Genetic Dissection of Neuromuscular Disorders

Lead Research Organisation: University College London
Department Name: Institute of Neurology

Abstract

Peripheral neuropathy is common, affecting approximately 2.5% of the UK population. When inherited in a family the condition is usually called Charcot-Marie-Tooth disease (CMT) and is one of the commonest inherited neurological disorders affecting 1 in 2500 people.

CMT usually starts in childhood or teenage years with progressive distal limb weakness, muscle wasting and glove and stocking sensory loss. Walking problems and foot deformities are common requiring ankle or leg supports, sticks and later wheelchair use. Many patients develop complications such as pain, degeneration of the joints, scoliosis and limb ulcers. There is no effective treatment available. CMT can essentially be divided into type 1 (CMT1) that affects the nerve myelin sheath or type 2 (CMT2) that affects the nerve axon. The motor form of CMT is called distal hereditary motor neuropathy (HMN) and the sensory form hereditary sensory and autonomic neuropathy (HSAN). There a number of genes that when defective, can cause CMT. The majority have been identified in CMT1, few genes in only a small proportion of cases have been found in the other types of CMT. Around 40% of CMT patients remain genetically unknown.

Next generation sequencing technology has transformed our ability to identify disease genes. Mutations in the protein encoding exons of genes account for most of human genetic diseases. We can now use revolutionary enrichment methods to select all the exons to sequence in an individual (exome) using this technology. In our laboratory we have established an effective exome sequencing pipeline which is perfectly suited to CMT gene identification, in small families or groups of patients with very similar phenotypes.

We propose an unprecedented gene discovery effort to identify and characterise a large proportion of the unknown CMT genes. We will focus on exome sequencing 100 CMT families, divided between CMT1, CMT2, distal HMN and HSAN. We expect to identify a number of disease genes, prove these defects and examine our entire series of CMT patients. Many genetic defects will require studies on other patient material such as fresh blood to prove the mutation mechanism. To further analyse the function of the CMT genes identified we have established a number of fruitful collaborations. We expect genes to cluster into pathways that are important for peripheral nerve homeostasis and when defective lead to nerve degeneration. Through the identification of these processes we hope to reveal treatment targets that will be promising candidates for therapeutic drug trials.

Technical Summary

Peripheral neuropathy is common, affecting approximately 2.5% of the UK population. Inherited neuropathy is usually called Charcot-Marie-Tooth disease (CMT) and is one of the commonest inherited neurological disorders affecting 1 in 2500 people.

CMT usually starts in childhood or teenage years with progressive distal limb weakness, muscle wasting and glove and stocking sensory loss. Walking problems and foot deformities are common requiring orthoses, sticks and later wheelchair use. CMT is genetically heterogeneous with over 30 genes identified that have revealing important biological insights into the pathophysiology of the peripheral nervous system. The majority of genes have been identified in the demyelinating form of CMT (type 1), few genes in only a small proportion of cases have been found in the other types of CMT. After excluding the known genes, around 40% of CMT patients remain genetically undefined.

Here we propose an unprecedented gene discovery effort to identify and characterise a large proportion of the unknown CMT genes. In the past we have been limited by the sequencing technology and the size of families, however, we can now perform whole exome sequencing of all protein encoding regions (exome) and flanking intron boundaries from enriched patient DNA samples. In our laboratory we have established next generation sequencing developing an effective exome sequencing pipeline that has so far, identified one novel disease gene. This method is perfectly suited to CMT gene identification, in small families or groups of patients with very similar phenotypes.

Whole exome sequencing will be performed in 100 CMT families. Half the families will be dominant and half recessive, divided between CMT1, CMT2, distal HMN and HSAN. In dominant families two individuals will be sequenced and in the recessives one. After thorough filtering and bioinformatic analysis we expect to identify a number of disease genes, prove these defects in families and then examine our extensive CMT database of cases to assess frequency, mutation spectrum and phenotype correlations. Many genetic defects will require protein and/or RNA studies from patient material to prove the mutation mechanism. True functional analysis is beyond the scope of this proposal but we have established a number of fruitful collaborations that have allowed the successful investigation of CMT genes. We expect these genes to cluster into pathways that are important for peripheral nerve homeostasis and when defective lead to nerve degeneration. Through the identification of these processes the hope must be that treatment targets will become apparent.

