Description
This half course unit will focus on the use of genetics to understand the causes, mechanisms and treatment of a variety of neurodegenerative diseases. The course presumes only a limited knowledge of genetics and begins with basic genetic principles leading up to more advanced next generation genetic methodologies.It will cover our current understanding of the role genetics plays in our understanding of various neurodegenerative diseases, how this has helped understand the causes of these diseases, generate cell and animal models to study disease mechanisms and develop new therapeutic strategies.
Subjects covered include: basic genetics, genetic heterogeneity, molecular basis of disease, patterns of inheritance and mutation detection including linkage analysis, GWAS and exome sequencing.
The aetiology and disease mechanisms of Parkinson's, Alzheimer's, Motor Neuron Disease, Prion disease, Mitochondrial DNA diseases and Huntington's and CAG repeat diseases will be explored. Various general themes will also be developed including: the role of genetic models to study the diseases, the importance of protein aggregation and mitochondrial pathology.The use of familial cohorts of patients to identify the prodromal features of the disease and identify homogenous populations for limited therapeutic trials.
This course aims to equip the students with an in depth understanding of:
1. the clinical, pathological and molecular basis of a variety of important neurodegenerative diseases.
2. an understanding of the common mechanisms involved with these diseases including; the role of protein aggregation, protein degradation pathways, mitochondrial dysfunction and free radical damage
3. the role genetics plays in understanding their causes with coverage of basic and more advanced aspects of molecular genetics
4. the models used to study their mechanisms and the evaluation of disease progression and development of therapeutic interventions.
With the use of Journal Clubs students will present important research papers for discussion and write both summaries of selected papers and an in depth critical evaluation of a second paper. This will help develop the analytical skills to evaluate current research papers.
Having a general biochemical and cell biology background is important, and ideally a basic understanding of genetics and a general understanding of the nervous system would also be an advantage.
Module deliveries for 2024/25 academic year
Last updated
This module description was last updated on 19th August 2024.
Ìý