The Scottish Genomes Partnership
Lead Research Organisation:
University of Edinburgh
Department Name: UNLISTED
Abstract
The genome is the complete set of genetic material in each of the cells of our body, inherited from our parents. Sometimes, changes (mutations) happen that cause disease. If someone has a disease, it’s now possible and affordable to read their genome to see if it might be caused by a mutation. If it has, scientists can use that information to understand the disease better, and perhaps one day treat or cure it. The UK's Department of Health (DH) set up its own company called Genomics England (GeL) to sequence the genomes of consenting families or individuals who suffer from rare genetic diseases and cancers. GeL has £100m from DH England to sequence 100,000 genomes. The MRC wants to work with the Devolved Governments of Northern Ireland, Scotland and Wales to help to develop in genome sequencing too, and to contribute to the 100,000 genomes project through GeL. We hope to help build a UK-wide partnership that can deliver better and faster results for patients.
This award is the MRC’s investment in the Scottish Genomes Partnership (SGP). It partners funding of £4,000,000 from the Scottish Government, and up to £3,500,000 from Scottish Enterprise. Together, funds will be used to (1) support SGP's sequencing of 1000 genomes of people with rare diseases (and often also their families) and (2) to address the challenge of how to provide researchers with appropriate access to, and use of, complex data stored across more than one secure site.
This award is the MRC’s investment in the Scottish Genomes Partnership (SGP). It partners funding of £4,000,000 from the Scottish Government, and up to £3,500,000 from Scottish Enterprise. Together, funds will be used to (1) support SGP's sequencing of 1000 genomes of people with rare diseases (and often also their families) and (2) to address the challenge of how to provide researchers with appropriate access to, and use of, complex data stored across more than one secure site.
Technical Summary
As part of a strategy to deliver genomic medicine in the NHS, Genomics England (GeL) was allocated £100m by DH England to sequence 100,000 genomes. The MRC wished to partner the Devolved Governments of Northern Ireland, Scotland and Wales to help to develop their capabilities and support their engagement with this initiative through GeL, to help to establish a UK-wide partnership that builds and brings together larger assets of genomic data from across the UK, with the capability to link together and enhance genomic, phenotypic and health record assets.
This award represents the MRC’s investment in the Scottish Genomes Partnership and complements partnership funding of £4,000,000 from the Scottish Government, and up to £3,500,000 from Scottish Enterprise, which will be awarded separately. Funds will be used to (1) support SGP's sequencing of genomes of individuals with rare diseases (1000 genomes, ca 330 trios) and (2) to support the development of federated analysis solutions for distributed genomic data, including through joint working with GeL.
This award represents the MRC’s investment in the Scottish Genomes Partnership and complements partnership funding of £4,000,000 from the Scottish Government, and up to £3,500,000 from Scottish Enterprise, which will be awarded separately. Funds will be used to (1) support SGP's sequencing of genomes of individuals with rare diseases (1000 genomes, ca 330 trios) and (2) to support the development of federated analysis solutions for distributed genomic data, including through joint working with GeL.
People |
ORCID iD |
Publications
Black HA
(2017)
Corrigendum to "Genetic epidemiology of motor neuron disease-associated variants in the Scottish population." [Neurobiol. Aging 51 (2017) 178.e11-178.e20].
in Neurobiology of aging
Byrne AT
(2017)
Interrogating open issues in cancer precision medicine with patient-derived xenografts.
in Nature reviews. Cancer
Cooke SL
(2017)
The Driver Mutational Landscape of Ovarian Squamous Cell Carcinomas Arising in Mature Cystic Teratoma.
in Clinical cancer research : an official journal of the American Association for Cancer Research
Dulias K
(2022)
Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney
in Proceedings of the National Academy of Sciences
Evans DGR
(2018)
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
in American journal of human genetics
Fletcher AJ
(2020)
Inherited Thoracic Aortic Disease: New Insights and Translational Targets.
in Circulation
Gregory JM
(2020)
Spatial transcriptomics identifies spatially dysregulated expression of GRM3 and USP47 in amyotrophic lateral sclerosis.
in Neuropathology and applied neurobiology
Halachev M
(2019)
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
in PLoS genetics
Hocking LJ
(2023)
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
in European journal of human genetics : EJHG
Kerr SM
(2019)
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.
