Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis - The International IBM Consortium Genetic Study

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

Abstract

The commonest muscle disease that occurs in patients over the age of 45 years is a muscle wasting disease called inclusion body myositis (IBM). Patients typically develop progressive muscle wasting and weakness that progresses and causes marked disability and ultimately death from immobility over the course of around 10 years. There are no effective treatment for patients with IBM. The precise cause of this muscle disease is not known. However, on muscle biopsies from patients there seems to be a combination of some mild inflammation in the muscle and also an accumulation of abnormal proteins, similar to the accumulated proteins that are seen in the brains of patients with neurodegenerative diseases such as Alzheimer's, fronto-temporal dementia and motor neurone disease.

Previous research has indicated that there may be genetic factors that predispose people to getting IBM but the previous studies have been quite small and not conclusive. In this research we have brought together experts in IBM from all over the world including Europe, USA and Australia to generate increased awareness of IBM, define diagnostic criteria, collect clinical information and DNA. Over the last three years we have been able to collect the largest group ever of IBM patients and DNA samples - approximately 950 cases and this number will be over 1000 once this study begins. The patient DNA and muscle tissue has been carefully stored for this work. This very large collection of DNA has put us in a very good position to undertake much more detailed genetic studies than have ever been done before to try and work out what the genetic risks factors and genes are that predispose people to this devastating disease.

We plan to use the latest next generation sequencing techniques to unravel all the coding variants (those that alter proteins) that are present in 200 IBM patients DNA samples in comparison with 200 patients that are controls with normal muscles. We will analyze the DNA that we have already extracted from patients muscle tissue as this is the best diagnostic group. We will replicate the variants found in a further 700 IBM cases and over 2200 other controls. We are highly experienced in next generation sequencing technology and this has been strengthened by the recent award of a Wellcome Trust equipment grant to purchase the latest next generation sequencer. Recently we have used these techniques to identify the genetic causes of other neuromuscular disorders.

In comparison with other disorders like Alzheimer's disease, where proteins are aggregated in the brain as opposed to the muscle as in IBM, the greatest advancement have been made with the identification of disease genes and genetic risk factors. If we can work out what the key genes are and how these disease causing pathways function, we will pave the way for new therapies and treatments to help patients.

Technical Summary

1. Library preparation for exome sequencing
In each case high quality DNA (A260/280 ratio >1.8) has been extracted. We have switched over to the Illumina TruSeq Enrichment Kit as it allows six samples to be pooled for exome sequencing and is therefore far more cost effective. The enrichment method is a standard protocol from Illumina starting with the TruSeq sample preparation, pooling of six samples, capture of targeted regions with the TruSeq exome kit and then sequencing. The HiSeq has a very large capacity for sequencing, with the TruSeq enrichment our current most cost effective run is 100bp paired-end reads which gives 60 million reads per sample, at around 68 fold coverage (2 samples per lane). Depending on cost we can modify the runs in several ways, usually by extending read length and changing samples per lane.

2. Exome sequence data processing and variant calling
After the genome analyser generates the raw sequencing images (image analysis) there are several steps involved in the read conversion to variant calling. These include initial base calling, sequence alignment, building, indexing, sorting SAM files, recalibrating quality scores, removing duplicates and merging lanes. Variants are called and filtered based on quality control (read depth, quality scores etc). A genotype file is produced and then annotation and prediction of consequence (amino-acid change, predicted damage of variant) is carried out using the package Sorting Intolerant From Tolerant (SIFT).

3. Statistical analysis
This will primarily focus on gene level comparisons testing a reduced set of genes identified as harbouring non-synonymous coding variants or splice variants that may contribute to risk of IBM. Exome sequence data will be filtered first to remove common variants found in publicly available data from dbSNP and the 1000 Genomes Project. A second level of filtering will be used to extract non-synonymous coding variants and splice variants using existing exome annota

