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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.

Molecular Biology and Biochemistry Group

The research focus currently resides on unravelling the function and disease related dysregulation of the mitochondrial Parkinson’s Disease (PD) related protein kinase PINK1. Mutations in PINK1 are associated with early onset PD (EOPD) and are the second most common cause of recessive disease. In the past few years our understanding of PINK1 function has grown significantly and PINK1 has been linked to numerous cellular functions such as neuroprotection, mitochondrial fission-fusion and mitochondrial clearance through mitophagy, to name a few. Recently, though cellular and proteomic approaches Dr Deas has identified a number of novel PINK1 protein interactors and the current focus of her work is to explore the significance of these interactions with respect to disease.

A series of molecular biology and biochemical techniques are employed within the laboratory including: western blot, SDS-PAGE, Phos-tag gel analysis of phosphorylated proteins, patient DNA sequencing, cloning, protein interaction studies and kinase assays.

At present a variety of cell and animal models are utilised including human fetal ventral mesencephalon stem cells (ReNCells - which can be differentiated into dopaminergic neurons), primary patient fibroblasts and primary mouse neuronal cultures.

Molecular Biology and Biochemistry Group figure 1 Molecular Biology and Biochemistry Group figure 2 Molecular Biology and Biochemistry Group figure 3

Page last modified on 21 jan 11 10:08