Professor Hardy elected member of EMBO

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Professor John Hardy, UCL Institute of Neurology, has been elected to EMBO membership, alongside other outstanding researchers in the life sciences.

Working with Saracens to monitor concussion in rugby

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Saracens rugby

A team of researchers from the UCL Institute of Neurology have joined the ongoing Saracens study for the 2015/16 season, which combines impact sensors with blood samples to determine the effects of concussion on rugby players.

A new genetic switch uncovered in the long genes expressed in our brain

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A new mechanism for splicing-based gene regulation has been discovered in vertebrates by a team of researchers at UCL Institute of Neurology and UCL Genetics Institute, showing that sometimes cells select a piece of a gene as an exon, but then later discard this piece in the process called ‘recursive splicing’.

Professor Mary Reilly is elected to be the first female President of the Association of British Neurologists in 83 years

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Professor Mary Reilly has been elected ABN President from 2017-2019 and is President elect from 2015-2017.

Professor Reilly has been a consultant Neurologist at Queen Square since 1998 and was promoted to Professor of Clinical Neurology at UCL in 2010. She is head of the Division of Clinical Neurology and Co-Director of the MRC Centre for Neuromuscular Diseases in the Department of Molecular Neurosciences at UCL Institute of Neurology. She is internationally recognised for her expertise in research and clinical practice related to peripheral nerve diseases.

Structure of genetic messenger molecules reveals key role in diseases

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Illustration of connections across mRNA molecules, where colour indicates length

Messenger RNAs (mRNA) are linear molecules that contain instructions for producing the proteins that keep living cells functioning. A new study by UCL researchers has shown how the three-dimensional structures of mRNAs determine their stability and efficiency inside cells. This new knowledge could help to explain how seemingly minor mutations that alter mRNA structure might cause things to go wrong in neurodegenerative diseases like Alzheimer’s.

BRC awards £700,000 to neuroscience projects

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The BRC have awarded over £700,000 to three exciting clinical research projects in neuroscience.

The awards were confirmed last month for the following innovative projects:

Professor Lees receives Jay Van Andel Award for Outstanding Research in Parkinson’s Disease

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Professor Andrew Lees

The Jay Van Andel Award for Outstanding Achievement in Parkinson’s Disease Research was established to honour the memory and contributions of the Van Andel Institute’s founder.

Creating brain cells from skin to study Alzheimer's

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Dr Selina Wray

An early-career researcher at UCL Institute of Neurology has just been awarded £900,000 for a stem cell study to develop new treatments for dementia.

GCH1 gene and Parkinson’s risk

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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.

Double mutation linked to frontotemporal dementia

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Pathological structures unique to cases with C9orf72 expansion mutation

Researchers at UCL Institute of Neurology have found for the first time a double mutation in a family with frontotemporal dementia (FTD), which may further our understanding of the underlying processes involved in these diseases.

Immune system implicated in dementia development

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Diagram showing areas of the brain affected by FTD

The immune system and body’s response to damaged cells play a key role in the development of frontotemporal dementia (FTD), finds new research led by the UCL Institute of Neurology.

Vitamin B3 treatment for ataxia shows promise in first human trial

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Dr Vincenzo Libri

An essential vitamin commonly known for processing fat and proteins in the body may hold the key to slowing the progression of Friedreich’s ataxia, according to findings published today in The Lancet.

Professor Hardy awarded Thudichum Medal by Biochemical Society

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Professor John Hardy - copyright Royal Society

We are delighted to announce that Professor John Hardy, Head of Molecular Neuroscience at UCL Institute of Neurology, has been unanimously awarded the 2015 Thudichum Medal by the Biochemical Society Awards Committee

Professor Hardy awarded Dan David Prize for work on the amyloid gene encoding APP

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Professor John Hardy - copyright Royal Society

Professor John Hardy, Head of Molecular Neuroscience at UCL Institute of Neurology, has been awarded the Dan David Prize for his work on the amyloid gene encoding the amyloid precursor protein (APP).

This is a prestigious international prize which annually awards three prizes of US$ 1 million each for achievements having an outstanding scientific, technological, cultural or social impact on our world. Each year fields are chosen within the three Time Dimensions - Past, Present and Future.

NIHR award £650,000 for research into rare neurodegenerative and neuromuscular diseases

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The National Institute of Health Research (NIHR) Rare Diseases Translational Research Collaboration has awarded a total of £650,000 to extend research into rare neurodegenerative and neuromuscular diseases. 

Predicting age at onset in SCA1 : does size matter?

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Research at the UCL Institute of Neurology, led by Paola Giunti, and the MRC National Institute for Medical Research, and published in the journal PloS Genetics, has shown how the length and the nature of gene repeat expansions affects spinocerebellar ataxia type 1 (SCA1).

