UK Parkinson's Disease Consortium - UKPDC
- Principal Investigators
- Research Groups
- Cell Physiology
- Clinical Neuroscience
- Clinical Studies
- Drosophila Genetics
- Molecular Biology and Biochemistry
- Molecular Neuropathology
- Neurological Biochemistry
- Neurological Signalling
- Protein Phosphorylation
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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 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...
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.
The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials
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).
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