in Scientific reports
Leighton DJ
(2023)
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
in Journal of neurology
Logan CV
(2018)
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
in American journal of human genetics
Olona A
(2018)
Epoxygenase inactivation exacerbates diet and aging-associated metabolic dysfunction resulting from impaired adipogenesis.
in Molecular metabolism
Parry DA
(2020)
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
in Genes & development
Pothula SP
(2016)
Hepatocyte growth factor inhibition: a novel therapeutic approach in pancreatic cancer.
in British journal of cancer
Sharbeen G
(2017)
MutY-Homolog (MYH) inhibition reduces pancreatic cancer cell growth and increases chemosensitivity.
in Oncotarget
Turro E
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
in Nature
Vallejo A
(2017)
An integrative approach unveils FOSL1 as an oncogene vulnerability in KRAS-driven lung and pancreatic cancer.
in Nature communications
Weerakkody R
(2018)
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
in Genetics in medicine : official journal of the American College of Medical Genetics
Wei W
(2019)
Germline selection shapes human mitochondrial DNA diversity.
in Science (New York, N.Y.)
| Description | Edinburgh visit of Illumina CEO, CFO and CTO to Edinburgh Genomics facilities and SGP |
| Geographic Reach | Multiple continents/international |
| Policy Influence Type | Influenced training of practitioners or researchers |
| Description | Informing the Future of Medical Genomics in Scotland, Precision Medicine Summit |
| Geographic Reach | National |
| Policy Influence Type | Influenced training of practitioners or researchers |
| Impact | Contributions to BEIS report on Precision Medicine and consideration by Scottish Government. |
| Description | Member, European Research Council Advanced Grant Panel LS2 |
| Geographic Reach | Europe |
| Policy Influence Type | Membership of a guideline committee |
| Impact | Award of European Research Council Advanced grants. |
| Description | National Diagnostics Advisory Group |
| Geographic Reach | National |
| Policy Influence Type | Membership of a guideline committee |
| Impact | Sponsorship and engagement with the pharmaceutical company Bristol Myers Squibb is leading to economic development in Scotland and across the UK. |
| Description | Priorities for Translational Research and Innovation in Scotland, Scottish Policy Conferences, Cancer Care |
| Geographic Reach | National |
| Policy Influence Type | Influenced training of practitioners or researchers |
| Impact | Raising the profile of genomic research to the attention of the Scottish Government. |
| Description | Scottish Clinical Genetics Research Day |
| Geographic Reach | National |
| Policy Influence Type | Influenced training of practitioners or researchers |
| Impact | Enhancement of Scottish clinical genetics research and knowledge and understanding of genomic tools available. |
| Description | Scottish Genomics Leadership Group |
| Geographic Reach | National |
| Policy Influence Type | Contribution to a national consultation/review |
| Impact | Research and practice implications for whole-genome sequencing, liquid biopsy and COVID-19 testing. |
| Description | The Ethics of Genomic medicine, Royal Medical Society |
| Geographic Reach | National |
| Policy Influence Type | Influenced training of practitioners or researchers |
| Impact | Raising the profile of ethical issues surrounding genomic research amongst medical communities. |
| Description | Visit of Cabinet Secretary for Health and Sport to Edinburgh Genomics |
| Geographic Reach | National |
| Policy Influence Type | Influenced training of practitioners or researchers |
| Impact | Raising the context of Scottish genomics to the attention of the Scottish Government. |
| Description | Visit of Scottish Cabinet Secretary for Health and Sport to Scottish Genomes Partnership and subsequent policy dialogue |
| Geographic Reach | National |
| Policy Influence Type | Implementation circular/rapid advice/letter to e.g. Ministry of Health |
| Impact | Proposal now under consideration by Scottish Government for future funding of genomics in healthcare. |
| Description | Early Detection Committee - Project Award |
| Amount | £483,949 (GBP) |
| Funding ID | C22524/A26254 |
| Organisation | Cancer Research UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 12/2018 |
| End | 11/2021 |
| Description | Molecular Pathology Nodes Call Feb 2015 |
| Amount | £1,990,267 (GBP) |
| Funding ID | MR/N005902/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 09/2015 |
| End | 08/2018 |
| Description | Scottish Genomes Partnership Agreement Extension |
| Amount | £1,044,181 (GBP) |
| Funding ID | SGP/2 extension |
| Organisation | Government of Scotland |
| Sector | Public |
| Country | United Kingdom |
| Start | 10/2019 |
| End | 09/2021 |
| Description | Whole Genome Sequencing for Health and Wealth Initiative |
| Amount | £2,000,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 02/2016 |
| End | 01/2018 |
