Population genetic analyses of neuronal disease

Lead Research Organisation: University College London
Department Name: Cell and Developmental Biology

Abstract

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.

Technical Summary

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.

Publications

10 25 50
 
Description Clinical Research Fellowship
Amount £129,110 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 08/2011 
End 07/2013
 
Description Equipment Grant
Amount £339,000 (GBP)
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start 07/2011 
End 06/2012
 
Description Infrastructure Award
Amount £661,636 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2011 
End 12/2015
 
Description Investigator Award
Amount £45,000 (GBP)
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start 04/2008 
End 03/2011
 
Description Project Grant
Amount £292,590 (GBP)
Organisation Parkinson's UK 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2009 
End 10/2011
 
Description Project Grant
Amount £315,000 (GBP)
Organisation Parkinson's UK 
Sector Charity/Non Profit
Country United Kingdom
Start 12/2011 
End 11/2013
 
Description WTCCC2- Epilepsy
Amount £1,300,000 (GBP)
Organisation Innovate UK 
Sector Public
Country United Kingdom
Start 01/2008 
End 01/2011
 
Description WTCCC2- Parkinson's disease
Amount £1,300,000 (GBP)
Organisation Leukaemia and Lymphoma Research 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2008 
End 01/2011
 
Description Wellcome Trust Case-Control consortium 
Organisation Cardiff University
Department Division of Psychological Medicine and Clinical Neurosciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Contributed well characterised clinical cases and DNA samples for large scale genetic studies
Collaborator Contribution Input of ideas/expertise to enable successful grant applications and publicationsClinical samples and cognitive data in PD patientsHomozygosity analysis in PD and preliminary analysis of age at onset and cognitive phenotypes in PDInput of ideas/expertise to enable successful grant applications and publications
Impact Puclications which have been listed.
Start Year 2008
 
Description Wellcome Trust Case-Control consortium 
Organisation Newcastle University
Department Mitochondrial Research Group
Country United Kingdom 
Sector Academic/University 
PI Contribution Contributed well characterised clinical cases and DNA samples for large scale genetic studies
Collaborator Contribution Input of ideas/expertise to enable successful grant applications and publicationsClinical samples and cognitive data in PD patientsHomozygosity analysis in PD and preliminary analysis of age at onset and cognitive phenotypes in PDInput of ideas/expertise to enable successful grant applications and publications
Impact Puclications which have been listed.
Start Year 2008
 
Description Wellcome Trust Case-Control consortium 
Organisation University of Birmingham
Department College of Medical and Dental Sciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Contributed well characterised clinical cases and DNA samples for large scale genetic studies
Collaborator Contribution Input of ideas/expertise to enable successful grant applications and publicationsClinical samples and cognitive data in PD patientsHomozygosity analysis in PD and preliminary analysis of age at onset and cognitive phenotypes in PDInput of ideas/expertise to enable successful grant applications and publications
Impact Puclications which have been listed.
Start Year 2008
 
Description Wellcome Trust Case-Control consortium 
Organisation University of Cambridge
Department Department of Clinical Neurosciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Contributed well characterised clinical cases and DNA samples for large scale genetic studies
Collaborator Contribution Input of ideas/expertise to enable successful grant applications and publicationsClinical samples and cognitive data in PD patientsHomozygosity analysis in PD and preliminary analysis of age at onset and cognitive phenotypes in PDInput of ideas/expertise to enable successful grant applications and publications
Impact Puclications which have been listed.
Start Year 2008