Riboflavin Treatment for Childhood onset Motor Neuron Disease

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A clinical and genetic study based at UCL Institute of Neurology and the Institute of Child Health, recently published in Brain, has used next generation sequencing to identify riboflavin transporter gene defects as the defective pathway in a severe form of childhood motor neuron disease. Children with these defects significantly respond to high dose riboflavin.

Different gene expression in male and female brains helps explain differences in brain disorders

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UCL scientists have shown that there are widespread differences in how genes, the basic building blocks of the human body, are expressed in men and women’s brains.

Genetic mutations linked to Parkinson's Disease

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Research led by Dr Helene Plun-Favreau (UCL Institute of Neurology) 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.

The Michael J. Fox Foundation awards grant for Exenatide research

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Following encouraging results recently published in the Journal of Clinical Investigation describing the progress of a cohort of patients treated with Exenatide for their Parkinson’s disease (PD), The Michael J. Fox Foundation for Parkinson’s Research has awarded a grant of $1.98 million to Dr. T Foltynie to pursue this avenue of research.

From Bedside to Bench in the Institute’s MRC Centre for Neuromuscular Diseases

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'Back translation' provides new insights into mitochondrial biology

Researchers working at the Institute’s MRC Centre for Neuromuscular Diseases have made a potentially important discovery relevant to understanding both mitochondrial biology and human mitochondrial neurological disease. The research is a good example of “back-translation” in which careful research observations in patients can inform knowledge about normal biology.

Gene mutation causes familial form of cranio-cervical dystonia

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Researchers from UCL’s Institute of Neurology have identified mutations in the gene ANO3 as the cause of a familial form of cranio-cervical dystonia.  Dystonia itself is a common neurological disorder which results in involuntary muscle spasms and is characterised by severe abnormal postures due to involuntary muscle spasms and affects an estimated 70,000 people in UK. Currently, there are no cures found for this disabling condition. The team of researchers, led by Professor Nick Wood and Professor Kailash Bhatia found six changes throughout the gene that might be linked to cranio-cervical dystonia, which triggers abnormal twisting or tremulous movements affecting the face, neck and arms. Of these six changes, three have shown to segregate with disease in three separate families.  The work was published in December in the American Journal of Human Genetics (Charlesworth et al., 2012). Insights into the causes of rarer, familial forms of the disease may help shed light on the cellular pathways involved in the disease as a whole.  The new ANO3 gene determines a channel that is found in the striatum, a part of the brain concerned with movement. It is hoped that an ion channel might represent a feasible target for the development of new treatments.


Hereditary Whispering Dystonia gene identified

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A genetic study at UCL Institute of Neurology has identified the gene responsible for a rare form of dystonia called ‘hereditary whispering dysphonia’ or DYT4. The study found that a mutation in the autoregulatory domain of the β-tubulin 4a gene (TUBB4a) is responsible for this disease which is known to affect a large family who emigrated to Australia from the UK in the late 19th century.

This unusual form of dystonia is characterised by a progressive limb and cervical dystonia together with a severe dysphonia which resulted in most of the affected individuals being unable to speak and who exhibited an unusual ‘hobby horse’ gait. This was first reported by the late Neville Parker in 1985 who instigated a collaboration with Anita Harding to try to identify the genetic cause of this disease in this family. Using the exome sequencing platform at ION together with a robust genetic linkage study, a team led by Prof Henry Houlden has identified the causative gene, with the results now published in the Annals of Neurology.

The mutation is located within a very small region of the TUBB4a protein that is important in auto-regulating the levels of TUBB4a mRNA. As part of previous work published in 1988 in Nature, it was shown that mutations in this region result in a loss of this autoregulatory function. This disease mechanism has not hitherto been reported and provides further insight into the pathogenesis of dystonia in general.

Repurposed cardiac sodium channel blocker brings significant benefit for patients with a rare neuromuscular disease

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An international multi-centred trial published in the leading medical journal JAMA (The Journal of the American Medical Association) this week, demonstrates a significant treatment benefit using the repurposed cardiac drug, mexiletine, in a genetically stratified cohort of patients with the rare genetic neurological disorder, non-dystrophic myotonia. Professor Michael Hanna, Director of the MRC Centre for Neuromuscular Diseases led the UCL team including MRC clinical training fellow Dr Dipa Raja Rayan as the top recruiting site in this international trial. 

Genetic study identifies treatable pathway in childhood motor neuron disease

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[broken image]

A genetic study based at UCL Institute of Neurology and the NIH in the United States has identified two riboflavin transporter genes that are defective in children with a type of motor neuron disease called Brown-Vialetto van Laere syndrome.

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