Planned Impact

Who will benefit
Importance and unmet health need for patients and the economy: Inclusion body myositis is the most common acquired muscle disease in patients over the age of forty years. It causes progressive major disability and often premature death after 5-10 years from the consequences of immobility. It represents a significant unmet health need in the UK-worldwide. Since onset is often in prime working life and patients often become significantly disabled quickly and cannot contribute to the economy. A systematic genetic study using the latest genetic technology has not been undertaken. Limited studies have suggested a HLA association, however the disease is unresponsive to immunosuppression and discovery of new mechanisms pathways is required. Key beneficiaries from this research include 1. The immediate and wider science communities, 2. Key established and new industry partners who can develop new paradigms for drug testing based on new genetic discovery 3. Patient organisations and patients. Until now IBM patients have been a relatively neglected group experiencing delayed and misdiagnosis. Professor Hanna and the MRC Centre for translational research have existing partnerships with the major patient organisations linked to IBM namely the myositis support group where Professor Hanna is an advisor helped plan annual patient meetings and the Muscular Dystrophy Campaign that also support IBM patient groups.

How will they benefit
Potential areas for exploitation from this research: Discovery of new genetic associations for IBM will have significant potential to build on existing collaborations with industry and develop new industry collaborations. Potential new areas arising from this research include- identification of new target pathways that might be druggable, the possibility of developing new or taking advantage of existing animal models and of developing new cellular models. All these possibilities will be of interest to industry especially for testing new therapies based on the genetic discovery of new targets. We have established collaborations with the Senexis (Cambridge biotech) to screen anti protein aggregate small molecules and we are currently using a nematode and a myoblast line for screening. However, Senexis- (see MRC Centre Senexis collaboration at www.cnmd.ac.uk) have access to very large number of potential agents- new genetic discovery could direct selection. We have an existing collaboration with Cytrx USA and completing a proof of principle heat shock protein upregulation experimental medicine study in IBM- this relationship will be developed by new genetic discovery. New IBM genetic associations has potential for new genetic testing paradigms for risk stratification and potential for commercialisation of genetic testing.
With Patients and Patient Organisations- the MRC Centre for Neuromuscular Diseases has established effective and regular communication channels with the key patient groups representing IBM. Results of this research along with implications and impact for patients and families will be discussed at the annual Myositis Support Group meeting, the annual MRC Centre patient group meeting and the Muscular Dystrophy Campaign patient group meetings and local branch meetings. All our latest IBM research is posted on the MRC Centre website, the MDC website and the Myositis support group newsletter. With policy makers and NHS commissioners-Professor Hanna is actively engaged with the cross party parliamentary group for neuromuscular diseases including IBM and has given evidence in parliament about the impact of neuromuscular diseases including IBM and has worked with this group and the commissioners to develop standards of care for patients- this work is ongoing and can include implications of this genetic research discovery for patient care eg genetic risk assessment.

Organisations

Publications

10 25 50
 
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 05/2009 
End 05/2011
 
Description Equipment award Wellcome Trust
Amount £661,363 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2011 
End 07/2016
 
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 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 08/2016 
End 09/2020
 
Description Project grant: A randomised controlled trial of efficacy of heat shock protein upregulation in IBM
Amount $1,543,444 (USD)
Organisation Food and Drug Administration (FDA) 
Sector Public
Country United States
Start  
 
Description Proof of concept trial
Amount $100,000 (USD)
Organisation Higher Education Funding Council for England 
Sector Public
Country United Kingdom
Start 04/2016 
End 07/2016
 
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 07/2011 
End 08/2016
 
Description Wellcome Trust Equipment Grant
Amount £661,363 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2011 
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 04/2015 
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 
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Provided To Others? Yes  
Impact Muscle international registry and biobank 
 
Title Synaptopathies collaboration 
Description Synaptopathies collaboration 
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Provided To Others? Yes  
Impact Synaptopathies collaboration 
 
Title MOESM1 of Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing 
Description Additional file 1: Table S1. Summary of demograhics of cases used, and all experiments performed on each. These are iindicated by "x" in relevant cell, with the following exceptions: The % SNCA mosaicism is provided by cell type for the SN and Cingulate cortex. The region(s) from which single cells were sequenced are shown in the relevant cells. The GCI grade is shown in the relevant cells. Note that the single DLB case was reported with ILBD in SN experiments. Empty cells signify that data not available, or experiment not performed. PMI = post mortem interval. OC = occipital cortex, PUT = putamen. sc = single cell. MPS = mate pair sequencing. AD = Alzheimer's disease. 
Type Of Material Database/Collection of data 
Year Produced 2019 
Provided To Others? Yes  
URL https://springernature.figshare.com/articles/MOESM1_of_Investigation_of_somatic_CNVs_in_brains_of_sy...
 