Publications

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Murphy SM (2012) Mutation in FAM134B causing severe hereditary sensory neuropathy. in Journal of neurology, neurosurgery, and psychiatry

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Paudel R (2016) DYT6 Dystonia: A Neuropathological Study. in Neuro-degenerative diseases

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Paudel R (2012) Review: genetics and neuropathology of primary pure dystonia. in Neuropathology and applied neurobiology

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Pihlstrøm L (2018) Lysosomal storage disorder gene variants in multiple system atrophy. in Brain : a journal of neurology

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Pihlstrøm L (2017) Genetics of neurodegenerative diseases: an overview. in Handbook of clinical neurology

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Proukakis C (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. in Movement disorders : official journal of the Movement Disorder Society

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Proukakis C (2013) Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data. in Movement disorders : official journal of the Movement Disorder Society

 
Description Improved and larger range of neurogenetic tests
Geographic Reach National 
Policy Influence Type Influenced training of practitioners or researchers
Impact Improved and larger range of neurogenetic tests. This leads to greater research and a better service for patients
 
Description BMA project grant
Amount £21,000 (GBP)
Organisation British Medical Association (BMA) 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2007 
End 01/2010
 
Description CRBC project grant/CRBC
Amount £98,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Academic/University
Country United Kingdom
Start 06/2009 
End 05/2011
 
Description Clinical Trial
Amount $214,235 (USD)
Organisation Food and Drug Administration (FDA) 
Sector Public
Country United States
Start 01/2018 
End 12/2021
 
Description Equipment award Wellcome Trust
Amount £661,363 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2011 
End 07/2016
 
Description Lily-Stoneygate Research Awards Programme
Amount £83,686 (GBP)
Organisation The Lily Foundation 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2017 
End 10/2018
 
Description MRC Project Grant
Amount £522,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 01/2011 
End 01/2015
 
Description MRC Research Grant (The Pathophysiology of Spinocerebellar degeneration)
Amount £1,600,000 (GBP)
Funding ID G0802760 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 02/2010 
End 01/2015
 
Description MYOPROSP Consortium
Amount £66,301 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start  
 
Description Neuromuscular Disease Theme
Amount £398,514 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Academic/University
Country United Kingdom
Start 06/2017 
End 05/2021
 
Description PhD studentship to work on IBM and neuromuscular disorders from the Saudi Government
Amount £150,000 (GBP)
Organisation Government of Saudi Arabia 
Sector Public
Country Saudi Arabia
Start 09/2016 
End 09/2020
 
Description Research Grant
Amount £146,520 (GBP)
Organisation Muscular Dystrophy UK 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2017 
End 08/2019
 
Description Solve-RD
Amount € 20,000 (EUR)
Funding ID 779257 
Organisation European Union 
Sector Public
Country European Union (EU)
Start 01/2018 
End 12/2022
 
Description UCL CBRC equipment grant
Amount £339,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Academic/University
Country United Kingdom
Start 08/2011 
End 08/2016
 
Description Wellcome Trust Equipment Grant
Amount £661,363 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2011 
End 08/2016
 
Description Wellcome Trust Strategic Award
Amount £980,000 (GBP)
Funding ID The Wellcome Trust (equipment and the Synaptopathies strategic award (104033/z/14/z) 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 05/2015 
End 04/2020
 
Title Genome sequencing and GeCIP 
Description Genome sequencing and GeCIP 
Type Of Material Technology assay or reagent 
Year Produced 2015 
Provided To Others? Yes  
Impact Genome sequencing and GeCIP 
URL http://www.genomicsengland.co.uk
 
Title Muscle international registry and biobank 
Description Muscle international registry and biobank 
Type Of Material Database/Collection of Data/Biological Samples 
Year Produced 2013 
Provided To Others? Yes  
Impact Muscle international registry and biobank 
 
Title Synaptopathies collaboration 
Description Synaptopathies collaboration 
Type Of Material Biological samples 
Year Produced 2015 
Provided To Others? Yes  
Impact Synaptopathies collaboration 
 
