holds promise for the development of novel diagnostic tools and treatments tailored to an individual's genetic profile, pushing us towards a future of personalised medicine in neurology.