UK Parkinson's Disease Consortium

You are invited to a public lecture by Francesco Cecconi, an eminent scientist in the field of autophagy and neurodegeneration, on Thursday the 25th of April at 17:00, in the lecture theatre of 33 Queen Square, University College Hospital London, WC1N. The lecture will be followed by a general discussion with drinks and food.

Have you ever wondered how scientists research the brain? Have you wondered who digs through that beautiful mass of grey matter between our ears to understand how it works and why it stops working? Meet the Neurodegenerative Diseases Initiative. Funded by the Wellcome Trust and MRC, this team of scientists from around the globe investigates Alzheimer's, Parkinson's and Motor Neuron Diseases. The team is on the hunt for understanding and treatments for brain diseases.

The "Degenerating Brains" public symposium was held on the 13th March 2013, as part of Brain Awareness Week. Around 250 people showed up to hear Professors John Hardy (UCL), Chris Shaw (KCL) and David Rubinsztein (Cambridge) discuss new discoveries in neurodegenerative diseases and how they might impact drug treatment.

New research, published in Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget’s Disease of the Bone and Frontotemporal Dementia (IBMPFD), and the motor neuron disease Amyotrophic Lateral Sclerosis (ALS).

You are invited to an evening (13th March 2013) exploring the very latest in cutting edge research into neurodegenerative diseases. Supported by the Wellcome Trust, scientists investigating Alzheimer's, Parkinson's and Motor Neuron disease will explain how our understanding of these disorders is changing in the light of new discoveries in genetics and cell biology, and how these discoveries impact on developing new drugs for these diseases.

18.00 Welcome and introduction

18.10 Lectures commence

Degenerating neurons is a blog established by UK researchers working towards understanding and developing therapies for degenerative brain diseases. Together we form the Neurodegenerative Diseases Initiative (NDI), funded by the Wellcome Trust and the Medical Research Council.

• Findings suggest immune response plays a key role in development of Alzheimer’s
• Results welcomed by Secretary of State for Health

UCL Institute of Neurology Parkinson’s Disease (PD) experts Dr Emma Deas, Dr Andrey Abramov and Professor Nicholas Wood joined forces with prominent Cambridge biophysicists Dr Nunilo Cremades, Professor David Klenerman FRS and Professor Christopher Dobson FRS to identify the pathological species of alpha-synuclein responsible for nerve cell damage during disease.

Webcast of the presentation entitled 'The genetics of LRRK2: A role in the sporadic form of Parkinson's disease' given by Nick Wood (University College London, UK), presented at the Biochemical Society Focused Meeting on LRRK2: function and dysfunction, held in March 2012.

There are several genes in which we now know that mutations cause Parkinson's disease (PD). These range from fairly frequent mutations, like those in LRRK2, to rarer ones such as those in SNCA.

One of the rare genes is ATP13A2, known to cause Kufor-Rakeb syndrome (KRS), a form of autosomal recessive hereditary parkinsonism with dementia and juvenile onset. Although little is known about the function of this gene, it is suspected to act in the lysosomal membrane, and to be responsible for the maintenance of lysosomal pH. The lysosomal pathway has, in the last few years, attracted interest as a novel mechanism involved in the pathogenesis of PD, following not only the identification of ATP13A2 mutations, but also the risk conferred by GBA mutations for the development of this disorder.

A team of researchers led by Drs. Rita Guerreiro and Jose Bras at UCL has identified mutations in ATP13A2 as a cause of a separate disease entity called Neuronal Ceroid-Lipofuscinosis (NCL) in a large family from Belgium.