Title SOLVE-RD, Coriell, Neurobiobank database of samples, tissue 
Description SOLVE-RD, Coriell, Neurobiobank database of samples, tissue: all anonymous Important for genetics and analysis 
Type Of Material Database/Collection of data 
Provided To Others? No  
Impact SOLVE-RD, Coriell, Neurobiobank database of samples, tissue: all anonymous Important for genetics and analysis 
 
Title Synaptopathies collaboration 
Description Synaptopathies collaboration 
Type Of Material Database/Collection of data 
Year Produced 2015 
Provided To Others? Yes  
Impact Synaptopathies collaboration 
 
Description Ataxia UK 
Organisation Ataxia UK
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Information and genetic analysis of patients
Collaborator Contribution Made members aware of our work, identified patients and families
Impact Publications, made UK patients with Ataxia more aware
Start Year 2006
 
Description Athens collaboration on ataxia and neuropathy 
Organisation National and Kapodistrian University of Athens
Department Neurology Athens
Country Greece 
Sector Academic/University 
PI Contribution Large Greek study on ataxia and neuropathy in Greece
Impact Large Greek study on ataxia and neuropathy in Greece
Start Year 2010
 
Description BMA 
Organisation British Medical Association (BMA)
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Funding and publication
Collaborator Contribution Funding and good press for our research
Impact Funding and publication
Start Year 2007
 
Description Cambridge collaboration on Dog ataxia and neuropathy. 
Organisation University of Cambridge
Department Department of Veterinary Medicine
Country United Kingdom 
Sector Academic/University 
PI Contribution Cambridge collaboration on Dog ataxia and neuropathy. We are working on the genetics of neuropathy and ataxia in dog models of human disease
Collaborator Contribution Dog tissue
Impact Ongoing work
Start Year 2010
 
Description Childhood Motor Neuron Disease consortium 
Organisation Great Ormond Street Hospital (GOSH)
Department Department of Neurology
Country United Kingdom 
Sector Hospitals 
PI Contribution Collaborative group that have collected clinical details, cells, DNA and treatment responses on Childhood Motor Neuron Disease
Collaborator Contribution Collaborators have provided clinical details, cells, DNA for exome sequencing and gene identification
Impact A number of DNA samples and fibroblasts collected
Start Year 2011
 
Description Childhood Motor Neuron Disease consortium 
Organisation University of Pennsylvania
Department Department of Neurology
Country United States 
Sector Academic/University 
PI Contribution Collaborative group that have collected clinical details, cells, DNA and treatment responses on Childhood Motor Neuron Disease
Collaborator Contribution Collaborators have provided clinical details, cells, DNA for exome sequencing and gene identification
Impact A number of DNA samples and fibroblasts collected
Start Year 2011
 
Description Childhood Motor Neuron Disease consortium 
Organisation University of Sydney
Department Brain and Mind Research Institute
Country Australia 
Sector Academic/University 
PI Contribution Collaborative group that have collected clinical details, cells, DNA and treatment responses on Childhood Motor Neuron Disease
Collaborator Contribution Collaborators have provided clinical details, cells, DNA for exome sequencing and gene identification
Impact A number of DNA samples and fibroblasts collected
Start Year 2011
 
Description EUROSCA 
Organisation European Commission
Department EC FP6 Collaborative Projects
Country European Union (EU) 
Sector Academic/University 
PI Contribution Identification, screening and functional characterization of ataxia genes
Collaborator Contribution EUROSCA is a collaboration between researchers and clinicians working on ataxia. These has brought cases and techniques that have benefited my research.
Impact Publications as already give. Patients and clinical details of cases with ataxia
Start Year 2006
 
Description European Brain Bank Network 
Organisation Medical Research Council (MRC)
Department MRC UK Brain Banks Network
Country United Kingdom 
Sector Academic/University 
PI Contribution Brain tissue for our research
Collaborator Contribution Brain tissue for research
Impact Brain tissue for our research
Start Year 2006
 
Description European and American Brain Bank Network 
Organisation Medical Research Council (MRC)
Department MRC UK Brain Banks Network
Country United Kingdom 
Sector Academic/University 
PI Contribution This collaboration has given valuable patient brain tissue to our research
Collaborator Contribution Collaborated with tissus
Impact Publications and the addition of important tissue resources
Start Year 2006
 
