Disease Model Discovery

Lead Research Organisation: MRC Mammalian Genetics Unit

Abstract

We remain ignorant of the function of the majority of genes in both the human and mouse genomes, and the roles they play in development, physiology and disease. Given the similarities between mouse and human and their respective genomes, one approach to understanding gene function in humans is to mutate the gene in the mouse and comprehensively study the characteristics (or phenotypes) that result from the mutation. A major focus of research at the MRC Harwell Institute is to undertake large-scale mutagenesis and phenotyping programmes to generate a comprehensive catalogue of mammalian gene function. MRC Harwell is a key participant in the International Mouse Phenotyping Consortium (IMPC) whose goals are to generate and characterise a mutant for every gene in the mouse genome. IMPC by the end of 2017 will have mutated and analysed around one-third of all the genes in the mouse genome. A particular focus at MRC Harwell and across other centres in the IMPC is to better identify and characterise genes that result in age-related disease. The burden on society from such diseases is increasing year on year and it is important that we address our limited understanding to develop new therapies and treatments. Many of the mutant lines studied by IMPC are being aged in order to find genes that when mutated cause age-related disease. MRC Harwell is studying a broad spectrum of diseases affecting quality of life in the aged, including deafness, diabetes and neurodegenerative diseases.

Technical Summary

The aim of the Disease Model Discovery programme is to generate novel mouse models of disease providing a key resource for the elucidation and characterisation of new genes and pathways involved with diverse disease systems. The programme delivers a critical underpinning to our intramural research programmes at MRC Harwell, as well as furnishing a wider platform for gene and pathway discovery for the biomedical sciences community within the UK and abroad. Currently, large-scale mutagenesis and phenotyping platforms at MRC Harwell focus on the International Mouse Phenotyping Consortium (IMPC) pipeline for the generation and identification of mouse models.
The IMPC mutagenesis and phenotyping pipeline is a key ongoing programme for the discovery of novel genes associated with both early-onset and late-onset disease phenotypes. However, there is an increasing focus on the delivery of late-onset phenotypes. Diseases associated with ageing pose an increasing social and financial burden on society and represent a vital imperative for research in the biomedical sciences. There have been considerable advances, for example through GWAS studies, in identifying putative loci and pathways involved in diseases of ageing. Nevertheless, our knowledge of the genes and pathways involved with late-onset disease is neither comprehensive nor complete. As part of MRC funding to Programme 1 over the next five years we plan to introduce over 100 genes into the IMPC pipeline encompassing both early-onset and late-onset phenotyping platforms. This effort will be supplemented by additional funding from the NIH which will enable us to feed a further ~200 genes into the IMPC pipeline for the determination of both early and late-onset phenotypes. Proposals for genes to enter late-onset phenotyping will be sought via the regular calls to the UK community for gene nominations as part of the wider IMPC effort at MRC Harwell. In line with the wider IMPC programme, all data is freely available and deposited in the IMPC database – see www.mousephenotype.org.
For the future the bulk of null mutations that enter the IMPC pipeline will be generated by CRISPR/Cas9. In addition, with funding from Strategy Board, the MRC has established the new GEMM (Genome Editing Mice for Medicine) programme at MRC Harwell, utilising the CRISPR/Cas9 route to introduce additional types of alleles, such as point mutations, enabling for example investigators to introduce and analyse human point mutations. This programme underpins the high demand across the human and clinical genetics communities for access to models of rare and Mendelian disorders. Moreover, it is an important pillar in the Genomics England and Precision Medicine Initiative in the US. MRC Harwell has established a collaboration with Genomics England and it is expected that many of the mutants generated in the GEMM programme will be pivotal in the validation and analysis of loci identified through the 100,000 genomes project.
In summary, Programme 1 at MGU Harwell is at the forefront of delivering mutants, disease models and data that are a critical pillar for functional genomics studies across the biomedical sciences spectrum and provide key resources for understanding the genetic bases for disease and an important tool for the development of novel therapeutic strategies.

