Physiological Genomics and Medicine

Lead Research Organisation: MRC London Institute of Medical Sciences

Abstract

The research of the Physiological Genomics and Medicine Group uses information and technologies from the Human Genome Project to improve understanding of the molecular basis of common diseases and to find new ways of diagnosing these disorders and predicting which individuals will develop them. The approaches used have found new genes underlying the common Metabolic Syndrome which predisposes to late-onset diabetes and coronary heart disease, and also showed that variation in the number of gene copies carried by an individual can be a cause of kidney failure in the common human condition systemic lupus. These findings suggest new ways of disease diagnosis and new targets for drug therapy of these conditions.

Technical Summary

The research of the Physiological Genomics and Medicine Group has combined the use of classical genetics with genome technologies for gene discovery and understanding of gene function in common human disorders including the metabolic syndrome, systemic lupus and autoimmune glomerulonephritis. Several years ago we pioneered a new approach for identification of complex trait genes, combining the classical genome-screen technique with new DNA microarray technology for global measurement of gene expression. The approach led us to identify a defective gene, Cd36, that causes insulin resistance and hypertriglyceridaemia in spontaneously hypertensive rats (Aitman et al 1999, Nature Genet 21:76-83). Cd36 is one of the first genes for a complex mammalian trait to be identified in a genetic linkage study. Following these results, we defined an evolutionary role for the Cd36 gene in African and Asian populations (Aitman et al 2000, Nature 405:1015-1016) and used mutation screening to identify the first family in whom type 2 diabetes is caused by Cd36 deficiency. More recently we have used gene expression profiling, linkage analysis and bioinformatics to identify control points and gene networks in the Metabolic Syndrome (Hubner et al 2005, Nature Genet 37:243-53).In the last year, we have carried out genetics studies of autoimmune glomerulonephritis and have shown that a new type of genomic sequence variation, gene copy number variation, is a cause of autoimmune glomerulonephritis in rats and in the common human disease systemic lupus erythematosus (Aitman et al 2006, Nature 439:951-5). This is the first description of structural variation in the genome as a cause of autoimmune disease and has led many laboratories across the world to test for structural variation in other autoimmune disorders.||The outcome of these studies has considerable potential impact on clinical practice. The positional cloning of genes for common human diseases such as metabolic syndrome and autoimmune glomerulonephritis, and the finding of new types of genomic sequence variation as a cause of autoimmune diseases has led to the search for new diagnostic tests based on the genes and allelic variants identified. We are now using new genomic techniques including high throughput genotyping, sequence detection and microarray-based measures of gene expression and gene copy number. In addition, the systems approaches we have taken to defining disease states such as hypertension and dyslipidaemia are an example of new strategies for drug development that focus on regulatory pathways as well as individual genes.
 
Description House of Lords Genomic Medicine Inquiry
Geographic Reach National 
Policy Influence Type Gave evidence to a government review
Impact TAitman was appointed as Specialist Advisor to the House of Lords Genomic Medicine Inquiry in February 2008. he organised the briefing seminar for the committee of 12 peers and 40 external experts. TAitman advised the House of Lords Committee on suitable witnesses and questions (June 2008-January 2009) including questions for Ministers from the Department of Health and DIUS. The House of Lords Genomic Medicine Report was published in 2009. TAitman as Specialist Advisor briefed a number of media organisations included the Daily Telegraph, the Times and the BBC and the Report has been recognised as having National and International significance, with the Public Health Genomic Foundation stating that this is "a Report that the Government cannot afford to ignore".
 
Description Human Genetics Commission
Geographic Reach National 
Policy Influence Type Membership of a guidance committee
Impact Tim Aitman in February 2008 as Commissioner in the Human Genetics Commission, the Ministerial Advisory Body on Developments in Genetics.
 
Description Public Health Genomics Foundation
Geographic Reach National 
Policy Influence Type Participation in a national consultation
Impact The PHG Foundation regularly publishes reports on national importance and co-wrote with myself a review of diagnostic services in familial hypercholesterolaemia (FH). Also co-organised national meeting on FH that altered national policy.
 
Description Sir Jules Thorn Charitable Trust
Geographic Reach National 
Policy Influence Type Participation in advisory committee
Impact I chair the Sir Jules Thorn Medical Advisory Committee, responsible for awards of > £6M in research funding since start of my chair membership.
 