Description Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead) 
Organisation Genomics England
Country United Kingdom 
Sector Public 
PI Contribution Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead)
Collaborator Contribution Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead)
Impact Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead)
Start Year 2015
 
Description Genomics England collaboration on new disease genes and risk factors 
Organisation Genomics England
Country United Kingdom 
Sector Public 
PI Contribution Collaboration on disease genomes
Collaborator Contribution Collaboration on disease genomes
Impact See publications in high impact journals such as Nature Genetics
Start Year 2019
 
Description Greek Collaboration on neurogenetics - Athens, Thessaloniki and Larisa 
Organisation National and Kapodistrian University of Athens
Department Neurology Athens
Country Greece 
Sector Academic/University 
PI Contribution Greek Collaboration on neurogenetics - Athens, Thessaloniki and Larisa Sharing of DNA and clinical details on series and families
Collaborator Contribution Greek Collaboration on neurogenetics - Athens, Thessaloniki and Larisa Sharing of DNA and clinical details on series and families
Impact Sharing of families and data
Start Year 2011
 
Description Laboratory of Neurogenetics, NIA 
Organisation National Institute on Aging
Country United States 
Sector Academic/University 
PI Contribution Collaborating on techniques such as developing DNA arrays and exome sequencing in our lab
Collaborator Contribution Collaboration on techniques and patients
Impact Joint publications and techniques
Start Year 2006
 
Description Laboratory of Neurogenetics, NIA and NIH, USA 
Organisation National Institute on Aging
Country United States 
Sector Academic/University 
PI Contribution Data, cases, publications
Collaborator Contribution Sharing of data, cases and techniquesData and publications
Impact Publications, assistance with grants
 
Description Laboratory of Neurogenetics, NIA and NIH, USA 
Organisation National Institute on Aging
Country United States 
Sector Academic/University 
PI Contribution Data, cases, publications
Collaborator Contribution Sharing of data, cases and techniquesData and publications
Impact Publications, assistance with grants
 
Description Larisa Greek parkinsonism study 
Organisation University of Thessaly
Department Neurology Thessaly
Country Greece 
Sector Academic/University 
PI Contribution Larisa Greek parkinsonism study. Over 1200 Greek parkinsonian patients and controls collected and DNA extracted
Impact Over 1200 Greek parkinsonian patients and controls collected and DNA extracted. Work ongoing, GWAS underway
Start Year 2010
 
Description MRC Centre for Neuromuscular Diseases 
Organisation University College London
Department MRC Centre for Neuromuscular Diseases
Country United Kingdom 
Sector Academic/University 
PI Contribution The MRC Centre for Neuromuscular Diseases is an MRC funded centre set up to investigate the causes and identify treatments for neuromuscular diseases.
Collaborator Contribution The MRC Centre for Neuromuscular Diseases is an MRC funded centre set up to investigate the causes and identify treatments for neuromuscular diseases. I am a member and collaborator in the The MRC Centre for Neuromuscular Diseases.
Impact The MRC Centre for Neuromuscular Diseases is an MRC funded centre set up to investigate the causes and identify treatments for neuromuscular diseases. I am a member and collaborator in the The MRC Centre for Neuromuscular Diseases.
Start Year 2006
 
Description MRC NMC 
Organisation University College London
Department MRC Centre for Neuromuscular Diseases
Country United Kingdom 
Sector Academic/University 
PI Contribution I am a member of the MRC Centre for Neuromuscular Diseases which has brought in very important collaborations between myself and Mike Hanna and Mary Reilly. We have generated considerable data, patient information and publications.
Collaborator Contribution I am a member of the MRC Centre for Neuromuscular Diseases which has brought in very important collaborations between myself and Mike Hanna and Mary Reilly. We have generated considerable data, patient information and publications.
Impact I am a member of the MRC Centre for Neuromuscular Diseases which has brought in very important collaborations between myself and Mike Hanna and Mary Reilly. We have generated considerable data, patient information and publications.
Start Year 2008
 