Publications

10 25 50
publication icon
Acevedo-Arozena A (2008) ENU mutagenesis, a way forward to understand gene function. in Annual review of genomics and human genetics

publication icon
Banks GT (2011) Behavioral and other phenotypes in a cytoplasmic Dynein light intermediate chain 1 mutant mouse. in The Journal of neuroscience : the official journal of the Society for Neuroscience

publication icon
Barbaric I (2007) A new coat color mouse line for testing germline transmission of embryonic stem cells while retaining an inbred genetic background. in Journal of the American Association for Laboratory Animal Science : JAALAS

 
Description Brown report - Independent Investigation into Animal Research at Imperial College, London
Geographic Reach National 
Policy Influence Type Membership of a guidance committee
 
Description Chair, Action on Hearing Loss Pauline Ashley Fellowship Review Panel (2018-19)
Geographic Reach National 
Policy Influence Type Participation in a advisory committee
 
Description Chair, Advisory Board, UK Centre for Macaques
Geographic Reach National 
Policy Influence Type Participation in advisory committee
 
Description Chair, International Mouse Phenotyping Consortium (IMPC) Steering Committee
Geographic Reach Multiple continents/international 
Policy Influence Type Participation in advisory committee
 
Description Co-Chair, Scientific Advisory Board, Helmholtz Centrum, Munchen
Geographic Reach National 
Policy Influence Type Participation in advisory committee
 
Description GENCODE SAB
Geographic Reach Multiple continents/international 
Policy Influence Type Participation in a advisory committee
URL http://www.gencodegenes.org/
 
Description Medical Sciences Division Genomics Oversight Committee
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Membership of a guideline committee
 
Description Scientific Advisory Board, Czech Centre for Phenogenomics (CCP)
Geographic Reach Multiple continents/international 
Policy Influence Type Participation in a advisory committee
 
Description Scientific Advisory Board, Fondation De Cooperation Voir et Entendre
Geographic Reach National 
Policy Influence Type Participation in advisory committee
 
Description Scientific Advisory Board, Phenomin, Institut Clinique Souris, France
Geographic Reach Asia 
Policy Influence Type Participation in advisory committee
 
Description Scientific Advisory Committee, Centre Intégratif de Génomique (CIG), University of Lausanne
Geographic Reach National 
Policy Influence Type Participation in advisory committee
 
Description Scientific Advisory Committee, Centre Intégratif de Génomique (CIG), University of Lausanne
Geographic Reach National 
Policy Influence Type Participation in advisory committee
 
Description Special Advisor, Australian Phenomics Network
Geographic Reach Australia 
Policy Influence Type Participation in a advisory committee
 
Description Strategic Policy Committee, Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC), Strasbourg, France
Geographic Reach National 
Policy Influence Type Participation in advisory committee
 
Description UK-China Joint Steering Group - promoting scientific and technological innovation and cooperation in Laboratory Animal Science
Geographic Reach Multiple continents/international 
Policy Influence Type Membership of a guideline committee
 
Description Aged Rodent Bioresource
Amount £386,888 (GBP)
Funding ID 094270/Z/10/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2011 
End 06/2016
 
Description Centre Of Excellence in Osteoarthritis
Amount £4,500,000 (GBP)
Funding ID CA/20205 
Organisation Versus Arthritis 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2013 
End 01/2018
 
Description Characterization of a novel mouse model of ALS
Amount $23,000 (USD)
Organisation Johns Hopkins University 
Department The Robert Packard Center for ALS Research at Johns Hopkins
Sector Charity/Non Profit
Country United States
Start 09/2011 
End 08/2012
 
Description Create
Amount £53,500 (GBP)
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 11/2008 
End 10/2011
 
Description Disease Model Discovery
Amount £5,865,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 04/2015 
End 04/2020
 
Description EMMA Service
Amount £1,093,669 (GBP)
Organisation European Commission 
Department Seventh Framework Programme (FP7)
Sector Public
Country European Union (EU)
Start 01/2009 
End 12/2012
 
Description Eucomm
Amount £222,811 (GBP)
Funding ID 18931 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2006 
End 12/2012
 
Description Eumodic
Amount £793,928 (GBP)
Funding ID 37188 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 02/2007 
End 01/2012
 
Description Fluorescence lifetime imaging of new functional biomaterials for non-invasive early tumour diagnosis
Amount £50,000 (GBP)
Funding ID ST/K002082/1 
Organisation Science and Technologies Facilities Council (STFC) 
Sector Public
Country United Kingdom
Start 11/2012 
End 06/2013
 
