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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders. More...

Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
More...

Five new Parkinson's genes identified

4 February 2011

Parkinson’s Disease (PD) is a common neurodegenerative disease, affecting >2% of people over the age of 75 years. Most individuals develop the disorder in their 60’s and 70’s. In the last decade it has become clear that there is a substantial genetic component to the disorder. 

Rare families have been identified across the world in whom PD is a result of a mutation in a single gene that leads to developing the disease. These families often have multiple affected individuals with PD.  Collectively, such families account for only about 5% of people diagnosed with Parkinson’s, but can tell us a great deal about how PD develops.

Most individuals with PD do not have a genetic mutation of this type, although it is believed they have an inherited susceptibility to the disease. Susceptibility (or risk) of developing PD is also thought to be genetically determined, but is likely to be due to a large number of changes across multiple genes each exerting a weak effect. This risk then possibly interacts with environmental factors to determine the overall probability of developing Parkinson’s disease.

There have been several studies, called genome-wide association studies, published in the last few years, designed to look at genetic differences between individuals with PD and those without. Genome-wide association studies have already identified changes in 6 genes that increase an individual’s risk of developing PD.

Figure showing association results, by chromosome. Higher peaks represent stronger associations with disease.


In this recent paper, published in the Lancet, Parkinson’s disease researchers from 6 different countries, led by the team at the Institute of Neurology, Professor Nick Wood, Department of Molecular Neuroscience, pooled 5 genome-wide association studies in which more than 5,000 individuals with PD were studied and compared with 12,000 healthy individuals. The results were then analyzed collectively, confirming the role of the 6 genes previously identified, as well as revealing a further 5 new genes likely to be important in the development of Parkinson’s Disease.

The authors of this paper now intend to study these genes in greater detail to  determine how changes in these genes influence the development of PD.

Coverage in the Telegraph

Coverage on BBC News

Reference:

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies, The Lancet, Early Online Publication, 2 February 2011 doi:10.1016/S0140-6736(10)62345-8

Page last modified on 04 feb 11 10:52