Title MOESM1 of Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing 
Description Additional file 1: Table S1. Summary of demograhics of cases used, and all experiments performed on each. These are iindicated by "x" in relevant cell, with the following exceptions: The % SNCA mosaicism is provided by cell type for the SN and Cingulate cortex. The region(s) from which single cells were sequenced are shown in the relevant cells. The GCI grade is shown in the relevant cells. Note that the single DLB case was reported with ILBD in SN experiments. Empty cells signify that data not available, or experiment not performed. PMI = post mortem interval. OC = occipital cortex, PUT = putamen. sc = single cell. MPS = mate pair sequencing. AD = Alzheimer's disease. 
Type Of Material Database/Collection of data 
Year Produced 2019 
Provided To Others? Yes  
URL https://springernature.figshare.com/articles/MOESM1_of_Investigation_of_somatic_CNVs_in_brains_of_sy...
 
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 (GEL) 100,000 genomes project: population diversity project 
Organisation Genomics England
Country United Kingdom 
Sector Public 
PI Contribution Genomics England 100,000 genomes project: population diversity project Over the next 3 years GEL will sequence 20,000 patients from diverse populations. Neurology will be a major component of this and will benefit diagnosis and gene discovery in diverse, underrepresented populations in many ares of neurology
Collaborator Contribution Over the next 3 years GEL will sequence 20,000 patients from diverse populations. Neurology will be a major component of this and will benefit diagnosis and gene discovery in diverse, underrepresented populations in many ares of neurology
Impact None as yet
Start Year 2023
 
Description Genomics England 100,000 genomes project Transcriptome sequencing 
Organisation Genomics England
Country United Kingdom 
Sector Public 
PI Contribution Genomics England Transcriptome sequencing In 100,000 genomes project, patients that gave mRNA as PAXgene blood will have RNA extracted and transcriptome sequencing. We plan to investigate the transcriptome in comparison with the genome sequencing to increase diagnostic yield, indentify known and new disease gene pathways
Collaborator Contribution Genomics England Transcriptome sequencing In 100,000 genomes project, patients that gave mRNA as PAXgene blood will have RNA extracted and transcriptome sequencing. We plan to investigate the transcriptome in comparison with the genome sequencing to increase diagnostic yield, indentify known and new disease gene pathways. The transcriptome sequencing will benefit a number of rare disease projects
Impact None as yet
Start Year 2023
 
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 Institutes of Health (NIH)
Department National Institute on Aging
Country United States 
Sector Public 
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 Institutes of Health (NIH)
Department National Institute on Aging
Country United States 
Sector Public 
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 Institutes of Health (NIH)
Department National Institute on Aging
Country United States 
Sector Public 
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 Tübingen
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
 
Description "Do Genetic Findings Converge on Discrete Pathophysiological Pathways?" invited lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact 12th National Alzheimer Disease Conference, Virtual Eskisehir Turkey
Year(s) Of Engagement Activity 2022
 
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 06/07/23 The role of genetics in the pathophysiology of PD 6th World Parkinson Congress in Barcelona On behalf of the Program Committee Invited Speaker 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact 06/07/23 The role of genetics in the pathophysiology of PD 6th World Parkinson Congress in Barcelona On behalf of the Program Committee Roundtable Host.
Year(s) Of Engagement Activity 2023
URL https://wpc2023.org/page/ScientificProgram
 
Description 06/09/23 Invited Keynote speaker Leeds ARUK Network symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact 06/09/23 Alzheimer's. From genetic analysis to treatment - KEYNOTE Leeds ARUK Network symposium Profs Anthony Turner and Renee Frank Invited Keynote speaker
Year(s) Of Engagement Activity 2023
 
