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

Abou-Sleiman PM
(2006)
Genetic association studies of complex neurological diseases.
in Journal of neurology, neurosurgery, and psychiatry

Al-Chalabi A
(2009)
Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.
in PloS one

Cavalleri GL
(2007)
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
in Epilepsia

Cavalleri GL
(2007)
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.
in The Lancet. Neurology

Devine MJ
(2011)
Parkinson's disease and cancer: two wars, one front.
in Nature reviews. Cancer

Healy DG
(2008)
Test for LRRK2 mutations in patients with Parkinson's disease.
in Practical neurology

Healy DG
(2006)
NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approach.
in Movement disorders : official journal of the Movement Disorder Society

Heinzen EL
(2007)
Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease.
in Genome biology

Heinzen EL
(2007)
Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.
in American journal of human genetics

Hithersay R
(2019)
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.
in JAMA neurology
Description | Clinical Research Fellowship |
Amount | £129,110 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 07/2011 |
End | 07/2013 |
Description | Equipment Grant |
Amount | £339,000 (GBP) |
Organisation | National Institute for Health Research |
Sector | Public |
Country | United Kingdom |
Start | 06/2011 |
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 | 03/2008 |
End | 03/2011 |
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 | Project Grant |
Amount | £292,590 (GBP) |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 03/2009 |
End | 10/2011 |
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 |