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.
Organisations
- MRC London Institute of Medical Sciences, United Kingdom (Lead Research Organisation)
- Harvard University (Collaboration)
- University of Oxford, United Kingdom (Collaboration)
- Beth Israel Deaconess Medical Center (Collaboration)
- Medical College Wisconsin, United States (Collaboration)
- National Institute for Health Research, United Kingdom (Collaboration)
- University of Edinburgh, United Kingdom (Collaboration)
- University of Cambridge (Collaboration)
- Austrian Academy of Sciences (Collaboration)
- Imperial College London, United Kingdom (Collaboration)
- Imperial College Healthcare NHS Trust (Collaboration)
- Helmholtz Association of German Research Centres (Collaboration)
People |
ORCID iD |
Timothy Aitman (Principal Investigator) |
Publications

Abdelmagid N
(2016)
Von Willebrand Factor Gene Variants Associate with Herpes simplex Encephalitis.
in PloS one

Adamowicz M
(2018)
Multiplexed DNA Methylation Analysis of Target Regions Using Microfluidics (Fluidigm).
in Methods in molecular biology (Clifton, N.J.)

Afzali B
(2017)
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
in Nature immunology

Aitman T
(2016)
A RATional choice for translational research?
in Disease models & mechanisms

Aitman TJ
(2008)
Progress and prospects in rat genetics: a community view.
in Nature genetics

Aitman TJ
(2010)
Genetic mapping and positional cloning.
in Methods in molecular biology (Clifton, N.J.)

Aitman TJ
(2006)
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.
in Nature

Aitman TJ
(2011)
The future of model organisms in human disease research.
in Nature reviews. Genetics


Atanur SS
(2010)
The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance.
in Genome research
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 | 09/2007 |
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 | 09/2009 |
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 | 03/2009 |
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 | 08/2009 |
End | 03/2010 |
Description | European Research Council |
Amount | £2,000,000 (GBP) |
Organisation | European Research Council (ERC) |
Sector | Public |
Country | Belgium |
Start | 09/2011 |
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 | 09/2006 |
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 | 07/2008 |
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 | Public |
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 | 09/2008 |
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 | 09/2007 |
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 | Academic/University |
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 | Public |
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 | TREATMENT OF INFLAMMATORY DISEASES |
Description | We describe the involvement of JunD in the activation of macrophages and the association of JunD in inflammatory diseases and conditions. |
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 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? | 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 - 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 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 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 - Rat Genome Assembly Meeting, Sanger Institute N/A |
Year(s) Of Engagement Activity | 2007 |
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 - 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 -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? | 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 - 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? | 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 - 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 - 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 - 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 - 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 - 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 - 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 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 - 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 - 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 - 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 - 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 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 - 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 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 - 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 - 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? | 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 | 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 - 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 - 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 - 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 | 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 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 - 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 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 - 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? | 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 - Frontiers in Renal Science: Genetics, Inflammation and Repair N/A |
Year(s) Of Engagement Activity | 2007 |
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? | 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 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 - University of Oxford - Department of Physiology, Anatomy and Genetics N/A |
Year(s) Of Engagement Activity | 2009 |
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 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 - 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 |
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 - Kyoto University 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 |