Description Harwell MND model screen resource
Amount £10,000 (GBP)
Organisation Motor Neurone Disease Association (MND) 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2008 
End 06/2008
 
Description Harwell technology network
Amount £75,000 (GBP)
Organisation Intellectual Property Office (IPO) 
Sector Public
Country United Kingdom
Start 04/2011 
End 04/2012
 
Description Huntingtons disease
Amount £1,316,780 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 01/2007 
End 12/2011
 
Description IMPC
Amount £4,500,000 (GBP)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States
Start 01/2011 
End 01/2016
 
Description IMPC
Amount £3,000,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 01/2011 
End 01/2016
 
Description IMPC (MPI2)
Amount $5,120,596 (USD)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States
Start 08/2016 
End 07/2021
 
Description Infrafrontier
Amount £464,076 (GBP)
Funding ID 211404 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 03/2008 
End 12/2012
 
Description MRC ENU Mutagenesis Programme
Amount £8,000,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 03/2009 
End 03/2015
 
Description Mitochondria Proximity to Discovery
Amount £5,300 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 02/2016 
End 08/2016
 
Description Motor neuron disease mouse models
Amount £254,819 (GBP)
Funding ID 38/82 
Organisation Motor Neurone Disease Association (MND) 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2009 
End 08/2012
 
Description MouseAGE
Amount € 8,000,000 (EUR)
Funding ID BM1402 
Organisation European Research Council (ERC) 
Sector Public
Country Belgium
Start 12/2014 
End 12/2018
 
Description PhD studentship
Amount £69,000 (GBP)
Organisation University of Sheffield 
Department Sheffield Medical School
Sector Academic/University
Country United Kingdom
Start 09/2011 
End 09/2014
 
Description PhD studentship
Amount £110,000 (GBP)
Organisation Motor Neurone Disease Association (MND) 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2011 
End 09/2014
 
Description Summer Studentship
Amount £5,000 (GBP)
Organisation The Genetics Society 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2011 
End 08/2012
 
Description role of TDP43 in motor neurons through studying a unique Tdp43 mutant mouse
Amount € 100,000 (EUR)
Organisation Thierry Latran Foundation 
Sector Charity/Non Profit
Country France
Start 09/2009 
End 08/2011
 
Title Disease Model Discovery 
Description A new collection of mouse mutants, largely produced from the Harwell ENU mutagenesis pipeline, covering a plethora of novel disease models in a host of disease areas - neurology, neurodegeneration, behaaviour, metabolism (diabesity and obesity), bone, cardiovascular disease and sensory systems amongst others 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2006 
Provided To Others? Yes  
Impact A range of new publications has arisen. In addition, a number of new disease models are now available that are supporting translational research using these pre-clinical disease models. Models of age-related disease are now being developed as part of the Harwell ageing screen 
 
Title EuroPhenome 
Description A database of phenotypes produced in the EUCOMM consortium 
Type Of Material Biological samples 
Year Produced 2009 
Provided To Others? Yes  
Impact EuroPhenome has come to be regarded as a standard database for collecting and disseminating rich phenotypis data on mouse disease models 
URL http://europhenome.org/
 
Title Genetics and pathophysiology of deafness 
Description New mouse mutant models of deafness have been identified, archived and characterised to reveal novel pathways involved with sensorineural hearing loss and otitis media 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2006 
Provided To Others? Yes  
Impact Publications, distributed research material, as well as translational research supported through DGF grants from MRCT 
 
Title International Mouse Phenotyping Consortium, IMPC 
Description The International Mouse Phenotyping Consortium is undertaking the generation and phenotyping for mouse mutants for every gene in the mouse genome. This will provide the biomedical sciences community with the first catalogue of mammalian gene function, which will transform our understanding of genetic pathways involved with disease. 
Type Of Material Biological samples 
Year Produced 2012 
Provided To Others? Yes  
Impact A new mouse mutant resource is coming into being, and a wealth of phenotype data on mouse mutants is now becoming available at www.impc.org 
 
