A systematic investigation into the pathogenesis and course of Parkinson's syndrome
Lead Research Organisation:
University College London
Department Name: UNLISTED
Abstract
Abstracts are not currently available in GtR for all funded research. This is normally because the abstract was not required at the time of proposal submission, but may be because it included sensitive information such as personal details.
Technical Summary
In this ambitious proposal we have assembled a group of world-leading clinical and basic science researchers possessing complementary expertise to identify and tackle the causes of Parkinsons Disease (PD). The overall goal will be a fuller understanding of the molecular pathogenesis of PD as well as improved clinical assessment of the disease prodrome. The main goals of the project are:|1. To undertake comprehensive genetic analysis of a large number of well characterised PD patients to identify rare variants and novel genes that cause and predispose to disease.|2. To perform state of the art molecular and biochemical characterisation of existing and novel PD-causing gene products and their pathways to delineate the regulation and function of these proteins.|3. To clinically dissect the prodrome of PD using a large series of at risk patients.|The consortium brings together both established PD researchers and senior researchers from other disciplines whose expertise brings new skills to this programme.||This research should yield crucial new knowledge of the molecular pathways leading to neurodegeneration and shed insight into the causation of PD|
People |
ORCID iD |
Nicholas Wood (Principal Investigator) |
Publications
Kovac S
(2015)
Nrf2 regulates ROS production by mitochondria and NADPH oxidase.
in Biochimica et biophysica acta
Kovac S
(2012)
Prolonged seizure activity impairs mitochondrial bioenergetics and induces cell death.
in Journal of cell science
Kruer MC
(2013)
Mutations in ? adducin are associated with inherited cerebral palsy.
in Annals of neurology
Kumar A
(2013)
Age-associated changes in gene expression in human brain and isolated neurons.
in Neurobiology of aging
Kun-Rodrigues C
(2015)
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
in Human molecular genetics
Kägi G
(2013)
Sensory tricks in primary cervical dystonia depend on visuotactile temporal discrimination.
in Movement disorders : official journal of the Movement Disorder Society
Lascaratos G
(2012)
Mitochondrial dysfunction in glaucoma: understanding genetic influences.
in Mitochondrion
Le Ber I
(2013)
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
in JAMA neurology
Le Ber I
(2014)
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.
in Neurobiology of aging
LeishGEN Consortium
(2013)
Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.
in Nature genetics
Lescai F
(2012)
Characterisation and validation of insertions and deletions in 173 patient exomes.
in PloS one
Lewis P
(2012)
Gene expression in the Parkinson's disease brain
in Brain Research Bulletin
Lewis PA
(2012)
LRRK2 and human disease: a complicated question or a question of complexes?
in Science signaling
Lewis PA
(2012)
Deciphering the function of leucine-rich repeat kinase 2 and targeting its dysfunction in disease.
in Biochemical Society transactions
Lewis PA
(2012)
Assaying the kinase activity of LRRK2 in vitro.
in Journal of visualized experiments : JoVE
Lewis PA
(2012)
James Parkinson: the man behind the shaking palsy.
in Journal of Parkinson's disease
Li A
(2013)
Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.
in Neuropathology and applied neurobiology
Ling H
(2014)
Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer.
in Acta neuropathologica communications
Ling H
(2013)
TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT.
in Neurobiology of aging
Ludtmann MH
(2014)
Nrf2 affects the efficiency of mitochondrial fatty acid oxidation.
in The Biochemical journal
Lynch D
(2016)
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series
in Journal of Neurology, Neurosurgery & Psychiatry
Löhle M
(2015)
Clinical prodromes of neurodegeneration in Anderson-Fabry disease.
in Neurology
Magdalinou NK
(2015)
A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes.
in Journal of neurology, neurosurgery, and psychiatry
Majounie E
(2012)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
in The Lancet. Neurology
Malek N
(2018)
Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study.
in Journal of neurology, neurosurgery, and psychiatry
Mamais A
(2013)
Divergent a-synuclein solubility and aggregation properties in G2019S LRRK2 Parkinson's disease brains with Lewy Body pathology compared to idiopathic cases.