Description MSA Trust 
Organisation Sarah Matheson Trust for MSA
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Data, tours of the lab, newsletter information
Collaborator Contribution Patients, we write a research update in the newletter, many patients have given blood and donated their brain as a result of the research
Impact Publications, data, tours of the lab, newsletter information
Start Year 2006
 
Description NORD 
Organisation National Organization for Rare Disorders (NORD)
Country United States 
Sector Charity/Non Profit 
PI Contribution Patient's referred and a grant
Collaborator Contribution Patient's referred and a grant
Impact Patient's referred and a grant
Start Year 2008
 
Description Neuromics FP7 collaboration 
Organisation European Commission
Department Seventh Framework Programme (FP7)
Country European Union (EU) 
Sector Public 
PI Contribution Neuromics FP7 collaboration where we received funding for a post-doc (to prof hanna) and also funding for sequencing. There was significant collaboration and added value from this collaboration with shared results and materials
Collaborator Contribution Shared results and materials - genome/exome sequencing, functional data and patient materials
Impact Publications, collaboration and preparation for other rare disease grants
Start Year 2012
 
Description Neuromics neurogenetics collaboration 
Organisation Eberhard Karls University of Tubingen
Department Neuromics
Country Germany 
Sector Academic/University 
PI Contribution We are the channelopathy and ataxia part of the collaboration. Our role is exome sequencing, genetics and expression
Collaborator Contribution Groups working on several areas of genetics
Impact Recently started
Start Year 2012
 
Description PENN collaboration on Dog ataxia and neuropathy 
Organisation University of Pennsylvania
Department School of Veterinary Medicine (UPenn)
Country United States 
Sector Academic/University 
PI Contribution PENN collaboration on Dog ataxia and neuropathy. We are working on the genetics of neuropathy and ataxia in dog models of human disease
Collaborator Contribution Provided tissue and clinical details
Impact Joint grant submitted to NIH
Start Year 2010
 
Description Sakhalin Universitycollaboration 
Organisation Sakhalin State University
Country Russian Federation 
Sector Academic/University 
PI Contribution Collaboration on patients with Neuropathy in Russia
Impact ongoing
Start Year 2010
 
Description Sarah Matheson Trust for MSA 
Organisation Sarah Matheson Trust for MSA
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Brought patients and encouraged brain donation of MSA patients for our research
Collaborator Contribution Brought patients and encouraged brain donation of MSA patients for our research
Impact Publications, Brought patients and encouraged brain donation of MSA patients for our research
Start Year 2006
 
Description Synaptopathies consortium 
Organisation Partnership for Advanced Computing in Europe (PRACE)
Country Belgium 
Sector Academic/University 
PI Contribution Synaptopathies consortium: Wellcome Trust strategic award Sequencing in paroxysmal disorders with collaboration with Rothman, Kullmann, Hanna, Sisodiya, Goadsy and others
Collaborator Contribution Families and samples
Impact Built up a significant cohort
Start Year 2015
 
Description University of Tehran 
Organisation University of Tehran
Country Iran, Islamic Republic of 
Sector Academic/University 
PI Contribution Prof Elahe has provided many inportant families for our research and we currently share a PhD student
Collaborator Contribution Prof Elahe has provided many inportant families for our research and we currently share a PhD student
Impact Prof Elahe has provided many inportant families for our research and we currently share a PhD student
Start Year 2009
 
Description Wayne State University 
Organisation Wayne State University
Country United States 
Sector Academic/University 
PI Contribution Sharing of CMT1A patient data and DNA
Collaborator Contribution Sharing of CMT1A patient data and DNA
Impact Sharing of CMT1A patient data and DNA
Start Year 2008
 
Description dystonia genetics and functional gene collaboration 
Organisation Sanford Heart Hospital
Country United States 
Sector Hospitals 
PI Contribution Exome sequencing, fibroblast and expression studies
Collaborator Contribution dystonia genetics and functional gene collaboration
Impact DMRF joint grant
Start Year 2010
 
Title Development of gene panel testing in neurological disorders 
Description Development of gene panel testing in neurological disorders. This covers each clinical group of neurological disorders and will be available from January 2013 through the NHS and other outside groups at a cost basis 
Type Diagnostic Tool - Non-Imaging
Current Stage Of Development Initial development
Year Development Stage Completed 2012
Development Status Under active development/distribution
Impact Development of gene panel testing in neurological disorders. This covers each clinical group of neurological disorders and will be available from January 2013 through the NHS and other outside groups at a cost basis Impacts: 1. Many more genes offered, using panels these genes are completely covered. 2. Cheaper testing 3. Faster turnaround 
 