Title Shared Ageing Research Materials (ShARM) 
Description Wellcome funded biobank of tissues from ageing rodents 
Type Of Material Biological samples 
Year Produced 2011 
Provided To Others? Yes  
Impact Facilitated ageing research and acknowledgements in publications. 24085518 
URL https://www.sharmuk.org/
 
Title IMPC 
Description Phenotypic data generated by IMPC 
Type Of Material Database/Collection of data 
Year Produced 2013 
Provided To Others? Yes  
Impact International availability of primary phenotyping data 
URL http://www.europhenome.org/
 
Title Mousebook 
Description A data base of models and mutations with phenotyping data form the Harwell Ageing Screen 
Type Of Material Database/Collection of data 
Year Produced 2014 
Provided To Others? Yes  
Impact International profile of Harwell data 
URL http://mousebook.org/
 
Description Ageing Disease Pathways 
Organisation University of Liverpool
Department Institute of Integrative Biology
Country United Kingdom 
Sector Academic/University 
PI Contribution Generation of a conditional KO and developmental analysis of a global KO
Collaborator Contribution Idenitifcation of the gene as a imporant in ageing disease and in vivo analysis of the conditional KO
Impact Generation of a novel conditional KO and novel results on the developmental effects of the gene
Start Year 2013
 
Description Ageing Genetics 
Organisation University of Liverpool
Department Integrative Genomics of Ageing Group
Country United Kingdom 
Sector Academic/University 
PI Contribution Generation of a conditional knock-out of a gene associated with age-related pathologies
Collaborator Contribution identification of the gene and in vitro studies
Impact Recent collaboration. Genetics and bioinformatics
Start Year 2012
 
Description Ageing Muscle 
Organisation University of Reading
Department Skeletal Muscle Research Group
Country United Kingdom 
Sector Academic/University 
PI Contribution Collaborative research into ageing muscle. Identification of models with abnormal ageing muscle phenotypes.
Collaborator Contribution Expertise in msucle stem cell biology
Impact Publications arising PMIDs 22593017 26644908
Start Year 2011
 
Description Biology of ageing testes 
Organisation University of Edinburgh
Department MRC Centre for Reproductive Health
Country United Kingdom 
Sector Academic/University 
PI Contribution Generation of a conditional KO of a gene associated with age-related pathologies and provision of ageing control tissues
Collaborator Contribution expertise in reproductive biology
Impact The programme is at an early stage but initial results are expected early next year
Start Year 2013
 
Description Bone 
Organisation University of Oxford
Department Kennedy Institute of Rheumatology
Country United Kingdom 
Sector Academic/University 
PI Contribution ENU mutagenesis pipelines, phenotyping, and mouse genetics expertise
Collaborator Contribution expertise in bone mineralisation disorders
Impact A large number of mutations with bone disorders have been obtained and are being characterised. Further novel age-related mutants have been identified and are undergoing charaterisation and mapping. PMIDs 22028304 21533022 22161748 25860694 28194447 27959934 26657825
 
Description Cardiovascular 
Organisation University of Oxford
Department Wellcome Trust Centre for Human Genetics
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Provided ENU mutagenesis pipelines and expertise in mouse genetics
Collaborator Contribution expertise in mouse cardiovascular systems
Impact 18519639, 20566713
 
Description DVM project 
Organisation University of Nottingham
Department School of Veterinary Medicine and Science Nottingham
Country United Kingdom 
Sector Academic/University 
PI Contribution We are hosting a Wellcome funded DVM placement for two years, providing training and supervision for a research project.
Collaborator Contribution Administration of funding and training programme
Impact We are undertaking a screen for models of defective DNA repair and susceptibility to lymphomas
Start Year 2013
 
Description FSGS 
Organisation Washington University in St Louis
Country United States 
Sector Academic/University 
PI Contribution Data from novel model of FSGS, samples sent to US for analysis
Collaborator Contribution provision of expertise and advice, research reagents such as antibodies
Impact Project has advanced, to be written up later in the year
Start Year 2015
 
Description Glomerular Basement Membrane dysfunction 
Organisation Washington University in St Louis
Department Department of Cell Biology and Physiology
Country United States 
Sector Academic/University 
PI Contribution We have identified a novel mutation in Lama5 resulting in chronic kidney disease and we are working with Prof Jeff Miner to characterise this in detail
Collaborator Contribution Expertise in glomerular basement membrane biology and reagents
Impact JM has provided reagents to enable us to carry out experiments and we have sent samples to him for EM analysis
Start Year 2015
 