| Title | Whole genome sequencing |
| Description | A whole genome sequencing facility was established in the University of Edinburgh. The facility has enabled collaborations locally and nationally including the sequencing of 14,000 whole genomes of humans and agricultural animals. The Pan-Scotland Scottish Genomes Partnership joined four Scottish medical schools, four regional genetic centres and their collaboration with Genomics England and the 100,000 Genomes Project. This included diagnostic testing by whole genome sequencing of more than 300 patients in the Scottish NHS and has led to £4.2 million of further funding for genome-based testing by the Scottish Government for patient care. |
| Type Of Material | Improvements to research infrastructure |
| Year Produced | 2018 |
| Provided To Others? | Yes |
| Impact | The diagnostic rate of around 20-25% was realised for patients in the Scottish NHS. Major industrial collaborations were established for agricultural genomics to improve agricultural health and productivity. |
| Title | Scottish genetic variant archive |
| Description | Where ethically authorised, all variants sequenced in the Scottish Genomes Partnership are being collated into a Scottish variant archive for wide use by academics, healthcare and other bona fide users. |
| Type Of Material | Database/Collection of data |
| Year Produced | 2017 |
| Provided To Others? | No |
| Impact | Database under construction and will be presented to (a) the SGP Scientific Advisory Board in April 2018 and (b) to a wider academic and professional audience by Q1 2019. |
| Description | AstraZeneca Annual Genomics Partners Workshop |
| Organisation | AstraZeneca |
| Country | United Kingdom |
| Sector | Private |
| PI Contribution | I made proposals for collaborative research with AstraZeneca. |
| Collaborator Contribution | I sit on the AstraZeneca genomics advisory board. |
| Impact | No impact yet |
| Start Year | 2018 |
| Description | Cell-Free DNA Opportunities for Cancer Diagnostics |
| Organisation | Cancer Research UK |
| Department | Edinburgh Cancer Research UK Centre |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We are developing strategies for analysis of cfDNA for early detection and diagnosis of cancer, |
| Collaborator Contribution | We carry out in silico and wet lab investigation of cfDNA across several cancer types, in collaboration with oncologists and cancer surgeons in the Scottish NHS. |
| Impact | No impact yet. |
| Start Year | 2018 |
| Description | Genetic Studies of Motor Neurone Disease - SGP SAB |
| Organisation | Scottish Genome Partnership |
| Country | United Kingdom |
| Sector | Learned Society |
| PI Contribution | We sequenced the genomes of 380 patients with motor neurone disease. |
| Collaborator Contribution | We analysed the genome sequences and compared to controls. The data are part of an emerging collaboration with the New York Genome Center to identify disease genes for motor neurone disease. |
| Impact | No impact yet |
| Start Year | 2016 |
| Description | Genomics England partnership for sequencing patients in the Scottish NHS |
| Organisation | Genomics England |
| Country | United Kingdom |
| Sector | Public |
| PI Contribution | Collaboration agreement signed, secure data transfer in place, genome sequence data being analysed collaboratively. |
| Collaborator Contribution | Recruitment and sequencing of 1000 genomes of patients and their families in the Scottish NHS |
| Impact | Written and oral evidence to House of Commons S&T Committee Inquiry in Genomics and Genome Editing |
| Start Year | 2016 |
| Description | Liquid Biopsy and Early Detection, CRUK Brain Cancer Centre of Excellence Workshop |
| Organisation | Cancer Research UK |
| Department | Edinburgh Cancer Research UK Centre |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We are developing strategies for analysis of cfDNA for early detection and diagnosis of cancer. |
| Collaborator Contribution | We carry out in silico and wet lab investigation of cfDNA across several cancer types, in collaboration with oncologists and cancer surgeons in the Scottish NHS. |
| Impact | No impact yet |
| Start Year | 2018 |
| Description | Long read sequencing in rare genetic disease |
| Organisation | Genomics England |
| Country | United Kingdom |
| Sector | Public |
| PI Contribution | This is a pan Scotland with the four clinical genetics departments in Scotland and Genomics England. We have developed protocols for long read sequencing and are now analysing these for comparison with short read sequencing and other means of genetic investigation such as microarrays. |
| Collaborator Contribution | Across Scotland, Clinical Geneticists have provided cases for the short read preliminary project that will feed into larger numbers for the long read project. Edinburgh Genomics, the University of Edinburgh genomics facility, have provided significant intellectual support and infrastructure for the project. Genomics England are research collaborators on methods for analysis |
