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.

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...

Neurogenetics Group

Our group’s main goal is to identify genetic variability that either causes or contributes to the onset of neurodegenerative disease.

Our work relies heavily on building a large bank of tissue and DNA samples with which to work. In order to facilitate this process, we have developed a number of strong collaborative ties with the clinical teams at the National Hospital for Neurology and Neurosurgery who are instrumental in identifying potential donors. It is because of this spirit of co-operation that we have accrued one of the world’s largest neurodegenerative sample databases, that includes not only DNA, but in many cases, fibroblasts or brain tissue.

In order to elucidate the genetic architecture of these diseases, we are currently using state-of-the-art approaches, which range from genome-wide genotyping, through exome to, in select cases, whole genome sequencing. These novel technologies have opened the door to a whole new outlook on genomic variability and how it impacts on the onset and course of a disease.

We are currently using these technologies to model Parkinson’s disease as a complex disorder with a two-pronged approach: on one hand we are studying families using Sanger sequencing followed by whole-genome genotyping, linkage analysis and ultimately exome sequencing, and on the other hand we are using our extensive sample biobank to perform large scale association studies with genotype and, in the near future, sequence data.

It is expected that over the next 2-5 years technology will improve to a point where whole genome sequencing becomes feasible on large cohorts of samples. Our group is in an ideal position to make use of these innovations with great success.

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.

Page last modified on 31 jan 11 17:51