Title Riboflavin in MND and new gene tests 
Description he discovery of two genes for Childhood MND have changed practice and patients are now treated with Riboflavin and new genetic tests 
Type Therapeutic Intervention - Drug
Current Stage Of Development Initial development
Year Development Stage Completed 2012
Development Status Under active development/distribution
Impact he discovery of two genes for Childhood MND have changed practice and patients are now treated with Riboflavin 
 
Description "Genomics in Neurodegenerative disease -- what are we up to" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Lecture as HKUST IAS fellow, Hong Kong
Year(s) Of Engagement Activity 2019
 
Description "Neurogenetic Foundations of Movement Disorders - The Key to Cure?" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited Keynote Lecture
Year(s) Of Engagement Activity 2019
 
Description "The Genetics of the Dementias" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Postgraduate students
Results and Impact Invited teaching lecture at Queen Square on MSc Human Genetics course 2018-19
Year(s) Of Engagement Activity 2019
 
Description Advances in Alzheimer's Disease 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited speaker - The 10th Xiangya International Symposium of the Clinical and Basic Research on Neurodegenerative Disorders, China
Year(s) Of Engagement Activity 2019
 
Description Alzheimer's disease pathogenesis: what do we know and why have clinical trials failed 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact Invited public lecture
Year(s) Of Engagement Activity 2019
 
Description Aß hypothesis, AD genetics" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited lecture - Wenner-Gren Center (Sveavägen 166), Stockholm, Sweden
symposium : "Amyloid diseases: from biochemistry to clinical applications"
Year(s) Of Engagement Activity 2019
 
Description Crispr Talk - John and Selina 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Invited Lecture Royal London Hospital
Year(s) Of Engagement Activity 2019
 
Description Epidemiology of Alzheimer's Disease and Related Disorders 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Keynote speaker on teaching course at Bordeaux School of Neuroscience
Year(s) Of Engagement Activity 2019
 
Description Genetic analysis of late onset degenerative diseases implicates failures of damage response 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Speaker invitation and Announcement of The Brain Prize Awardee 2019 Copenhagen, Denmark
Year(s) Of Engagement Activity 2019
 
Description Genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Supporters
Results and Impact Wolfson final symposium - Institute of Child Health London
Year(s) Of Engagement Activity 2019
 
Description Genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Supporters
Results and Impact Invited Lecture Weston's meeting - 50th Year Anniversary Symposium, 33 Queen Square
Year(s) Of Engagement Activity 2019
 
Description Genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Invited Lecture - Wolfson Institute for Biomedical Research (WIBR) mini-symposium - Sainsbury Wellcome Centre London
Year(s) Of Engagement Activity 2019
 
Description Genetics in neurodegenerative disease 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited lecture at 2019 International Conference of Korean Dementia Association, (IC-KDA 2019) Seoul
Year(s) Of Engagement Activity 2019
 
Description Genetics in neurodegenerative diseases 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Invited teaching to PhD students on Biomarkers for neurodegenerative diseases PhD course
Year(s) Of Engagement Activity 2019
 
Description Genetics of Alzheimer's 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited lecture at Hong Kong University of Science and Technology ShenZhen branch
Year(s) Of Engagement Activity 2019
 
Description Genetics of Alzheimer's and other neuro-degenerative disease 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Lecture - China National Genebank - Jinsha Road, Dapeng New District, Shenzhen
Year(s) Of Engagement Activity 2019
 
Description Genetics of Dementias 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited Lecture XXIV World Congress of Neurology, Dubai - AE
Year(s) Of Engagement Activity 2019
 
Description Genetics of Neurodegeneration 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Lecture at Lisbon AD/PD meeting
Year(s) Of Engagement Activity 2019
 
Description Genomic analysis of neurodegenerative diseases 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Invited lecture Scientific Talk (to senior scientists) Odense University Hospital, Denmark
Year(s) Of Engagement Activity 2019
 