Description BBSRC (The exploitation of genetic variation in gene network inference)
Amount £105,000 (GBP)
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start 10/2007 
End 09/2010
 
Description British Heart Foundation Centre of Excellence (PI M Schneider)
Amount £9,000,000 (GBP)
Organisation British Heart Foundation (BHF) 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2009 
End 01/2014
 
Description Capital Investment Award (Imperial College London/Healthcare NHS Trust)
Amount £195,000 (GBP)
Organisation Imperial College Healthcare NHS Trust 
Sector Hospitals
Country United Kingdom
Start 10/2009 
End 03/2010
 
Description EURATRANS European large-scale functional genomics in the rat for translational research (10.5m euros across 19 participants)
Amount £526,000 (GBP)
Funding ID 241504 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 04/2009 
End 09/2014
 
Description EURATools European Rat Tools for Functional Genomics (11m euros across 17 participants)
Amount £1,378,000 (GBP)
Funding ID 19015 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 03/2006 
End 08/2010
 
Description Establishment of a Laboratory for Molecular Pathology Research
Amount £1,950,000 (GBP)
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start 09/2009 
End 03/2010
 
Description European Research Council
Amount £2,000,000 (GBP)
Organisation European Research Council (ERC) 
Sector Public
Country European Union (EU)
Start 10/2011 
End 12/2016
 
Description Fondation Leducq funding (Integrative Networks Regulating Cardiomyocyte Metabolism)
Amount £923,266 (GBP)
Organisation The Leducq Foundation 
Department Integrative Networks Regulating Cardiomyocyte Metabolism and Survival in Heart Failure and Insulin Resistance
Sector Charity/Non Profit
Country France
Start 10/2006 
End 10/2011
 
Description Imperial College London/Healthcare NHS Trust (Application of next generation sequencing to Molecular diagnostics and pathology)
Amount £265,000 (GBP)
Organisation Imperial College Healthcare NHS Trust 
Sector Hospitals
Country United Kingdom
Start 01/2010 
End 09/2011
 
Description Investigation of the genetic basis of autoimmunity using high-throughput sequencing and analysis of copy number variation
Amount £209,000 (GBP)
Funding ID 085260 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2008 
End 05/2011
 
Description LeDucq Foundation
Amount £600,000 (GBP)
Organisation The Leducq Foundation 
Sector Charity/Non Profit
Country France
Start 12/2011 
End 12/2017
 
Description MRC Research Grant (Genetic influences underlying impulsivity and Risk for drug addiction)
Amount £273,000 (GBP)
Funding ID G0802729 
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 03/2009 
End 03/2011
 
Description Role of a novel Fcgr3 gene in macrophage activation and glomerulonephritis
Amount £400,000 (GBP)
Organisation Gilead Sciences, Inc. 
Department Gilead
Sector Private
Country United Kingdom
Start 03/2007 
End 03/2010
 
Description Wellcome Trust Clinical Reseach Training - Fellowship for Dr Richard Hull
Amount £212,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2008 
End 09/2011
 
Description Wellcome Trust Project Grant (Copy number variation on chromosome 1q23 and autoimmunity)
Amount £753,452 (GBP)
Funding ID 083167 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2007 
End 10/2010
 
Title MiMiR, eQTL explorer 
Description Genomic databases have been established for visualisation analysis and sharing of microarray data (MiMiR) expression quantitative traits data (eQTL explorer). Open source analysis of gene expression data (EMASS) and whole genome sequence data visualisation and, analysis and sharing (SHR base). 
Type Of Material Database/Collection of Data/Biological Samples 
Provided To Others? No  
Impact Genomic databases have been established for visualisation analysis and sharing of microarray data (MiMiR) expression quantitative traits data (eQTL explorer). Open source analysis of gene expression data (EMASS) and whole genome sequence data visualisation and, analysis and sharing (SHR base). 
 