in Neurobiology of disease
Mamais A
(2014)
Arsenite stress down-regulates phosphorylation and 14-3-3 binding of leucine-rich repeat kinase 2 (LRRK2), promoting self-association and cellular redistribution.
in The Journal of biological chemistry
Manzoni C
(2013)
Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies.
in FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Manzoni C
(2012)
LRRK2 and autophagy: a common pathway for disease.
in Biochemical Society transactions
Manzoni C
(2015)
Computational analysis of the LRRK2 interactome.
in PeerJ
Manzoni C
(2013)
Inhibition of LRRK2 kinase activity stimulates macroautophagy.
in Biochimica et biophysica acta
Manzoni C
(2013)
Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.
in Biochemical and biophysical research communications
Matsuki T
(2012)
Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice.
in PloS one
McNeill A
(2013)
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.
in PloS one
McNeill A
(2013)
Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations.
in Molecular genetics and metabolism
McNeill A
(2014)
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
in Brain : a journal of neurology
McNeill A
(2013)
Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.
in Molecular genetics and metabolism
McNeill A
(2012)
A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers.
in Journal of neurology, neurosurgery, and psychiatry
McNeill A
(2012)
Hyposmia and cognitive impairment in Gaucher disease patients and carriers.
in Movement disorders : official journal of the Movement Disorder Society
Meissner WG
(2011)
Priorities in Parkinson's disease research.
in Nature reviews. Drug discovery
Mencacci NE
(2014)
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
in Brain : a journal of neurology
Mencacci NE
(2015)
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
in Human molecular genetics
Mencacci NE
(2015)
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
in American journal of human genetics
Mok K
(2012)
Chromosome 9 ALS and FTD locus is probably derived from a single founder.
in Neurobiology of aging
Mok KY
(2014)
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
in Movement disorders : official journal of the Movement Disorder Society
Mok KY
(2016)
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.
in The Lancet. Neurology
Mullin S
(2013)
a-Synuclein and mitochondrial dysfunction in Parkinson's disease.
in Molecular neurobiology
Naj AC
(2011)
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
in Nature genetics
Nalini A
(2013)
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
in Journal of the neurological sciences
Nalls MA
(2014)
Genetic comorbidities in Parkinson's disease.
in Human molecular genetics
Description | 2008 - NIHR - Senior Investigator - nwood |
Amount | £45,000 (GBP) |
Organisation | National Institute for Health Research |
Sector | Public |
Country | United Kingdom |
Start | 04/2008 |
End | 03/2019 |
Description | 2008 - PUK - How does the PINK1 gene cause nerve cell death in Parkinson's? - aabramov |
Amount | £483,730 (GBP) |
Funding ID | F-0806 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 06/2008 |
End | 05/2013 |
Description | 2009 - NIHR - UCL/UCLH Comprehensive Biomedical Centre Capital Project - nwood |
Amount | £466,500 (GBP) |
Organisation | National Institute for Health Research |
Department | UCLH/UCL Biomedical Research Centre |
Sector | Academic/University |
Country | United Kingdom |
Start | 12/2009 |
End | 07/2011 |
Description | 2009 - PUK - Project Grant - nwood |
Amount | £292,590 (GBP) |
Funding ID | J-0804 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 03/2009 |
End | 10/2011 |
Description | 2009 - PUK - What does the PINK1 gene do in nerve cells? - dalessi |
Amount | £84,945 (GBP) |
Funding ID | H-0901 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 10/2009 |
End | 10/2013 |
Description | 2010 - BBSRC - BBSRC Industrial CASE Partnership Grant - dalessi |
Amount | £75,281 (GBP) |
Organisation | Biotechnology and Biological Sciences Research Council (BBSRC) |
Sector | Public |
Country | United Kingdom |
Start |
Description | 2010 - MJFF - Development of Selective LRRK2 Inhibitors - dalessi |
Amount | £1 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2010 - MJFF - Exploiting Ser910/935 Phosphorylation and 14-3-3 Binding to Develop Biomarkers for LRRK2 Activity - dalessi |
Amount | £1 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2010 - MJFF - Investigating Signaling Pathway Dysfunction Linked to LRRK2 - plewis |