| Impact | Through this activity, the collaboration with Genomics England has continued to be active. A new collaboration with the University of Oxford has led to new diagnoses, two national presentations and a draft manuscript at the advanced stage of preparation. |
| Start Year | 2022 |
| Description | Long read sequencing in rare genetic disease |
| Organisation | University of Oxford |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | This is a pan Scotland with the four clinical genetics departments in Scotland and Genomics England. We have developed protocols for long read sequencing and are now analysing these for comparison with short read sequencing and other means of genetic investigation such as microarrays. |
| Collaborator Contribution | Across Scotland, Clinical Geneticists have provided cases for the short read preliminary project that will feed into larger numbers for the long read project. Edinburgh Genomics, the University of Edinburgh genomics facility, have provided significant intellectual support and infrastructure for the project. Genomics England are research collaborators on methods for analysis |
| Impact | Through this activity, the collaboration with Genomics England has continued to be active. A new collaboration with the University of Oxford has led to new diagnoses, two national presentations and a draft manuscript at the advanced stage of preparation. |
| Start Year | 2022 |
| Description | Scottish Genomic Medicine |
| Organisation | Genomics England |
| Country | United Kingdom |
| Sector | Public |
| PI Contribution | The Scottish Genomes Partnership has been a major collaboration with Genomics England with sharing of genome data and diagnostic tests being carried out for over 1000 patients/family members from the Scottish NHS. Over £1 million in funding was awarded to continue whole genome sequencing of Scottish NHS patients by the scottish Government and further £3 million awarded through the Scottish NHS for exome-based testing of Scottish NHS patients. |
| Collaborator Contribution | Genomics England have hosted and analysed the genome sequences and clinical information of Scottish genomes and returned categorised genomic variants of potential or actual diagnostic significance. New diagnoses on the SGP Extension funding have been made in a cohort of 250 new sequenced genomes. Initial analysis has yielded a diagnostic rate of 15% but further diagnoses are expected on more detailed analyses. |
| Impact | The overall SGP project outputs have now been published in Hocking et al, European Journal of Human Genetics, 2022. PMID 36474026. |
| Start Year | 2017 |
| Description | Advanced Medicine: Introduction to Genomics, Advanced Medicine Symposium |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | This was a lecture at the Royal College of Physicians Advanced Medicine symposium, attended by over 200 trainees policymakers and others. |
| Year(s) Of Engagement Activity | 2018 |
| Description | Cross-Party Group: Rare, Genetic and Undiagnosed Conditions, Edinburgh, "Genomic Medicine in Scotland - the Scottish Science Advisory Council Report" |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Policymakers/politicians |
| Results and Impact | Parliamentary cross-party group meeting. Presentation and discussion about national policy. |
| Year(s) Of Engagement Activity | 2019 |
| Description | Edinburgh Medical Debate - proposed motion |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Undergraduate students |
| Results and Impact | The subject matter of the debate was: "Edinburgh Medical Debate. Genome Screening: A Pandora's Box?". The motion for the debate was: "This house believes that the UK population should have whole genome screening." As proposer of the motion, we had pre-debate support for 36% of the audience, and post-debate support of 47%. A swing of 11% in favour of the motion! |
| Year(s) Of Engagement Activity | 2017 |
| URL | https://media.ed.ac.uk/media/Edinburgh+Medical+Debate.+Genome+ScreeningA+A+Pandora%27s+BoxF/1_6nqurm... |
| Description | Facebook video presentation, liquid biopsy |
| Form Of Engagement Activity | Engagement focused website, blog or social media channel |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Public/other audiences |
| Results and Impact | In collaboration with Cancer Research UK I was filmed for a public engagement video to describe my research on liquid biopsy and its clinical implications. The video was posted on Facebook and received over 1 million views. |
| Year(s) Of Engagement Activity | 2019 |
| URL | https://www.facebook.com/7950759473/posts/313130479345003 |
| Description | Genomic Medicine: Yesterday, Today and Tomorrow |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | This was a lecture at the joint meeting of Genomics England and Brisith Society for Genetic Medicine, attended by over 200 clinicians, trainees and others. |
| Year(s) Of Engagement Activity | 2018 |
| Description | Invited presentation to Royal College of Physicians of Edinburgh: "Genomic Medicine in Scotland: Progress, Prospects and Promises" |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | Presentation to RCPE Senior Fellows - to inform and influence. |