Description BHF 
Organisation Imperial College London
Department National Heart & Lung Institute (NHLI)
Country United Kingdom 
Sector Academic/University 
PI Contribution Multi-disciplinary study of genomics and epigenomics of cardiovascular diseases.
Collaborator Contribution Supply of resources of reagents for epigenetic studies of the heart in hypertension and cardiac hypertrophySupply of resources and reagents for epigenetic studies of the heart in hypertension and cardiac hypertrophy
Impact Multi-disciplinary study of genomics and epigenomics of cardiovascular diseases.
Start Year 2010
 
Description BHF 
Organisation Imperial College London
Department National Heart & Lung Institute (NHLI)
Country United Kingdom 
Sector Academic/University 
PI Contribution Multi-disciplinary study of genomics and epigenomics of cardiovascular diseases.
Collaborator Contribution Supply of resources of reagents for epigenetic studies of the heart in hypertension and cardiac hypertrophySupply of resources and reagents for epigenetic studies of the heart in hypertension and cardiac hypertrophy
Impact Multi-disciplinary study of genomics and epigenomics of cardiovascular diseases.
Start Year 2010
 
Description Dalley 
Organisation University of Cambridge
Department Behavioural and Clinical Neuroscience Institute
Country United Kingdom 
Sector Public 
PI Contribution New collaboration with Dr J Dalley, University of Cambridge on Genetic analysis of drug addiction leading to strategic Grant Award by MRC
Collaborator Contribution Supplying biological material, phenotype data and gene expression data.
Impact Total Award £273,000)
Start Year 2009
 
Description EURATRANS 
Organisation Helmholtz Association of German Research Centres
Department The Max Delbrück Center for Molecular Medicine (MDC)
Country Germany 
Sector Academic/University 
PI Contribution Tim Aitman is member of Steering Committee and Chair of Data Integration Group.
Impact Award €10.5M.
Start Year 2006
 
Description EURATools 
Organisation Helmholtz Association of German Research Centres
Department The Max Delbrück Center for Molecular Medicine (MDC)
Country Germany 
Sector Academic/University 
PI Contribution Coordination of 17 partner institutes in Europe and China for EURATools integrated project Tim Aitman is principal investigator and coordinator.
Collaborator Contribution Expertise and biological samples for genome studies.
Impact Award €11M
Start Year 2006
 
Description European Research Council 
Organisation Medical College of Wisconsin
Department Department of Physiology
Country United States 
Sector Academic/University 
PI Contribution Genome sequences and functional genomics of common cardiovascular autoimmune diseases
Collaborator Contribution Supply of transgenic & gene targetting protocols
Impact Genome sequences of 10 mammalian models generated. Manuscripts in preparation.
Start Year 2011
 
Description Imperial College London/Healthcare NHS Trust 
Organisation Imperial College London
Department Faculty of Medicine
Country United Kingdom 
Sector Academic/University 
PI Contribution Application of next generation sequencing to Molecular Diagnostics and Pathology
Collaborator Contribution Development of new assays for Molecular Pathology in collaboration with colleagues in the Imperial Academic Health Sciences Centre.
Impact Award £265
Start Year 2010
 
Description Le Ducq No. 2 
Organisation Austrian Academy of Sciences
Department Institute of Molecular Biotechnology
Country Austria 
Sector Academic/University 
PI Contribution Transatlantic Network of Excellence Program "Genomic, Epigenomic & Systems Dissection of Mechanisms Underlying Dilated Cardiomyopathy"
Collaborator Contribution Supply of reagents and resources for epigenetic studies of cardiomyopathySupply of reagents and resources for epigenetic studies of cardiomyopathy
Impact £600,000
Start Year 2011
 
Description Le Ducq No. 2 
Organisation Harvard University
Department Harvard Medical School
Country United States 
Sector Academic/University 
PI Contribution Transatlantic Network of Excellence Program "Genomic, Epigenomic & Systems Dissection of Mechanisms Underlying Dilated Cardiomyopathy"
Collaborator Contribution Supply of reagents and resources for epigenetic studies of cardiomyopathySupply of reagents and resources for epigenetic studies of cardiomyopathy
Impact £600,000
Start Year 2011
 
Description LeDucq 
Organisation Beth Israel Deaconess Medical Center
Country United States 
Sector Hospitals 
PI Contribution Establishment of Transatlantic Network of Excellence with 3 Partners for Harvard Medical School as part of a LeDucq Transatlantic Network of Excellence.
Collaborator Contribution Expertise and data relating to metabolic and genetic studies of the myocardium.
Impact Award €6M
Start Year 2006
 
Description Moving beyond the SHR Genome - BHF CoRE SAB 
Organisation University of Edinburgh
Department Centre for Cardiovascular Science
Country United Kingdom 
Sector Academic/University 
PI Contribution We are members of the University of Edinburgh Centre for Cardiovascular Research Science Faculty.
Collaborator Contribution Centre lecture coordination, short-term fellowship for career development fellow.
Impact No impact yet
Start Year 2014
 