Amount | £357,022 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start | 01/2010 |
End | 12/2011 |
Description | 2010 - PUK - Are Lewy bodies behind dopamine nerve cell death? - mcooper |
Amount | £208,751 (GBP) |
Funding ID | G-0910 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 08/2010 |
End | 07/2013 |
Description | 2010 - PUK - Career development award - plewis |
Amount | £250,000 (GBP) |
Funding ID | F-1002 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 10/2010 |
End | 09/2013 |
Description | 2010 - PUK - How does Parkinson's spread throughout the brain? - trevesz |
Amount | £319,334 (GBP) |
Funding ID | G-1004 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 11/2010 |
End | 10/2013 |
Description | 2011 - AMS - Starter Grants for Clinical Lecturers - sgandhi |
Amount | £30,000 (GBP) |
Organisation | Academy of Medical Sciences (AMS) |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 10/2011 |
End | 09/2013 |
Description | 2011 - MJFF - Analysis of LRRK2 Antibodies - dalessi |
Amount | £1 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2011 - MJFF - Generation of Monoclonal and Polyclonal Antibodies against LRRK1 - dalessi |
Amount | £1 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2011 - MJFF - Investigating Signaling Pathway Dysfunction Linked to LRRK2 - plewis |
Amount | £1 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2011 - MRC - Clinical Research Fellowship - amcneill |
Amount | £129,110 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 08/2011 |
End | 07/2013 |
Description | 2011 - MRC - Clinical Research Training Fellowship - usheerin |
Amount | £129,112 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 07/2011 |
End | 05/2013 |
Description | 2011 - NIHR - Equipment Grant - nwood |
Amount | £339,000 (GBP) |
Organisation | National Institute for Health Research |
Sector | Public |
Country | United Kingdom |
Start | 07/2011 |
End | 06/2012 |
Description | 2011 - PUK - Can a diabetes drug also help people with Parkinson's? - mduchen |
Amount | £106,835 (GBP) |
Funding ID | G-1101 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 08/2011 |
End | 07/2013 |
Description | 2011 - PUK - Career development award - lalvarez |
Amount | £248,629 (GBP) |
Funding ID | F-1101 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 09/2011 |
Description | 2011 - PUK - Filling the genetic gaps in Parkinson's - nwood |
Amount | £315,000 (GBP) |
Funding ID | G-1107 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 12/2011 |
End | 11/2013 |
Description | 2011 - PUK - PhD Studentship |
Amount | £90,580 (GBP) |
Funding ID | H-1006 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 02/2011 |
End | 01/2014 |
Description | 2011 - PUK - Should we treat Parkinson's earlier? - kbhatia |
Amount | £109,794 (GBP) |
Funding ID | G-1009 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 04/2011 |
End | 03/2013 |
Description | 2011 - PUK - Understanding the role of the Fbxo7 gene in Parkinson's - dalessi |
Amount | £145,600 (GBP) |
Funding ID | H-1101 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 10/2011 |
End | 09/2014 |
Description | 2011 - PUK - What is the link between Gaucher's disease and Parkinson's? - aschapira |
Amount | £333,229 (GBP) |
Funding ID | G-1104 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 07/2011 |
End | 06/2012 |
Description | 2011 - WT - Equipment Grant - nwood |
Amount | £661,636 (GBP) |
Organisation | Wellcome Trust |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 01/2011 |
End | 12/2015 |
Description | 2012 - BSF - A Role For De Novo Mutations In Parkinson's Disease - jbras |
Amount | £40,545 (GBP) |
Organisation | Bachmann-Strauss Dystonia & Parkinson Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2012 - ERC - ERC Starting Grant - awhitworth |
Amount | £1,268,396 (GBP) |
Organisation | European Research Council (ERC) |
Sector | Public |
Country | Belgium |
Start |
Description | 2012 - MJFF - Characterizing Region Specific Splice Isoforms of LRRK2 - jhardy |
Amount | £1 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2012 - MJFF - Combining Mass Spectrometry with Genetic and Pharmacological Approaches to Discover and Validate LRRK2 Substrates - nwood |
Amount | £37,000 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start | 06/2012 |
End | 06/2014 |
Description | 2012 - MJFF - Development of an HTS Assay to Break the Alpha-Synuclein-Glucocerebrosidase Feedback Loop - aschapira |