Description 09/11/23 IAS Distinguished Lecture: The Genetics of the Major Neurodegenerative Diseases: From Mechanisms to Treatments 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact 09/11/23 IAS Distinguished Lecture: The Genetics of the Major Neurodegenerative Diseases: From Mechanisms to Treatments HKUST Jockey Club Institute for Advanced Study Hong Kong Invited Speaker
Year(s) Of Engagement Activity 2023
 
Description 13/10/23 "Genetics of Alzheimer's Disease: its convergence on and divergence from amyloid hypothesis" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact 13/10/23 "Genetics of Alzheimer's Disease: its convergence on and divergence from amyloid hypothesis" 13th National Alzheimer's Congress - Bodrum, Turkey Invitation Murat Emre And Bedia Samanci Behavioral Neurology and Movement Disorders Unit Istanbul Faculty of Medicine, Istanbul University Invited Opening Lecture
Year(s) Of Engagement Activity 2023
URL https://www.bing.com/videos/search?q=13th+National+Alzheimer%27s+Congress+%e2%80%93+Bodrum%2c+Turkey...
 
Description 15/09/23 Honorary doctorate seminar University of Rijeka, Croatia 
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Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact 15/09/23 Honorary doctorate seminar University of Rijeka, Croatia On behalf of the University of Rijeka Madam Rector, Prof. Snježana Prijic-Samaržija, Ph.D.
Year(s) Of Engagement Activity 2023
 
Description 16/05/23 Virtual for Biomarkers Course Invited speaker Teaching 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact invited teaching talk by Romina Garrido on behalf of Mark Calvet Barcelona Beta Brain Research Center (BBRC) Virtual for Biomarkers Course.
Year(s) Of Engagement Activity 2023
 
Description 30/10/23 Enhancing Basic Clinical Collaborative Research Engagement for Health and Well-Being 
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Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact 30/10/23 Enhancing Basic Clinical Collaborative Research Engagement for Health and Well-Being Plenary Speaker for 10th Faculty of Basic Medical Sciences Annual Scientific Conference - Nigeria - Virtual Invited by Prof AJ Akindele
University of Lagos, Nigeria Invited lecture
Year(s) Of Engagement Activity 2023
 
Description 31/10/23 Brain Health and the Latest Research into Dementia Prevention Dementia Summit 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact 31/10/23 Brain Health and the Latest Research into Dementia Prevention Dementia Summit,
The King's Fund - No. 11 Cavendish Square, London W1G 0AN Invited speaker
Year(s) Of Engagement Activity 2023
 
Description A tribute to Stuart - talk about him as a person, colleague, and contributor to dementia research 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Supporters
Results and Impact The Alzheimer's Research UK Conference
Brighton Centre, Kings Road, Brighton BN1 2GR
invited to speak in a session in memory of Stuart Pickering-Brown
Year(s) Of Engagement Activity 2022
 
Description AD research and future 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 Media (as a channel to the public)
Results and Impact Virtual Interview Yasemin Saplakoglu
Biology Staff Writer
Quanta Magazine
C: (347) 585-9167
New York, New York
Year(s) Of Engagement Activity 2022
 
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 Amyloid hypoithesis.. what was right and what was wrong Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact 6th Rijeka Forum on Neurodegenerative Disease Croatian Academy of Sciences and Arts
Department of Biomedical Sciences in Rijeka
Year(s) Of Engagement Activity 2022
URL https://neurolab.uniri.hr/?page_id=24#:~:text=The%206th%20Rijeka%20Forum%20of,of%20the%20amyloid%20c...
 
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 Dementias - Invited Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact https://www.fondazioneprada.org/project/human-brains-preserving-the-brain/?lang=en#:~:text=Realized%20in%20collaboration%20with%20thirteen,2022)%20at%20Fondazione%20Prada's%20Milan
invited Lecture
Year(s) Of Engagement Activity 2022
 