Description NIHR 
Organisation National Institute for Health Research
Department NIHR Imperial Biomedical Research Centre
Country United Kingdom 
Sector Academic/University 
PI Contribution Collaboration with multiple investigators at Imperial College leading to Award by Imperial College Biomedical Research Centre and National Institute of Health Research for establishment of molecular pathology at IC Academic Health Sciences Centre.
Collaborator Contribution Expertise, case material and laboratory infrastructure in molecular pathology.
Impact Award of £2.2M
Start Year 2009
 
Description Renal 
Organisation Imperial College Healthcare NHS Trust
Department Renal Medicine
Country United Kingdom 
Sector Hospitals 
PI Contribution Collaboration with the Department of Renal Medicine at Imperial College leading to successful Wellcome Trust Project Grant application.
Collaborator Contribution Expertise and in vivo studies of glomerulonephritis.
Impact Award £400,000
Start Year 2007
 
Description Tim Vyse 
Organisation University of Oxford
Department Kennedy Institute of Rheumatology
Country United Kingdom 
Sector Academic/University 
PI Contribution Collaboration with Professor Tim Vyse, Imperial College on gene copy number variation. Successful project grant application to Wellcome Trust.
Collaborator Contribution The contribution made by me under successful Project Grant application to Wellcome Trust genome sequencing analysis and interpretation on multiple individuals with SLE. Contributions by partner supplied SLE cases and carried out functional studies.
Impact Award £750,000
Start Year 2007
 
Title Gene Panel for Familial Hypercholesterolaemia 
Description A new method for mutation screening using next generation sequencing in familial hypercholesterolaemia was developed and validated and shown to be used for in a clinical context, both for specialised lipid clinic patients and for primary care population. 
IP Reference INSUFFICIENT INFORMATION 
Protection Patent application published
Year Protection Granted 2013
Licensed No
Impact No other impacts.
 
Title Use of JunD as a modulator of autoimmune disease 
Description MRC Technology sponsored a patent filing on the use of JunD as a modulator of autoimmune disease. This work is ongoing following an initial patent filing. Further work by the Aitman work in collaboration with that of Dr Stuart Cook (MRC Clinical Sciences Centre and IC) is being considered for patent filing in relation to modulation of cardiac hypertrophy. 
IP Reference US2010266579 
Protection Patent application published
Year Protection Granted 2010
Licensed No
Impact MRC Technology sponsored a patent filing on the use of JunD as a modulator of autoimmune disease. This work is ongoing following an initial patent filing. Further work by the Aitman work in collaboration with that of Dr Stuart Cook (MRC Clinical Sciences Centre and IC) is being considered for patent filing in relation to modulation of cardiac hypertrophy.
 
Title Assay Development - Cardiovascular Diseases 
Description Molecular diagnosis of familial hypercholesterolaemia and statin toxicity on next generation sequencing 
Type Diagnostic Tool - Non-Imaging
Current Stage Of Development Early clinical assessment
Year Development Stage Completed 2013
Development Status Under active development/distribution
Clinical Trial? Yes
Impact The assay development and associated meetings organised stimulated policy change in this area by the National Clinical Director for Heart Disease, with new national initiatives for diagnostic testing. 
URL http://public.ukcrn.org.uk/Search/StudyDetail.aspx?StudyID=12449
 
Title Molecular Pathology Group 
Description Tim Aitman founded the Imperial Molecular Pathology Group which has won significant funds from the National Institute of Health Research (£1.95M) for capital investment to establish new molecular tests in the NHS, for example using next generation sequencing for clinical mutation detection in inherited diseases, and using other DNA and RNA-based tests 
Type Diagnostic Tool - Non-Imaging
Current Stage Of Development Early clinical assessment
Year Development Stage Completed 2010
Development Status Under active development/distribution
Impact Tim Aitman founded the Imperial Molecular Pathology Group which has won significant funds from the National Institute of Health Research (£1.95M) for capital investment to establish new molecular tests in the NHS. A new molecular pathology laboratory has been re-furbished and equipped and will open fully early in 2011. 
 