Amount | £1 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2012 - MJFF - Generation of Phospho-Ser65 Parkin and Phospho-Thr257 PINK1 Pre-clinical Monoclonal Antibodies and Characterization of Total PINK1 Pre-clinical Monoclonal Antibodies - mmuqit |
Amount | £1 (GBP) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start |
Description | 2012 - PUK - A new fruit fly model of Parkinson's - awhitworth |
Amount | £118,380 (GBP) |
Funding ID | G-1201 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 05/2012 |
End | 04/2014 |
Description | 2012 - PUK - Fat: a new source of stem cells for Parkinson's? - jtaanman |
Amount | £15,500 (GBP) |
Funding ID | K-1201 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 05/2012 |
End | 04/2013 |
Description | 2012 - PUK - How does alpha-synuclein move from cell to cell? - mcooper |
Amount | £34,904 (GBP) |
Funding ID | K-1202 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 06/2012 |
End | 05/2013 |
Description | 2012 - PUK - Looking for genes linked with dementia with Lewy bodies - jbras |
Amount | £35,000 (GBP) |
Funding ID | K-1204 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 05/2012 |
End | 04/2013 |
Description | 2013 - JPND - Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease - nwood |
Amount | £714,181 (GBP) |
Funding ID | MR/L501554/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start |
Description | 2013 - MRC - Centenary Award - usheerin |
Amount | £45,000 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 05/2013 |
End | 01/2014 |
Description | 2013 - NIHR - BRC for NIHR Rare Diseases Translational Research Collaboration: Autosomal Dominant Parkinson's disease - nwood |
Amount | £200,000 (GBP) |
Organisation | National Institute for Health Research |
Sector | Public |
Country | United Kingdom |
Start |
Description | 2013 - PUK - How is the tau gene involved in Parkinson's? - rdesilva |
Amount | £34,957 (GBP) |
Funding ID | K-1212 |
Organisation | Parkinson's UK |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 01/2013 |
End | 08/2013 |
Description | 2013 - Wolfson - LWENC |
Amount | £20,000,000 (GBP) |
Organisation | The Wolfson Foundation |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 01/2013 |
End | 01/2018 |
Description | 2014 - AS - Postdoctoral Research Fellowship - jbras |
Amount | £349,994 (GBP) |
Funding ID | 200 |
Organisation | Alzheimer's Society |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 06/2014 |
End | 05/2017 |
Description | 2014 - JPND - PERADES: Defining Genetic, Polygenic and Environmental Risk for Alzheimer's Disease using multiple powerful cohorts, focussed epigenetics and Stem cell metabolomics - jwilliams |
Amount | £180,526 (GBP) |
Organisation | JPND Research |
Sector | Academic/University |
Country | Global |
Start |
Description | 2014 - JPND - Risk and Modifying factors in Fronto-Temporal Dementia - jhardy |
Amount | £576,979 (GBP) |
Funding ID | MR/L501542/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start |
Title | Copy number variation database |
Description | Database of patients with copy number variation |
Type Of Material | Improvements to research infrastructure |
Year Produced | 2010 |
Provided To Others? | Yes |
Impact | Not yet |
Title | Healthy exomes database |
Description | Database of benign genetic variability, used for filtering in exome sequencing experiments. |
Type Of Material | Improvements to research infrastructure |
Year Produced | 2013 |
Provided To Others? | Yes |
Impact | Application in research. |
Title | LRRK2 inhibitors |
Description | Dario Alessi. In collaboration developed improved highly selective LRRK2 inhibitors. Elaboration of the first brain penetrable inhibitor (HG-10-102-01) that can be administered to mice by IP injection or oral gavage that effectively suppress LRRK2 in brain (Choi et al. 2012). Helped in the characterisation of by far the most selective LRRK2 inhibitor described to date (GSK2578215A) that only targets LRRK2 out of ~400 other protein kinases evaluated (Reith et al. 2012). |
Type Of Material | Technology assay or reagent |
Year Produced | 2012 |
Provided To Others? | Yes |
Impact | For each of these inhibitors we have generated large supplies and have distributed these freely to the scientific community with no strings attached. |
Title | Transgenic lines |
Description | Alex Whitworth. New transgenic lines to model recently described PD genes, including; GBA (WT, N370S, L444P) and Vps35 (WT, R524W, D620N, L774M). |
Type Of Material | Cell line |
Year Produced | 2010 |
Provided To Others? | Yes |