Description Genomic analysis of the mechanisms of neurodegenerative disease in Denmark to PhD students 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Teaching Lecture to PhD students in neuroscience at the NeuroGrad Winter School, Copenhagen
Year(s) Of Engagement Activity 2019
URL https://neurograd.ku.dk/neurograd-winter-school/
 
Description Genomic clues to neurodegenerative disease mechanisms 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Brain Prize Special Lecture/ keynote lecture at ECNP Congress in Copenhagen
Year(s) Of Engagement Activity 2019
 
Description Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead) 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead)
Year(s) Of Engagement Activity 2015
URL http://www.genomicsengland.co.uk
 
Description Genomics of Neurodegeneration 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited lecture - 3rd Rijeka Forum on Neurodegenerative diseases, Croatia Rijeka
Year(s) Of Engagement Activity 2019
 
Description Genomics of neurodegenerative disease 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Keynote speaker FENS The Serbian Neuroscience Society. with the Neuroscience societies of Romania and Turkey.
Belgrade Serbia.
Year(s) Of Engagement Activity 2019
 
Description HSP society 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact HSP yearly meet and section in HSP booklet
Year(s) Of Engagement Activity 2012,2013
 
Description Inaugural Baillieu Myer Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Inaugural Baillieu Myer Lecture, in honour of contribution to medical research, in particular dementia research
Year(s) Of Engagement Activity 2019
 
Description Invited Round table public talk 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Invited public round table - Brain Prize Evening - Lundbeck - BNA Festival, The Convention Centre Dublin
Year(s) Of Engagement Activity 2019
 
Description Invited talk to the Elderly 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact Invited speaker at Chinese Dementia Meeting at Community Elder Center at Hebei, China
Year(s) Of Engagement Activity 2019
 
Description Meet the Professors 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Round table public talk
Year(s) Of Engagement Activity 2019
 
Description Neanderthals - talk for The National Trust 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Lecture in response to a request to talk to a regional National Trust membership
Year(s) Of Engagement Activity 2019
 
Description Neuromuscular research day 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Schools
Results and Impact Around 100 patients

More patients involved in our research
Year(s) Of Engagement Activity 2007,2008,2009,2010
 
Description Opening lecture: Alzheimer's disease: a personal view on early diagnosis and treatment 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Lecture - XVIII Teófilo Hernando's International Summer School of Pharmacology
Frontier Biomarkers and Drug Discovery for the Early Diagnosis and Treatment of Alzheimer's Disease
Year(s) Of Engagement Activity 2019
 
Description Progress in the genomic analysis of neurodegeneration 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Lecture to the department of Neurodegenerative Disease as an update on work in progress
Year(s) Of Engagement Activity 2019
 
Description Rethinking PD: From a Single Disease to Multiple Diseases:: Genetics, Epigenetics and Environmental Factors 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Lecture by The Preuss Foundation Seminar on State of the Art Parkinson's Disease Research ~ La Jolla, California
Year(s) Of Engagement Activity 2019
 
Description Session 4 - Panel discussion: 'The Future of Neuroscience' 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Invited Lecture - UCL Neuroscience Symposium 10th Anniversary, UCL Institute of Education
Year(s) Of Engagement Activity 2019
 
Description Skype 2 hour lecture to students 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Teaching Lecture to Masters Students
"Athens International Master's Programme in Neurosciences"
University of Athens
Department of Biology
Year(s) Of Engagement Activity 2019
 
Description The importance of genetics and molecular biology in neurodegenerative diseases 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Invitation to Lecture on MRes Translational Neuroscience programme - 7 Queen Square
Year(s) Of Engagement Activity 2019
 
Description The importance of genetics and molecular biology in neurodegenerative diseases 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Invited teaching UCL - Basic neuroscience and investigation of Nervous system - CLNE0009 Queen Square
Year(s) Of Engagement Activity 2019
 
Description The role of genetics and genetic testing in PD 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited Lecture at World Parkinson Coalition 2019 Kyoto, Japan
Year(s) Of Engagement Activity 2019
 
Description talk on Genetics at McGill University in Canada 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited Lecture
Year(s) Of Engagement Activity 2019