Description Dementias - Invited Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact "Preserving the Brain" is a forum on neurodegenerative diseases presented in September and October 2022, as the fourth phase of "Human Brains," Fondazione Prada's neuroscience project. Realized in collaboration with thirteen of the most prestigious international neuroscience institutes and universities, "Human Brains: Preserving the Brain - Forum on Neurodegenerative Diseases" comprises an exhibition (16 September - 10 October 2022) and a conference (6 and 7 October 2022) at Fondazione Prada's Milan premises and online.
"Preserving the Brain" aims to stimulate an open and critical exchange between international scientists and experts on neurodegenerative diseases, such as Alzheimer's, Parkinson's, Amyotrophic lateral sclerosis and Multiple sclerosis, which are widely spread and as yet incurable. The forum participants include researchers, patient associations, and representatives of health care institutions and the pharmaceutical and biotechnology industries. They will debate the current state of knowledge of these diseases and the tools currently used to fight them, while also seeking to identify lacunae in the search for possible therapies, and jointly defining priorities and strategies to sustain scientific research.
Year(s) Of Engagement Activity 2022
URL https://www.fondazioneprada.org/project/human-brains-preserving-the-brain/?lang=en#:~:text=Realized%...
 
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 Failures in Damage Response Underlie Late Onset Neurodegenerative Diseases and Explain the Relationship Between Pathology and Genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Virtual
UK-Russia online forum on Neurodegenerative Diseases and Brain Plasticity
Requested by
Alena Gureva | Science and Innovation Officer, UK Science & Innovation Network in Russia
British Embassy Moscow | Smolenskaya Naberezhnaya, 10 | Moscow 121099
Year(s) Of Engagement Activity 2022
 
Description Genetic Analysis of Neurodegeneration Implicates a Failure of Damage Response Pathways Pre-recorded and live Q&A 
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 Media (as a channel to the public)
Results and Impact Neural Pathways Underlying Brain Function and Pathologies Organized by: Nature Portfolio, Chinese Institute for Brain Research, Beijing (CIBR)
Supported by: Beijing Municipal Science & Technology Commission, Administrative Committee of Zhongguancun

This event aims to bring together Chinese and international researchers at the forefront of brain science to share their recent achievements in helping to push our understanding forward under both normal and pathological conditions.
Year(s) Of Engagement Activity 2022
URL https://neuralpathways.natureresearch.cn/
 
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 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 
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 and neurodegeneration 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Invited to present a teaching lecture to the Basal Ganglia Club Gilliatt Lecture Theatre Queen Square by Dr Amit Batla MBBS, MA (Clin Ed), MD (Med), DM (Neurology), FRCP
Clinical Associate Professor (teaching), Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology
Year(s) Of Engagement Activity 2022
 
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 in neurodegenerative diseases - teaching lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact "Biomarkers for neurodegenerative diseases" Day 1 - London edition PhD course "Biomarkers for neurodegenerative diseases" - 2022
Year(s) Of Engagement Activity 2022
URL https://www.ucl.ac.uk/ion/study/biomarkers-neurodegenerative-diseases
 
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 Neurodegeneration 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Zoom Teaching lecture - invited by Dr Kerri Kinghorn
ucl lectures Neurological diseases module GENE003
Year(s) Of Engagement Activity 2022
 
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 2015,2017,2018,2019,2020
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 Grand Rounds Invitation: Albert Einstein College of Medicine - Montefiore Medical Center 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Grand Rounds Invitation: Albert Einstein College of Medicine - Montefiore Medical Center talk entitled: Genomic analysis of neurodegenerative diseases implicates failures of damage clearance with Q&A
Year(s) Of Engagement Activity 2021
 
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 Hong Kong Student Association of Neuroscience (HKSAN) - Neuroscience: Past, Present, Future Symposium of 1st Asia-Pacific Neuroscience Student Congress and HKSAN 2nd Annual Conference (APNSC-HKSAN) 2021 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited speaker to Hong Kong Student Association of Neuroscience (HKSAN) - Neuroscience: Past, Present, Future Symposium of 1st Asia-Pacific Neuroscience Student Congress and HKSAN 2nd Annual Conference (APNSC-HKSAN) 2021. Talk entitled: Whole genome analysis of neurodegeneration
Year(s) Of Engagement Activity 2021
URL https://www.hksaneuroscience.org/apnsc-hksan-programme
 
Description INTERVIEW with- Camilla De Fazio - Popular Science about the FDA approval of the first new drug for Alzheimer's disease - 
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 Other audiences
Results and Impact INTERVIEW with- Camilla De Fazio - Popular Science about the FDA approval of the first new drug for Alzheimer's disease
Year(s) Of Engagement Activity 2021
URL http://www.popsci.it/approvazione-di-aducanumab-contro-lalzheimer-una-svolta-tra-molte-incertezze.ht...
 
