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.

Leonard Wolfson Experimental Neurology Centre (LWENC)

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


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).

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...


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...

Rohan de Silva


rds pic

Born in Sri Lanka, Rohan obtained his degree in Biochemistry in 1987 (Universität Bern, Switzerland) and a D.Phil. in Molecular Biology, 1991 (Oxford University).  From 1991-1995 he worked at Duke University Medical Center, North Carolina (genetics of Alzheimer’s Disease), where he was involved with the first identification of mutations in the presenilin-1 gene and, in collaboration with the late Dr Tsunao Saitoh (UCSD) first identified promoter variants of the alpha-synuclein gene (SNCA) that are now associated with Parkinson’s disease risk. In 1995-1996, he briefly worked at the Marie Curie Research Institute in Oxted, Surrey (genetics of bladder cancer) and 1996-1999 at Imperial College School of Medicine (investigation of role of cytokines in amyloid precursor protein gene expression and splicing). Since 1999 he has been at the RLWI  where he has been working on the genetics, biochemistry and cell biology of Parkinson’s disease, progressive supranuclear palsy and related disorders. His primary interests are the investigation of the tau (MAPT) and SNCA genes and their roles in neurodegeneration.


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Page last modified on 20 mar 13 16:45