Title Molecular Pathology Group - Assay Development 
Description Development of assays for mutation screening in cardiovascular and metabolic diseases using next generation sequencing. 
Type Diagnostic Tool - Imaging
Current Stage Of Development Early clinical assessment
Year Development Stage Completed 2010
Development Status Under active development/distribution
Impact Tim Aitman founded the Imperial Molecular Pathology Group which has won significant funds from the National Institute of Health Research (£1.95M) for capital investment to establish new molecular tests in the NHS. This investment is now yielding clinically useful assays, as above. 
 
Description Co-Organiser 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Invited speaker - Genomics of Common Diseases 2010

N/A
Year(s) Of Engagement Activity 2010
 
Description Co-Organiser, Session Chair, Speaker 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Co-Organiser, Session Chair, Speaker - Genomic of Common Diseases

N/A
Year(s) Of Engagement Activity 2009
 
Description Co-organiser/Invited speaker - Lipoprotein 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Type Of Presentation Keynote/Invited Speaker
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact London
May 2012
Talk title "Familial hypercholesterolaemia - recent advances in genetic analysis"

N/A
Year(s) Of Engagement Activity 2012
 
Description Distinguished speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker - Mount Sinai School of Medicine

N/A
Year(s) Of Engagement Activity 2010
 
Description House of Lords 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Tim Aitman organised and gave a lecture on Genomic Medicine at the House of Lords to the Genomic Medicine Inquiry.

House of Lords Genomic Medicine Report
Year(s) Of Engagement Activity 2008
 
Description Invited Spaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - The University of Nottingham

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Rat Genomics & Models - Cold Spring Harbor

N/A
Year(s) Of Engagement Activity 2009
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker - Reserach Directorate General of the European Commission

N/A
Year(s) Of Engagement Activity 2010
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - 4th International Conference on Biological Pathways, Networks and Systems

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Experimental Biology

N/A
Year(s) Of Engagement Activity 2007
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker at Cardiovascular Research Institute Maastricht (CARIM)

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker

N/A
Year(s) Of Engagement Activity 2011
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker - Berlin Summer Meeting

N/A
Year(s) Of Engagement Activity 2010
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Genome Institute fo Singapore

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - University of Oxford - Department of Physiology, Anatomy and Genetics

N/A
Year(s) Of Engagement Activity 2009
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - rat Genomic and Model Meeting

N/A
Year(s) Of Engagement Activity 2008
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Invited Speaker

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker

N/A
Year(s) Of Engagement Activity 2011
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - 22nd International Mammalian Genome Conference

N/A
Year(s) Of Engagement Activity 2008
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact EuReGene Symposium on Complex (renal) Genetics

N/A
Year(s) Of Engagement Activity 2008
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - UK Department Seminars at University of Cambridge

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker - British Heart Foundation Symposium

N/A
Year(s) Of Engagement Activity 2010
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - 36th Annual Conference of Endocrine Society of India (ESICON)

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Invited Speaker

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - European Human Genetics Conference

N/A
Year(s) Of Engagement Activity 2008
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker

N/A
Year(s) Of Engagement Activity 2011
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - UK NEQAS

N/A
Year(s) Of Engagement Activity 2009
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - National Academies Roundtable Discussion - Direct to Consumer Genetic Testing

N/A
Year(s) Of Engagement Activity 2009
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker at the MRC Human Genetics Unit

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - The Endocrine Society

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker

N/A
Year(s) Of Engagement Activity 2011
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - 3rd Australian Health and Medical Research Congress

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - St George's University of London

N/A
Year(s) Of Engagement Activity 2010
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Cold Spring Harbor - Biology of Genomes

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker -Structural Variation in the Human Genome

N/A
Year(s) Of Engagement Activity 2009
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - CEPH Meeting - 25th anniversary symposium for the Foundation Jean-Dauset on Genomics & Medicine

N/A
Year(s) Of Engagement Activity 2009
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker

N/A
Year(s) Of Engagement Activity 2011
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Bart's and the London Hospital

N/A
Year(s) Of Engagement Activity 2007
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - British Cardiac Society - Annual Scientific Conference

N/A
Year(s) Of Engagement Activity 2007
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - The International EASD Satellite Symposium - Genomics of Hyperglycaemia

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - North American Vascular Biology Meeting

N/A
Year(s) Of Engagement Activity 2009
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Genomic Disorders 2009

N/A
Year(s) Of Engagement Activity 2009
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Frontiers in Renal Science: Genetics, Inflammation and Repair