Impact | Alex Whitworth. New transgenic lines to model recently described PD genes, including; GBA (WT, N370S, L444P) and Vps35 (WT, R524W, D620N, L774M). |
Title | Research data capture |
Description | Database framework for recruitment and for entering study data via electronic forms, including directly from participants, |
Type Of Material | Database/Collection of data |
Year Produced | 2012 |
Provided To Others? | Yes |
Impact | Consolidation of research studies, common data model deployed across internal and external groups, improved data capture and study management, use UCLH hospital setting. |
Title | Research database |
Description | Database for managing clinical and research datasets linked to samples. |
Type Of Material | Database/Collection of data |
Year Produced | 2010 |
Provided To Others? | Yes |
Impact | Improved selection and linking, better characterised cohorts, sample conservation, less overlap and more sharing and reuse of data. |
Title | Sample management database |
Description | Database for tracking the storage and processing of research samples. |
Type Of Material | Database/Collection of data |
Year Produced | 2010 |
Provided To Others? | Yes |
Impact | Improved sample management, tracking, conservation, and control. |
Title | Variant database |
Description | Database of genetic variants. |
Type Of Material | Database/Collection of data |
Year Produced | 2015 |
Provided To Others? | Yes |
Impact | Lookup and validation of genetic variants across cases and research groups. |
Description | GlaxoSmithKline (GSK) |
Organisation | GlaxoSmithKline (GSK) |
Country | Global |
Sector | Private |
PI Contribution | MRI scanning of LRRK2 mutation carriers. Development of improved highly selective LRRK2 inhibitors. Helped characterise the most selective LRRK2 inhibitor described to date. |
Collaborator Contribution | MRI scanning of LRRK2 mutation carriers. Development of improved highly selective LRRK2 inhibitors. Helped characterise the most selective LRRK2 inhibitor described to date. |
Impact | MRI scanning of LRRK2 mutation carriers. Development of improved highly selective LRRK2 inhibitors. Helped characterise the most selective LRRK2 inhibitor described to date. |
Start Year | 2011 |
Description | International Parkinson's disease consortium |
Organisation | Eberhard Karls University of Tübingen |
Department | Neurogenetics |
Country | Germany |
Sector | Academic/University |
PI Contribution | Principal UK contributor |
Collaborator Contribution | Building international consortium |
Impact | Publication in Nature genetics and Hum Mol genetics and a further recent submission |
Start Year | 2009 |
Description | International Parkinson's disease consortium |
Organisation | National Institutes of Health (NIH) |
Department | National Institute on Aging |
Country | United States |
Sector | Public |
PI Contribution | Principal UK contributor |
Collaborator Contribution | Building international consortium |
Impact | Publication in Nature genetics and Hum Mol genetics and a further recent submission |
Start Year | 2009 |
Description | Janssen Pharmaceutica |
Organisation | Johnson & Johnson |
Department | Janssen Pharmaceuticals |
Country | United States |
Sector | Private |
PI Contribution | Helped Janssen Pharmaceutica develop an ELISA-based assay to readily assess the impact of LRRK2 inhibitors on cells and tissues by monitoring the impact that these have on LRRK2 phosphorylation of Ser910 and Ser935 (Delbroek et al. 2013) using highly selective monoclonal antibodies we developed against these residues (Dzamko et al. 2012). |
Collaborator Contribution | Helped Janssen Pharmaceutica develop an ELISA-based assay to readily assess the impact of LRRK2 inhibitors on cells and tissues by monitoring the impact that these have on LRRK2 phosphorylation of Ser910 and Ser935 (Delbroek et al. 2013) using highly selective monoclonal antibodies we developed against these residues (Dzamko et al. 2012). |
Impact | Helped Janssen Pharmaceutica develop an ELISA-based assay to readily assess the impact of LRRK2 inhibitors on cells and tissues by monitoring the impact that these have on LRRK2 phosphorylation of Ser910 and Ser935 (Delbroek et al. 2013) using highly selective monoclonal antibodies we developed against these residues (Dzamko et al. 2012). |
Start Year | 2012 |
Description | Neurobiological insights into alpha synuclein |
Organisation | University of Cambridge |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Neurobiological insights into alpha synuclein. Developed single molecule FRET to allow above studies to be undertaken. Original article in Cell 2012 Cremades et al (PMID: 22632969) |