Description Liver 
Organisation Imperial College London
Country United Kingdom 
Sector Academic/University 
PI Contribution ENU mutagenesis pipelines and expertise in mouse genetics
Collaborator Contribution expertise in liver physiology and disease
Impact Identification of a novel mouse, the alcomouse, with high alcohol intake Idenitification of mice with increased sensitivity to paracetomol
 
Description Macrophage Function 
Organisation University of Oxford
Department Sir William Dunn School of Pathology
Country United Kingdom 
Sector Academic/University 
PI Contribution Provision of Mutant mice and genotypic characterisation of mutants
Collaborator Contribution Screening of macrophage function in mutant mice
Impact Novel Mutants affecting macrophage giant cell formation
Start Year 2006
 
Description Macrophage Signalling Pathways 
Organisation University of Oxford
Department Kennedy Institute of Rheumatology
Country United Kingdom 
Sector Academic/University 
PI Contribution Provision of mutant tissues for analysis, expertise in mutagenesis and mouse genetics
Collaborator Contribution Expertise in analysis of macrophage function
Impact Identification of mutations affecting macrophage signalling which are currently undergoing further charcterisation and mapping
Start Year 2008
 
Description Mitochondrial Dysfunction 
Organisation University of Oxford
Department Nuffield Department of Obstetrics & Gynaecology
Country United Kingdom 
Sector Academic/University 
PI Contribution We have identified mutants affecting mitochondrial function and giving rise to a number of phenotypes
Collaborator Contribution Expertise in the analysis of mitochondrial function
Impact Collaborative grant to fund meetings with industry
Start Year 2015
 
Description Neurodegeneration 
Organisation University of Cambridge
Country United Kingdom 
Sector Academic/University 
PI Contribution ENU mutagenesis and mouse genetics expertise in modifier screens
Collaborator Contribution expertise in Huntington's disease and cell biology systems for the study of HD
Impact Various modifier mutants, and interacting loci that are contributing to our understanding of HD pathways
Start Year 2006
 
Description Neurodegeneration 2 
Organisation University College London
Country United Kingdom 
Sector Academic/University 
PI Contribution ENU mutagenesis, mouse genetics expertise, particularly in modifier screens
Collaborator Contribution expertise in motor neuron disease and genetics
Impact identified modifiers which will be the subject of future work and publications
Start Year 2007
 
Description Neurodegeneration 3 
Organisation Medical Research Council (MRC)
Department MRC Laboratory of Molecular Biology (LMB)
Country United Kingdom 
Sector Academic/University 
PI Contribution ENU mutagenesis and expertise in modifier screens
Collaborator Contribution expertise in tauopathies
Impact Modifier screens are underway
Start Year 2007
 
Description Neuromuscular 
Organisation University of Edinburgh
Country United Kingdom 
Sector Academic/University 
PI Contribution ENU mutagenesis and mouse genetics expertise, as well as expertise in neuromuscular genetics
Collaborator Contribution expertise in the neuromuscular junction development
Impact 19683573 19578180
 
Description Novel models of Cardiac Disease 
Organisation Academic Medical Center
Country Netherlands 
Sector Academic/University 
PI Contribution We are undertaking a screen for novel models of cardiac disease. My group is undertaking ECG screening of mapping of mutant mice. providding genetics expertise.
Collaborator Contribution Providing expertise in cardiac electrophysiology and additonal phenotypic characterisation of mice
Impact We have identified a novel model of sudden cardiac death
Start Year 2013
 
Description Osteoarthritis 
Organisation University of Oxford
Department Kennedy Institute of Rheumatology
Country United Kingdom 
Sector Academic/University 
PI Contribution This was a collaborative proposal to the ARUK to Fund a Centre of Excellence in Osteoarthritis. The MGU contribution is to provide expertise in mouse genetics and model generation
Collaborator Contribution Provision of disease expertise, clinical studies and cohorts, and epidmiology
Impact Succesful award of the Centre of Excellence
Start Year 2012
 