N/A
Year(s) Of Engagement Activity 2007
 
Description Invited Speaker 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker

N/A
Year(s) Of Engagement Activity 2011
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Keystone Symposium - Molecular Pathways in Cardiac Development and Disease

N/A
Year(s) Of Engagement Activity 2007
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - 13th International SHR Symposium

N/A
Year(s) Of Engagement Activity 2008
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - HUGO

N/A
Year(s) Of Engagement Activity 2007
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - British Society for Human Genetics

N/A
Year(s) Of Engagement Activity 2007
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - International Symposium on Applied Genomics (ISAG 2006)

N/A
Year(s) Of Engagement Activity 2006
 
Description Invited Speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited Speaker - Rat Genome Assembly Meeting, Sanger Institute

N/A
Year(s) Of Engagement Activity 2007
 
Description Invited Speaker - University of Adelaide 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Participants in your research and patient groups
Results and Impact March 2012
University of Adelaide
Talk title "New Genome Technologies in (Epi)genetics Research and Clinical Practice

N/A
Year(s) Of Engagement Activity 2012
 
Description Invited Speaker - Annual HUGO Meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Annual HUGO Meeting
March 2012
Talk Title "Genome-scale investigation of the genetic control of the epigenome"


N/A
Year(s) Of Engagement Activity 2012
 
Description Invited Speaker - BHF 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact British Heart Foundation Medical Division Away Day
London - August 2013
"New genome technologies for diagnosis of patients with familial hypercholesterolaemia"
This was a key note presentation for the Medical Division Away Day for the British Heart Foundation. 120 members of the British Heart Foundation and other invited investigators attended.

The invited talk and the surrounding activity with the British Heart Foundation led to a call for applications by the British Heart Foundation for £1.5M of funding for cascade nurses for the diagnosis of Familial Hypercholesterolaemia.
Year(s) Of Engagement Activity 2013
 
Description Invited Speaker - Euratrans 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Participants in your research and patient groups
Results and Impact Tutzing, Germany
June 2012
Talk title "Sequence analysis of the genomes of 28 rat strains"

N/A
Year(s) Of Engagement Activity 2012
 
Description Invited Speaker - European Renal Cell Study Group 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Scientific investigators attended the meeting held in
Oxford, March 2013

Collaborative links strenghened with Imperial College and other colleagues and new genetic studies project initiated.
Year(s) Of Engagement Activity 2013
 
Description Invited Speaker - FARGEN 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Policymakers/politicians
Results and Impact FARGEN (Faroe Genome Project) Summit
Faroe Islands
September 2013
"Genetic control of the mammalian methylome"
Over 120 Faroe Islands and International delegates attended to debate and discuss the Faroe Islands Genome Sequencing Project in which all 50,000 inhabitants of the Faroe Islands will have their genome sequenced.

Collaborative links were established for epigenetics and genetic studies of the Faroe Islands populations.
Year(s) Of Engagement Activity 2013
URL http://www.fargen.fo/en/
 
Description Invited Speaker - FEAM 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Policymakers/politicians
Results and Impact Dublin May 2013
Talk title "Personalised Medicine and Genomics - The Health and Health Economics Impact"


A summary of my talk was included in a Europe-wide policy document and connections established resulting in a major fund allocation collaboration with the Chair of the German Academy of Medicine Sciences.
Year(s) Of Engagement Activity 2013
URL http://www.feam.eu.com
 
Description Invited Speaker - Friends of Imperial College 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact February 2012
Talk title "The Human Genome and 21st Century Practice of Medicine"
London, UK

N/A
Year(s) Of Engagement Activity 2012
 
Description Invited Speaker - IC Institute of Biomed Eng 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Type Of Presentation Keynote/Invited Speaker
Geographic Reach Local
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Crick liaison meeting
March 2012
Talk title "Whole genomes and epigenomes for analysis of complex traits"

N/A
Year(s) Of Engagement Activity 2012
 
Description Invited Speaker - Illumina 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Type Of Presentation Keynote/Invited Speaker
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Barcelona
June 2012
Talk title "Targeted mutation detection and whole epigenome sequencing on the Illumina Platform"

New collaborations established
Year(s) Of Engagement Activity 2012
 
Description Invited Speaker - NGS 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact NGS 2013 - Applications & Bottlenecks
Manchester - November 2013
"Implementing NGS in research and the clinic"
This was an invited keynote presentation for a meeting organised by the events company Biotexcel for informing researchers and other academics on the capabilities of genome sequencing. Questions and discussions raised the possibility of future discussions.

