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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.

Clinical Studies Group

Parkinsonism is a descriptive term that includes Parkinson’s disease and other disorders that have similar symptoms. The commonest features of these conditions include abnormal stiffness, slowness of movement or shakiness.  These outward changes are caused by the progressive loss of function and eventual death of certain key nerve cells within the brain.

One aim of our study is to understand as much as possible about what causes these nerve cells to die prematurely in people with parkinsonism. It is thought likely that both agents in the environment and genetic factors play a role in this process, but to varying degrees in individual cases. Several changes in the genes that influence the risk of developing parkinsonism have already been discovered during previous studies; it is likely, however, that there are many more which remain to be found. By looking at the genetic material (also called DNA) of people with parkinsonism and comparing it with that of people who do not have parkinsonism, we hope to identify new, unknown changes in the genes that increase the risk of developing this problem. From participants who carry such changes in their genes, we will seek to collect urine, blood and skin cells to study how they affect the normal workings of living cells in order to cause parkinsonism.

At present, we do not have a reliable way of identifying individuals who are at the very earliest stage in the disease. This would be important because if we develop medicines that slow down or maybe halt the progression of Parkinson’s disease, it is at this stage of the disease that they will be most beneficial. Another aim of this project is thus to study individuals, who we know are at higher risk of parkinsonism because they carry a change in their genes which is known to predispose to the condition, closely over a period of time in order to capture the very earliest stage of the condition.

The overall goal is to improve medical knowledge and understanding of Parkinson’s disease. It is hoped that scientific research into this disorder will ultimately help us to design a medicine that can slow down or stop the progress of the disease.

We would be interested to hear from any individuals with Parkinson’s disease who have a family history of the disorder as we are currently recruiting for research studies. Please contact Dr Una-Marie Sheerin here.

An increased prevalence of Parkinson's disease amongst sufferers and carriers of Gaucher disease has been confirmed by recent studies. The current project also aims to understand why Gaucher disease patients and carriers have an increased chance of Parkinson's disease. To do this we will assess a large group of people with Gaucher disease and carriers for signs of early Parkinson's disease. If you would like to take part please contact Dr Alisdair McNeill here.

Page last modified on 31 jan 11 17:52