Description Outbred Phenotyping 
Organisation University of Oxford
Department Wellcome Trust Centre for Human Genetics
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Importation and phenotyping of outbred mice for QTL analysis and identification of contributory alleles
Collaborator Contribution Genotyping and analysis of mapping data
Impact Nicod et al Genome-wide association of multiple complex traits in outbred mice by ultra-low coverage sequencing. Nature Genetics, 2016, 48 (8): 912 (PMID 27376238)
Start Year 2008
 
Description Renal Disease 
Organisation Imperial College London
Department Section of Renal and Vascular Inflammation
Country United Kingdom 
Sector Academic/University 
PI Contribution We are undertaking detailed mapping and characterisation of renal mutants an dinvestigating genetic modifiers of disease.
Collaborator Contribution Expertise in models of Renal Disease Dr Paul K Potter has been awarded an Honorary Senior Lectureship with Imperial College
Impact We have mapped a novel model of Alports syndrome and are charcterising and mapping two further mutations. We are submitting a Wellcome Trust Training Fellowship proposal to identify genetic modifers of Alport Disease
Start Year 2009
 
Description Renal GECIP 
Organisation Royal Free Hospital
Country United Kingdom 
Sector Hospitals 
PI Contribution Expertise in generation and analysis of mouse models of disease
Collaborator Contribution Expertise in clinical and basic renal research
Impact None yet
Start Year 2015
 
Description Uteroplacental 
Organisation University of Manchester
Country United Kingdom 
Sector Academic/University 
PI Contribution ENU mutagenesis, mouse genetics expertise
Collaborator Contribution Expertise in uteroplacental disorders
Impact Several potential mutants with defects in uteroplacental function have been identified
Start Year 2007
 
Description , American Society for Bone and Mineral Research 
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, Symposium, American Society for Bone and Mineral Research, Bone-omics: Translating Genomic Discoveries into Clinical Applications
Year(s) Of Engagement Activity 2017
 
Description 2nd European Advanced School for Mouse Phenogenomics 
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 Presentation and contribution to workshop - Dr Paul K Potter
Year(s) Of Engagement Activity 2017
 
Description 7th Molecular Pharmacology Workshop on Osteoarthritis 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited speaker- presented details of Ageing Screen programme and novel models of osteoarthrirtis
Year(s) Of Engagement Activity 2017
 
Description A history of genetics at MRC Harwell 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact A presentation to 50 members of the public at the Vale and dowland museum Wantage.

There was a great deal of interest and another presentation was requested for next year
Year(s) Of Engagement Activity 2013
 
Description Alport International Workshop 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact The presentation sparked discussion on appropriate models for research
Year(s) Of Engagement Activity 2014,2015
URL http://www.alportuk.org/
 
Description Animal Models for Therapeutic use 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presentations to industry researchers, interest in novel models
Year(s) Of Engagement Activity 2010,2011,2012
 
Description Annual Open day for schools 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? Yes
Geographic Reach Local
Primary Audience Schools
Results and Impact Local School Children (GCSE level) come on a day to do hands on lab work in our custom built teaching lab. They meet scientists and learn about our research.

These children have come back to do work experience in year 12 and summer studentships in their graduate studies. Some have come to do their Ph.D. subsequently.
Year(s) Of Engagement Activity 2006,2007,2008,2009,2010,2011
 
Description BBSRC working group 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Working group is formulating advice for BBSRC policy and funding of ageing research

Information gathering and policy advice
Year(s) Of Engagement Activity 2014
 
Description BSRA presentations 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Questions after presentations

Requests for further information
Year(s) Of Engagement Activity 2014
 
Description Botnar Institute presentation 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Discussions after talk and potential new collaborations

New interest in on-going research
Year(s) Of Engagement Activity 2014
 
Description British Science Festival 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Presentation at the BSF to a mixed audience of approximmately 40 people.