Description ISMND Science Webinar Series 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Supporters
Results and Impact Invited speaker by Diane Bovenkamp, Ph.D. Vice President, Scientific Affairs, BrightFocus Foundation
Genomic analysis of neurodegenerative disease reveals commonalities between them and point the way towards therapies
Year(s) Of Engagement Activity 2023
 
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 Interview with USA Today Health Reporter Ken Alltucker 
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 Media (as a channel to the public)
Results and Impact Interview with USA Today Health Reporter Ken Alltucker about results of new Alzheimer drug trials
Year(s) Of Engagement Activity 2022
 
Description Invited Interview for YouTube Channel 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Recording for the Wonderbirds show - Filmed interview
Year(s) Of Engagement Activity 2023
URL https://www.youtube.com/watch?v=1Mp1E4pYE2k
 
Description Invited Interview with the Daily Mail Newspaper for new Alzheimer drugs 
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 11/05/23 Daily Mail's Good Health supplement on the newer drugs for Alzheimer's Zoom recording with the Daily Mail Jo Waters Daily Mail Invited Interview
Year(s) Of Engagement Activity 2023
 
Description Invited Interview with the Financial Times 
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 09/06/23 Lecanemab Interview Financial Times story Hannah Kuchler
Global Pharmaceuticals Correspondent
Financial Times Invited Interview
Year(s) Of Engagement Activity 2023
 
Description Invited Interview/Q&A - Biomarkers for neurodegenerative diseases 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Cars and Scientists short film series, now supported by Jackie Stewart's charity Race Against Dementia
Year(s) Of Engagement Activity 2022
URL https://www.raceagainstdementia.com/research/accelerating-research/
 
Description Invited Keynote speaker - Genomic analyses of neurodegenerative diseases for Genomics of Brain Disorders 2023 - Wellcome Genome Campus, near Cambridge, UK 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Postgraduate students
Results and Impact 19/05/23 Genomic analyses of neurodegenerative diseases Genomics of Brain Disorders 2023 - Wellcome Genome Campus, near Cambridge, UK
Invited Keynote speaker
On behalf of the Scientific Programme Committee:
• Cornelis Blauwendraat NIH/National Institute on Aging, USA
• Kristen Brennand Yale University, USA
• Anders Børglum Aarhus University, Denmark
• Mina Ryten UCL Great Ormond Street Institute of Child Health, UK Keynote speaker
Teaching
Year(s) Of Engagement Activity 2023
 
Description Invited Plenary Lecture for ABN meeting in Belfast 
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 10/05/23 "The Genetics of Neurodegenerative Disease" ABN (Belfast) Invited by ABN meetings secretary PLENARY LECTURE
Year(s) Of Engagement Activity 2023
 
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 Speaker - 5th RIJEKA FORUM ON NEURODEGENERATIVE DISEASES NEURODEGENERATIVE DISEASES: TOWARD THERAPY 
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 to 5th RIJEKA FORUM ON NEURODEGENERATIVE DISEASES NEURODEGENERATIVE DISEASES: TOWARD THERAPY
Talk entitled: Genetic analysis of decline of disease rate
Year(s) Of Engagement Activity 2021
URL https://uniri.hr/wp-content/uploads/2021/11/Simpozij-49_finalno.pdf
 
Description Invited Speaker 30th Adler Symposium on Alzheimer's Disease 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Supporters
Results and Impact Goal of the Symposium
The 30th anniversary Adler Symposium will focus on issues that are directly relevant to Alzheimer's disease (AD) or on therapies for other disorders that may impact AD. There are four major themes: 1) AD diagnostics and therapeutics; 2) Non-AD therapies that could impact our thinking about AD; 3) Role of genetics, epigenetics, and innate immunity in AD; 4) Brain cell senescence and systemic factors that influence neurodegeneration.
The overall format of the meeting should also provide plentiful opportunities for informal interchanges among all the speakers and participants.
Year(s) Of Engagement Activity 2023
 