| Year(s) Of Engagement Activity | 2017 |
| Description | NHS, Scottish Inherited Metabolic Disease Interest Group (SIMDIG), Stirling, "Genome-based Genetic Testing" |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | National metabolic diseases forum presentation. |
| Year(s) Of Engagement Activity | 2019 |
| Description | New perspectives, new opportunities in life science and healthcare, BioDundee |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | This was a lecture at the Biodundee healthcare research symposium, attended by over 100 trainees policymakers and others. |
| Year(s) Of Engagement Activity | 2018 |
| Description | Opening presentation at Royal College of Physicians, Advanced Medicine Conference |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited presentation on impact of advances in genomics on clinical practice. |
| Year(s) Of Engagement Activity | 2018 |
| URL | https://www.rcplondon.ac.uk/events/advanced-medicine-2 |
| Description | Opening presentation, British Society for Genetic Medicine, Royal College of Physicians of London |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited presentation on the Scottish Genomes Partnership and Scottish collaboration with Genomics England |
| Year(s) Of Engagement Activity | 2017 |
| URL | http://www.bsgm.org.uk/bsgm-annual-meeting-2017/ |
| Description | Oxford Nanopore Technologies, Nanopore Community Meeting 2022, New York, USA, Speaker, "Long-read genome sequencing in Scottish patients with rare disease" |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Industry/Business |
| Results and Impact | I was an invited speaker at this international meeting with an in-person and virtual audience of 4400. Excellent feedback from my talk, extensive opportunities for networking and future planning. |
| Year(s) Of Engagement Activity | 2022 |
| Description | Presentation at Scottish Parliament - Rare Disease Day |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | Prof Zosia Miedzybrodzska, Lead Clinical Geneticist on this award, and for Scotland, gave an invited presentation on the Scottish Genomes Partnership and genome sequencing therein. Over 150 people from patient organisations, the public, and members of the Scottish Parliament including the Minister for Mental Health and the Chair of the Cross-Party Group on Rare Diseases were present. |
| Year(s) Of Engagement Activity | 2018 |
| URL | https://www.scottishgenomespartnership.org |
| Description | Royal Society of Scottish Arts Lectures, Edinburgh, "The Human Genome - its Scientific and Societal Impact" |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Public/other audiences |
| Results and Impact | Invited presentation to learned society. |
| Year(s) Of Engagement Activity | 2019 |
| Description | School of Law, Legitimacy and Succession Roundtable, Edinburgh, "DNA and genetics explained" |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Policymakers/politicians |
| Results and Impact | Convened by the local school of law, senior lawyers and policy makers attended this invited workshop where the reportee was the genetics expert in presentation and discussion. |
| Year(s) Of Engagement Activity | 2019 |
| Description | Scottish Biomedical Postdoctoral Researcher Conference, Glasgow, "The Roadmap to a National Programme in Genomic Medicine" |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Supporters |
| Results and Impact | This working group was organised by Cancer Research UK to develop a 10 year roadmap for its programme on early detection of cancer. Consultative presentations working group discussions fed into outline policy. |
| Year(s) Of Engagement Activity | 2019 |
| Description | Scottish Genomics Leadership Group (SGLG), Government policy group, group member |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Policymakers/politicians |
| Results and Impact | Expert contribution to national policy forum on genomics in medicine. |
| Year(s) Of Engagement Activity | 2021,2022 |
| Description | UK Government Office for Life Sciences (OLS), UK genomics strategy discussion, Edinburgh. |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Policymakers/politicians |
| Results and Impact | The UK Government Office for Life Sciences (OLS) has been drafting a UK genomics strategy in consultation with UK National Genomics Board (https://www.gov.uk/government/groups/national-genomics-board). Professor Aitman was an invited expert. |
| Year(s) Of Engagement Activity | 2020 |
| URL | https://www.gov.uk/government/groups/national-genomics-board |
| Description | UK Rare Diseases Forum, Edinburgh, "Rapid Whole Genome Sequencing" |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | National meeting on genetics of rare diseases for a wide audience including policy makers, scientists, clinicians, funders. The meeting built collaborations from the research findings and clinical activity presented. |
| Year(s) Of Engagement Activity | 2019 |