The talk was also videod and is avaiable on the understanding Animals in Research Website.
Year(s) Of Engagement Activity 2011
URL http://www.youtube.com/watch?v=1ORRLseGhlQ
 
Description British Science Festival Birmingham 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Interest and questions from participants

Questions from Audience demonstrated increased understanding
Year(s) Of Engagement Activity 2014
URL http://www.britishscienceassociation.org/british-science-festival/birmingham-2014
 
Description Careers Fair Kineton High School 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Questions about careers and research
Year(s) Of Engagement Activity 2015
 
Description Careers fair Shipston High School 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Questions about research
Year(s) Of Engagement Activity 2015
 
Description Cheltenham Science Festival 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Direct discussions with members of the public
Activities undertaken by memers of the public

Answering questions from the public and explaining processes behind research
Year(s) Of Engagement Activity 2014
URL http://www.cheltenhamfestivals.com/science/
 
Description Didcot Sixth Form 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Questions about science careers and research
Year(s) Of Engagement Activity 2015
 
Description Downs School Career Fair 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Lots of questions from pupils

better understanding of research careers
Year(s) Of Engagement Activity 2014
 
Description European Society of Human Genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Symposium Mouse phenotyping for clinical research, informed people on latest developments in mouse research
Year(s) Of Engagement Activity 2015
 
Description European Teratology Society 
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 at international meeting.
Year(s) Of Engagement Activity 2015
 
Description Harwell Genetics Course 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Training course in genetics: lots of interest and questions about techniques and research
Year(s) Of Engagement Activity 2015
 
Description Harwell Genetics Training Course 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Training course in mouse genetics, participants reported they had learnt a lot
Year(s) Of Engagement Activity 2015
 
Description Harwell Open Day 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? Yes
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Activity stands, DNA preparation

Direct engagement with public. Improved understanding of research carried out at Harwell
Year(s) Of Engagement Activity 2014
URL http://www.har.mrc.ac.uk/news-events/news-archive/harwell-campus-family-fun-day
 
Description Harwell Campus Science Up Close open day 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact Lots of questions and interest in research
Year(s) Of Engagement Activity 2015
 
Description I'm a Scientist (Ageing) 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Schools
Results and Impact Sara Falcone won prize
Year(s) Of Engagement Activity 2015
 
Description ICGEB Theoretical Course 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Lectures on Mouse Genetics; Models for Human Diseases. questions and interest in modelling disease
Year(s) Of Engagement Activity 2015
 
Description ICMR Reading University 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Presentation on ShARM and Mouse AGE projects
Year(s) Of Engagement Activity 2016
 
Description ICMR Reading university 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Research presentation at Reading university
Year(s) Of Engagement Activity 2015
 
Description INFRAFRONTIER Industry and Innovation workshop 
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, INFRAFRONTIER Industry and Innovation workshop, - Shared Ageing Research Materials and MouseAGE projects presented
Year(s) Of Engagement Activity 2017
 
Description International Ageing and Martix Conference of the Wellcome Trust Centre for Cell Matrix Research 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Invited keynote presentation to conference
Year(s) Of Engagement Activity 2015
 
Description Jerome S. Brody 2018 Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited presentation at Boston Medical School - Dr Paul K Potter
Year(s) Of Engagement Activity 2017
 
Description Keynote Lecture, 10th International Conference on Cholesteotoma and Ear Surgery 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Keynote lecture
Year(s) Of Engagement Activity 2016
 
Description Keynote Lecture, FELASA Congress 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Keynote Lecture
Year(s) Of Engagement Activity 2017
 
Description LASA winter meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Keynote Presentation
Year(s) Of Engagement Activity 2015
 
Description Larkmead School Career Fair 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Lots of questions

better understanding of research careers
Year(s) Of Engagement Activity 2014
 
Description London Matrix Group 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Extensive discussion afterwards and continued contact with new collaborators

This talk has led directly to two new collaborations
Year(s) Of Engagement Activity 2014
 
Description MRC Centenary Open Day 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact An Open day was organised with stalls displaying research areas, tours of facilities, activities, and presentations

~250 memebers of the public attended from children to U3A members
Year(s) Of Engagement Activity 2013
 
Description MRC Harwell Festival 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Open day festival
Year(s) Of Engagement Activity 2014,2016
URL http://www.har.mrc.ac.uk/mrc-festival
 
Description Magdalen College School Careers Fair 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Schools
Results and Impact MRC stand allowed students to question about careers

Better understanding of research careers
Year(s) Of Engagement Activity 2014
 
Description Magdalen College School, Headington School 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Questions about research careers
Year(s) Of Engagement Activity 2015
 
