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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.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

John Hardy

(Principal Investigator)

John Hardy


My research interests are in the genetic analysis of disease. Historically, we have worked on the genetic analysis of Alzheimer's disease and other dementias. More recently, we have worked on Parkinson's disease and other movement disorders and, most recently on motor neuron disease. Our early studies were on mendelian forms of disease and these studies continue, but an increasing focus has been on the genetic analysis of complex traits related to disease. Additionally, this latter analysis has made us increasingly interested in population genetics because the risk variants for human traits are likely to be different in different racial groups. In all cases our intention is to develop an understanding of the underlying genetics of a disorder so we can work with those making cellular and animal models of the disease to help, both in the unerstanding of disease mechanisms and to help in the search for treatements. In this regard, we therefore have three types of collaborations: collaborations with clinicians who treat patients with disease, especially colleagues at the Institute of Neurology, but also elsewhere, collaborations with other geneticists to collaboratively analyse such patient material, and collaborations with cell biologists and transgenic mice people to eneble them to build good models of disease.

John Hardy is the Head of the Department of Molecular Neuroscience and Chair of Molecular Biology of Neurological Disease at the UCL Institute of Neurology. Prof Hardy is the most cited Alzheimer's disease researcher in the UK (5th internationally). In recognition of his exceptional contributions to science, he was elected a Fellow of the Royal Society in 2009.

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Page last modified on 21 mar 13 16:31