Collaborator Contribution | Neurobiological insights into alpha synuclein. Developed single molecule FRET to allow above studies to be undertaken. Original article in Cell 2012 Cremades et al (PMID: 22632969) |
Impact | Neurobiological insights into alpha synuclein. Developed single molecule FRET to allow above studies to be undertaken. Original article in Cell 2012 Cremades et al (PMID: 22632969) |
Start Year | 2010 |
Description | Audioslide presentation of a paper by Claudia Manzoni on how LRRK2 PD patient cells react to starvation |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Audioslide presentation of a paper by Claudia Manzoni showing how fibroblast cells from people with Parkinson's disease caused by mutations in LRRK2 react to starvation. |
Year(s) Of Engagement Activity | 2013 |
URL | http://www.ucl.ac.uk/ukpdc/news-publications/pd-lrrk2-mutations-alter-autophagic-starvation-response |
Description | Biochemical Society meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Invited by the Biochemical Society to speak. Talk entitled "Unravelling the role of defective genes"; given at the conference "Beyond GWAS - a Biochemical Society meeting/workshop" on 1st July 2014 in London. |
Year(s) Of Engagement Activity | 2014 |
Description | Biogen Idec |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | John Hardy gave a seminar on the genetics of Parkinson's Disease at biotechnology company Biogen Idec in Cambridge, Massachusetts in July 2013. Teleconference and WebEx were used in the presentation, which increased the audience to thousands. |
Year(s) Of Engagement Activity | 2013 |
Description | Broomfield Hospital, Chelmsford |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Talk on the genetics of Parkinson's Disease and Alzheimer's Disease given to medical students on 25th April 2014. |
Year(s) Of Engagement Activity | 2014 |
Description | Cosy Science |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Public/other audiences |
Results and Impact | John Hardy gave a talk on the genetic analysis of neurological disease to a lay audience, without any visual aids, in the function room of a pub. This was organised as part of a series of science cafés in London in May 2013. |
Year(s) Of Engagement Activity | 2013 |
Description | Degenerating Brains public symposium |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Type Of Presentation | Keynote/Invited Speaker |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | 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. Very positive feedback, increased exposure. |
Year(s) Of Engagement Activity | 2013 |
URL | http://www.ucl.ac.uk/ukpdc/news-publications/video-public-lecture-degenerating-brains-new-research-a... |
Description | Genetics of LRRK2 (webcast) |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Type Of Presentation | Keynote/Invited Speaker |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | http://www.ucl.ac.uk/ukpdc/news-publications/video-lrrk2-genetics-nick-wood Providing insight into ongoing neurodegenerative disease research to lay people. |
Year(s) Of Engagement Activity | 2012 |
Description | Material World live interview |
Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | John Hardy was interviewed live for BBC Radio 4's Material World with Quentin Cooper. This reached audiences throughout the UK and beyond. The broadcast took place on 4th April 2013. |
Year(s) Of Engagement Activity | 2011,2013 |
Description | Neurodegenerative Diseases Initiative cross-consortium video |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Granny Marsh is 90 years old and living a wonderful life, but many her age suffer from degenerative brain diseases. Whilst the EU spends approximately £108 billion a year supporting those with dementias, currently less than one hundredth of that is spent on research. As yet there are no cures. That's why the Wellcome Trust and MRC are funding an international team of scientists to investigate Alzheimer's, Parkinson's and Motor Neuron Disease. Awareness, very positive feedback. |
Year(s) Of Engagement Activity | 2013 |
URL | http://youtu.be/VcIiHmkbDts |
Description | Neuromedia Corner |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Interviewed for a webcast explaining the recent advances in the genetics of Parkinson's Disease. unknown |
Year(s) Of Engagement Activity | 2010 |
Description | New York Times article |
Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Press release about the discovery of the new Alzheimer's disease gene (TREM2). |