Biotexcel indicated they would welcome further presentations at future meetings organised by Biotexcel.
Year(s) Of Engagement Activity 2013
URL http://www.biotexcel.com
 
Description Invited Speaker - Understand your Genome 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Keynote/Invited Speaker
Geographic Reach International
Primary Audience Health professionals
Results and Impact Understand Your Genome Symposium
Buckinghamshire, UK
September 2013
This conference was organised by the biotechnology company Illumina. 30 senior academic and clinical investigator and physicians attended for the purpose of receiving their genome sequence results and understanding the interpretation of these data. This was a landmark meeting, the first outside the USA of its type, to enhance public understanding of genomic medicine.

This meeting has stimulated a dramatic growth in genome sequencing. 15 further Understand Your Genome meetings are now planned across Europe, Australasia and the Americas.
Year(s) Of Engagement Activity 2013
 
Description Invited Speaker - Univ of Adelaide 
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 March 2012
Talk title "New Genome Technologies in (Epi)genetics Research and Clinical Practice"

N/A
Year(s) Of Engagement Activity 2012
 
Description Invited Speaker for Friends of Imperial College 
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 February 2012
Title "The Human Genome and 21st Century Practice of Medicine"

Invited speaker
Year(s) Of Engagement Activity 2012
 
Description Invited speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker - Kyoto University

N/A
Year(s) Of Engagement Activity 2010
 
Description Invited speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker

N/A
Year(s) Of Engagement Activity 2011
 
Description Invited speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker - Human Genome Meeting (HUGO)

N/A
Year(s) Of Engagement Activity 2010
 
Description Invited speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker - Wellcome Trust Centre for Human Genetics

N/A
Year(s) Of Engagement Activity
 
Description Invited speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Public/other audiences
Results and Impact Invited speaker - Centre for Integrative Mammalian Physiology & Pharmacology

N/A
Year(s) Of Engagement Activity 2010
 
Description Invited speaker - HUGO 
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 Australia - March 2012
Talk title "Genome-scale investigation of the genetic control of the epigenome"

New collaborations established
Year(s) Of Engagement Activity 2012
 
Description Invited speaker - MRC CSC 
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 London
June 2012
Talk title "Genetic regulation of the rat cardiac methylome"

New collaborations established
Year(s) Of Engagement Activity 2012
 
Description Invited speaker - Rat Genomics & Models 
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 Hinxton, UK
December 2012
Talk title "Rat Genomes and Epigenomes"

N/A
Year(s) Of Engagement Activity 2012
 
Description Invited speaker - SHR symposium 
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 Australia
September 2012
Talk title "SHR cardiac epigenome"

new collaborations established
Year(s) Of Engagement Activity 2012
 
Description Meeting Organiser 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Primary Audience Participants in your research and patient groups
Results and Impact EURATools - Annual Meeting

N/A
Year(s) Of Engagement Activity 2010
 
Description Meeting Organiser, Session Chair 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Meeting Organiser, Session Chair - Genomics of Common Diseases

N/A
Year(s) Of Engagement Activity 2008
 
Description Meeting Organiser, Session Chair and Speaker 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Meeting Organiser, Session Chair and Speaker - Genomics of Common Diseases

N/A
Year(s) Of Engagement Activity 2007
 
Description Meeting Organiser, Session Chair and Speaker 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Meeting Organiser, Session Chair and Speaker - Cold Spring Harbor - Rat Genome and Models

N/A
Year(s) Of Engagement Activity 2007
 
Description Press Release 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Press Release - Hubner et al Nature Genetics paper

published study
Year(s) Of Engagement Activity 2006
 
Description Press Release 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? Yes
Primary Audience Public/other audiences
Results and Impact Press Release - Petretto et al Nature Genetics

Published study
Year(s) Of Engagement Activity 2008
 
Description School Visit - London 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Schools
Results and Impact Lecture

Lecture/Awareness
Year(s) Of Engagement Activity 2006
 
Description School Visit- London 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Schools
Results and Impact Lecture
Year(s) Of Engagement Activity 2008
 
Description Workshop 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? Yes
Primary Audience Participants in your research and patient groups
Results and Impact PHGF Working Group

N/A
Year(s) Of Engagement Activity 2011