Description Invited interview for BBC Radio 4 Today programme interview with VICTORIA GARDINER Senior Journalist on new Alzheimer drugs 
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 BBC Radio 4 Today programme invited interview with VICTORIA GARDINER Senior Journalist for new Alzheimer drugs
Year(s) Of Engagement Activity 2023
 
Description Invited lecture - Alector Seminar and round table 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact Invited speaker entitled: Genomic analysis of neurodegeneration implicates proteostasis as the key problem in late-onset disease followed by round-table discussions
Year(s) Of Engagement Activity 2021
 
Description Invited speaker - The Genetics Society of Korea 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact Invited Plenary Speaker to The Genetics Society of Korea
Year(s) Of Engagement Activity 2021
URL https://www.illumina.com/content/illumina-marketing/spac/en_AU/events/conferences/2021/icgsk-2021.ht...
 
Description Invited speaker NIH Clinical Neuroscience Grand Rounds Main Lecture Speaker 
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 talk entitled: Genomic Analysis of the Major Neurodegenerative Diseases - NIH Clinical Neuroscience Grand Rounds with Q&A
Year(s) Of Engagement Activity 2021
 
Description Invited speaker to 45th FEBS Congress 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Talk entitled: Failures in Protein Clearance Partly Underlie Late Onset Neurodegenerative Diseases and Link Pathology to Genetic Risk at 45th FEBS conference
Year(s) Of Engagement Activity 2021
URL https://2021.febscongress.org/
 
Description Invited speaker to The 15th International Conference on Alzheimer's & Parkinson's Diseases (AD/PD) Eisai-sponsored Satellite symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Talk entitled:The biological and genetic evidence of the Aß pathway
The 15th International Conference on Alzheimer's & Parkinson's Diseases (AD/PD)
Eisai-sponsored Satellite symposium
Year(s) Of Engagement Activity 2021
URL https://adpd2021.kenes.com/
 
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 Keynote Lecture - Genomics of Neurodegeneration: On the way to therapies 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact 13/06/23 Keynote Lecture - Genomics of Neurodegeneration: On the way to therapies IOE, UCL's Faculty of Education and Society, 20 Bedford Way, Bloomsbury, WC1 Invitation from UCL Professors Trevor Smart and Antonella Riccio UCL 14th edition Neuroscience Symposium - keynote speaker bringing together over 800 Neuroscientists, policy and industry attendees. Delegates have the chance to create new cross-disciplinary links, foster collaboration between basic and clinical researchers and visit our trade exhibition
Year(s) Of Engagement Activity 2023
 
Description Keynote Presentation Molecular Neurodegeneration and Therapeutic Approaches course: 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 Keynote Presentation Molecular Neurodegeneration and Therapeutic Approaches course - Genomic analysis of neurodegeneration Wellcome Genome Campus in person Hinxton, Cambridgeshire
Year(s) Of Engagement Activity 2022
URL https://coursesandconferences.wellcomeconnectingscience.org/event/molecular-neurodegeneration-and-th...
 
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 Multiple Media Interviews on latest drug release for Alzheimer's. 
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 17/07/23 Interviews following the announcement of the results of the drug trials on Donanemab whilst at the AAIC meeting in Amsterdam. AAIC Conference Amsterdam
1. BBC TV news
2. BBC Today Radio
3. BBC Radio Wales
4. Radio Scotland
5. Radio Northern Ireland
SEPARATE INTERVIEWS WITH JOURNALISTS Public Engagement
Year(s) Of Engagement Activity 2023
 
Description Muscle Study group UK and international 
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 Genetics and exome sequencing in Muscle Disease

Collaboration
Year(s) Of Engagement Activity 2013
 
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 New Scientist Invited 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 22/05/23 The future of Alzheimer's treatments Interview for feature sponsored by Eisai Michael Brooks - New Scientist Invited Interview
Year(s) Of Engagement Activity 2023
 