Description Mellanby Centre for Bone Research 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Invited Speaker - research presentation
Year(s) Of Engagement Activity 2016
 
Description Mellanby Centre for Bone Research 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Presentation to researchers in Sheffield. Young researchers Q+A session about career pathways and advice. New collaboration over bone uCT
Year(s) Of Engagement Activity 2015
 
Description MouseAGE Training Course 
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 Organised training course on the use of mice in ageing, much discussion and follow up. feedback was very positive eg very informative workshop
Year(s) Of Engagement Activity 2015
 
Description MouseAGE training School 
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 Training school for MouseAGE members of the use of mice in ageing studies. Tours of facilities and lectures
Year(s) Of Engagement Activity 2015
 
Description NC3Rs working group 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Currently preparing paper for release. Expected to have international impact

Paper for publication. Advice to NC3Rs
Year(s) Of Engagement Activity 2013,2014
 
Description Oulu Post Gradaute Training Course 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Contributed to training course with research presentation and careers advice
Year(s) Of Engagement Activity 2012
 
Description Oxford NC3Rs Day 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Invited speaker at NC3Rs meeting
Year(s) Of Engagement Activity 2017
 
Description Oxford NC3Rs day 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Presentation by Dr Paul K Potter at NC3Rs workshop on Ageing studies in mice
Year(s) Of Engagement Activity 2017
 
Description Oxfordshire Science Festival-Bonn Square, Oxford 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Better understanding of brain function and dementia

increased interest in genetics research
Year(s) Of Engagement Activity 2010,2011,2012,2013,2014
URL http://www.oxfordshiresciencefestival.com/about.html
 
Description Presentation at Reading University 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Research presentation led to new collaborations and connections
Year(s) Of Engagement Activity 2015
 
Description Presentation at Renal Research Forum 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Interest in current research
Year(s) Of Engagement Activity 2015
 
Description Presentation at Royal Free 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Research presentation resulted in new collaborations
Year(s) Of Engagement Activity 2015
 
Description Presentation at University of Sheffield 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Presentation to Mellanby Centre for Bone Research, presented to research professionals and students. Discussion with students on careers resulted in interest in variety of career paths and advice on progression. Interest in starting new collaborations
Year(s) Of Engagement Activity 2016
 
Description RIKEN Symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Advance of Mouse Phenotyping for Biomedical Research, RIKEN Symposium, Yokohama, Japan
Year(s) Of Engagement Activity 2015
 
Description Radio 5 Live 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact Live broadcast from the Mary Lyon Centre on national radio

The programme recieved an industry award
Year(s) Of Engagement Activity 2013
 
Description Renal Research Forum 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Research presentation to mainly clinical renal researchers at Imperial College
Year(s) Of Engagement Activity 2015
 
Description Scouts visit to MRC Harwell 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Making DNA and hands on activity resulted in a better understanding of genetics research


Sparked interest and questions
Year(s) Of Engagement Activity 2014
 
Description St Birinus School visit to Harwell 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Plenty of discussion and questions

better understanding of research infrastructure and model studies
Year(s) Of Engagement Activity 2014
 
Description Students@Harwell committee poster competition 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Exchange of information and expertise surrounding research on site
Year(s) Of Engagement Activity 2015
 
Description Swiss Lab Animal Science Association 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presentation by Dr Paul K Potter to Animal Sciences group on studying ageing mice
Year(s) Of Engagement Activity 2017
 
Description U3A visit 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact U3A visit to learn more about research on site
Year(s) Of Engagement Activity 2017
 
Description UAR Open Labs for Didcot Girls' School 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Stimulated questions about animal research and provided information
Year(s) Of Engagement Activity 2015
 
Description UCL Centre for Nephrology 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Research presentation at the Royal Free Hospital
Year(s) Of Engagement Activity 2015
 
Description University of the Third Age and Probus Club 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Presentations and practical demonstrations to visitors

Great interest in return visits
Year(s) Of Engagement Activity 2011
 
Description Womens Institute Talks 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Several presentations to Womens Instiute goups, including local groups and a presentation to the Annual Meeting

The intial presentation has led to further request for local presentations and visits of the WI to MRC Harwell
Year(s) Of Engagement Activity 2008,2009,2010,2011