Year(s) Of Engagement Activity | 2012 |
URL | http://www.nytimes.com/2012/11/15/health/gene-mutation-that-hobbles-immune-response-is-linked-to-alz... |
Description | Organisation Open Day |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Schools |
Results and Impact | Site visits from the public and special interest groups to provide insight into how research is being done on Parkinson's disease. Mark Cooper has hosted annual site visits from A level Biology students to learn about Parkinson's disease. |
Year(s) Of Engagement Activity | 2010,2011,2012,2013,2014,2015 |
Description | PUK site visit - 2011 |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Supporters |
Results and Impact | Site visit from Parkinson's UK members, to provide insight into how research is being done on Parkinson's disease. http://www.ucl.ac.uk/ukpdc/news-publications/video-lrrk2-patrick-lewis-parkinsons-uk-site-visit Video of visit available to public. |
Year(s) Of Engagement Activity | 2011 |
Description | PUK site visit - 2012 |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Supporters |
Results and Impact | Site visits from the public and special interest groups to provide insight into how research is being done on Parkinson's disease. Hosted by Marta Delgado. -- |
Year(s) Of Engagement Activity | 2012 |
Description | PUK site visit - 2013 |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Supporters |
Results and Impact | Site visits from the public and special interest groups to provide insight into how research is being done on Parkinson's disease. Hosted by Andrey Abramov. -- |
Year(s) Of Engagement Activity | 2013 |
Description | Parkinson's UK Gretschen Amphlet memorial lecture |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Type Of Presentation | Keynote/Invited Speaker |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | The lecture was given by Dr Patrick Lewis from UCL (who is a member of the Wellcome/MRC neurodegeneration consortium) and Dr Flaviano Giorgini from the University of Leicester. The subject of the lecture was Parkinson's and the genetic revolution: from genes to treatments , and the entire lecture can be viewed on Youtube on the link below. Increased exposure. |
Year(s) Of Engagement Activity | 2013 |
URL | http://www.ucl.ac.uk/ukpdc/news-publications/video-parkinsons-genes-treatments-gretschen-amphlet-mem... |
Description | Parkinson's UK Website |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Details on the finding of 5 genes which are involved in Parkinson's disease Picked up for UK press release |
Year(s) Of Engagement Activity | 2011 |
Description | Parkinson's UK Website |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Information disseminated to the general public about how changes in PINK1 can lead to Parkinson's disease Interest from PD society member visits to lab about the work that is being undertaken |
Year(s) Of Engagement Activity | 2010 |
Description | Press release of 'Genetic mutations linked to Parkinson's disease' article |
Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
Part Of Official Scheme? | No |
Type Of Presentation | Paper Presentation |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Press release of consortium study, published in Nature Neuroscience, showing how 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. News articles in Daily Mail, Herald Scotland, The Australian, and Huffington Post: http://www.dailymail.co.uk/health/article-2389706/Parkinsons-disease-caused-genetic-defect-claim-scientists-believe-closer-treating-condition.html http://www.heraldscotland.com/news/health/new-hope-for-brain-disease-treatment.21835795 http://www.theaustralian.com.au/news/latest-news/cell-clue-to-parkinsons-treatment/story-fn3dxix6-1226695592048 http://www.huffingtonpost.co.uk/2013/08/12/cell-targeting-treatment-parkinsons-disease_n_3742248.html Public and media interest, increased exposure. |
Year(s) Of Engagement Activity | 2013 |
URL | http://www.ucl.ac.uk/ukpdc/news-publications/genetic-mutation-parkinsons-disease-link-fbxo7 |
Description | Public lecture on the autophagy signaling network |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Public lecture by Francesco Cecconi, an eminent scientist in the field of autophagy and neurodegeneration, on Thursday the 25th of April 2013. |
Year(s) Of Engagement Activity | 2013 |
URL | http://www.ucl.ac.uk/ukpdc/news-publications/public-lecture-london-authophagy-francesco-cecconi |