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 Pre-congress Course I - Advances in Research, Science & Treatment - Teaching 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact 04/07/23 Pre-symptomatic genetic testing in predicting PD 6th World Parkinson Congress in Barcelona Invitation On behalf of the Program Committee Pre-congress Course I - Advances in Research, Science & Treatment - Teaching
Year(s) Of Engagement Activity 2023
URL https://wpc2023.org/page/AboutCongress
 
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 Talk to Grand Rounds at Royal London Hospital 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Patients, carers and/or patient groups
Results and Impact Talk entitled: Genomic analysis suggests failing damage responses underlie diseases to the Grand Rounds of the Royal London Hospital
Year(s) Of Engagement Activity 2021
 
Description Teaching Lecture - PhD course "Biomarkers for neurodegenerative diseases" - 2021 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Invited teaching lecture entitled: Genetics in neurodegenerative diseases with Q&A afterwards
Year(s) Of Engagement Activity 2021
 
Description Teaching lecture UCL 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Genetics of Neurological diseases module GENE003 UCL
Year(s) Of Engagement Activity 2021
 
Description Teaching lecture UCL - 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 Teaching lecture - for the Clinical Neuroscience MSc 33 QS Lecture Theatre
Year(s) Of Engagement Activity 2022
 
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 What is the relationship between mendelian disease and sporadic disease (and how does the environment fit in?) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Third UCL Queen Square Motor Neuron Disease Centre International Symposium Lecture Theatre, 33 QS
Invited KEYNOYE Speaker
Year(s) Of Engagement Activity 2022
URL https://www.ucl.ac.uk/ion/events/2022/sep/third-ucl-queen-square-motor-neuron-disease-centre-virtual...
 
Description Where is genetics leading us: The future of genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact UCL Teaching lecture - Neuromuscular Disease MSc/MRes Advanced genetic technologies and clinical applications module
invited by David Blundred - Education Unit - Institute of Neurology
Year(s) Of Engagement Activity 2022
 
Description invited interview 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Interview to discuss the latest study in the Lancet which suggests By 2050, more than 153 million people could have dementia, up from 57 million in 2019, and that more than one in 50 people in Britain will be living with dementia by 2050.
Public knowledge
The interview in English, around 5min, aired on BBC World TV and ran several times in full.
As a reminder BBC world TV has more than 122 million viewers a week and in more than 200 countries. Their website receives more than a billion views a month
Year(s) Of Engagement Activity 2022
 
Description invited lecture 25th National Dementia Conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Industry/Business
Results and Impact presentation - Alzheimer's disease: from genetic analysis to mechanistic treatments, with Q&A Thursday 9th February
Year(s) Of Engagement Activity 2023
 
Description invited speaker - Understanding the endosomal pathway in neurodegeneration' 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Royal Society Hooke Discussion Meeting Organised by Professor Peter Cullen, Professor Peter St George-Hyslop FRS, Professor Scott Small and Dr Henne Holstege

Understanding the endosomal network in neurodegeneration
21 - 22 November 2022
The Royal Society, London and online
Year(s) Of Engagement Activity 2022
 
Description invited speaker 12th European Congress of Neuropathology 
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 entitled: Clues to the aetiology of neurodegenerative diseases from genomic analysis at 12th European Congress of Neuropathology
Year(s) Of Engagement Activity 2021
URL https://www.ecnp2020.dk/
 
Description invited speaker Scientific Steering Committee of the Global Symposium on Lysosomal Storage Disorders (GSLSD) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact 1. Deliver a presentation on the theme of "Mechanisms that underly the relationships between specific gene defects and nervous system dysfunction/damage"

2. • Participate in an interactive live Q&A and panel discussion related to the question "Why is there high phenotypic variability in patients with the same lysosomal storage diseases? Is this any different from other monogenic diseases?"

Scientific Steering Committee of the Global Symposium on Lysosomal Storage Disorders (GSLSD)
Year(s) Of Engagement Activity 2022
 
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
 
Description talk to first virtual Congress of the Neurological Association of South Africa 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Two lectures for the first virtual Congress of the Neurological Association of South Africa
1. Genetic analysis of Alzheimer's and Parkinson's disease, damage response failure as the underlying
problem of the disease
2. Genetic prediction of sporadic disease
Year(s) Of Engagement Activity 2021
URL https://www.nasacongresses.co.za/