Population genetic analyses of neuronal disease

The members of this grouping are all committed to the communication of their work to the broadest possible audience. In addition to communicating their work through the scientific press, members of the grouping also inform relevant disease-oriented societies through newsletters and lectures. Members of the group also regularly provide commentary on advances in human and medical genetics to newspapers, radio shows, and documentaries. The co-operative grouping will allow us to form a focal point for dissemination of information specifically related to neurogenetics. One of our key aims will be to accurately convey both the strengths and the limitations of what we know about how genetic variation influences health and disease. In addition, the grouping will continue and expand its efforts to advise both policy makers and ethics groups about developments in human genetics, as for example we have done in the past in pharmacogenetics and other areas.

This core application will establish a common experimental and analytic framework for a series of investigations into the genetic bases of three important neuronal diseases: Amyotrophic Lateral Sclerosis, Parkinson?s disease, and epilepsy. The focus of the application will be genetic association studies seeking to correlate gene variants in candidate genes both with disease status, and with more detailed clinical characteristics of the disease (e.g. age of onset, severity, response to treatment, and so on). The proposal unites exceptional clinical resources and a team of researchers with both clinical and genetics expertise with a proven track record of collaboration. The core will focus on statistical genetics and bioinformatics, and quality control of genotyping, while the component projects of the grouping will focus on patient recruitment and phenotyping. All members of the grouping however will interact regularly to ensure that the design and interpretation of the genetic analyses is fully informed by the pathophysiology of the relevant conditions. The grouping will establish a critical mass of researchers with similar interests and aims, which will mean that common challenges can be identified and overcome.