Description | Science Media Centre Expert Encounter |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Media (as a channel to the public) |
Results and Impact | This engagement activity was in the style of an informal press briefing, on the topic "Should boxing be banned?" John Hardy was the sole member of the panel. This took place at The Wellcome Trust offices on 25th February 2013. |
Year(s) Of Engagement Activity | 2009,2013 |
Description | TREM2 talk in Rome |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Talk to specialists on themes raised in recent editorial in the New England Journal at a Marguerite RoAD Investigator Meeting |
Year(s) Of Engagement Activity | 2014 |
Description | Talk at Hebrew University-Hadassah Medical School |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Talk given by John Hardy on the genetic analysis of neurodegeneration to staff and students at the Hebrew University-Hadassah Medical School in Jerusalem in September 2013. |
Year(s) Of Engagement Activity | 2013 |
Description | Talk at Takeda |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Industry/Business |
Results and Impact | Prof John Hardy presented on the genetic analysis of neurodegenerative disease to staff at phramaceutical company Takeda in Cambridge, UK. |
Year(s) Of Engagement Activity | 2014 |
Description | Telegraph Article |
Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Press release of the findings of genetic studies of Parkinson's disease Increased interest from general public on PD genetic research |
Year(s) Of Engagement Activity | 2011 |
Description | The Mary Lyon Centre, MRC Harwell |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Talk given by Prof John Hardy to research staff at MRC Harwell Mammalian Genetics Unit on the Harwell Science and Innovation Campus in Oxfordshire on 11th February 2014. Title: "Genetic analysis of neurodegenerative disease: towards the endgame". |
Year(s) Of Engagement Activity | 2014 |
Description | UCL MSc Genetics of Human Disease lectures |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Postgraduate students |
Results and Impact | Various researchers including John Hardy, Helene Plun-Favreau and Nick Wood lectured to taught postgraduate students on such topics as "Cellular and Molecular Mechanisms of Disease" and "Genetics of Neurological Disease" each year between 2009 and 2015. |
Year(s) Of Engagement Activity | 2009,2010,2011,2012,2013,2014,2015 |
Description | UKPDC website |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Website providing an overview of UKPDC researchers, and their collaborators, what they do, and their research output - along with news updates on activities and published papers. www.ucl.ac.uk/ukpdc Public interest, wide reach. |
Year(s) Of Engagement Activity | 2010,2011,2012,2013 |
Description | Video: Advances in Genetic Understanding of Parkinson's Disease |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | 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. Video published on 8th January 2015. Too early to tell at date of form submission. |
Year(s) Of Engagement Activity | 2014,2015 |
URL | https://www.youtube.com/watch?v=sXg36yrMnc8 |
Description | World Congress of Brain, Behavior and Emotions |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Interactive Keynote Lecture entitled "The puzzling genetics of neurologic and psychiatric disorders: Where are we now?". This lecture was given to an international group of scientists and the audience consisted of a few hundred people. It was held at the Palais de Congrès in Montreal in April 2014. |
Year(s) Of Engagement Activity | 2014 |
Description | XX World Congress on Parkinson's Disease and Related Disorders |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | John Hardy was invited to give a presentation on Synuclein and Synucleinopathies. This reached an audience of researchers from across the globe. This took place in Geneva, Switzerland in December 2013. |
Year(s) Of Engagement Activity | 2013 |
Description | XXIst World Congress of Neurology |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Plenary Talk given by John Hardy - "Impact of genetics on the field of neurology". Took place in Vienna in September 2013. |
Year(s) Of Engagement Activity | 2013 |
Description | XXXIV Nordic Congress in Clinical Chemistry |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | International conference held in Gothenburg, Sweden from 16th-19th September 2014. Talk: "Next generation sequencing in clinical diagnosis". |
Year(s) Of Engagement Activity | 2014 |