(Epi)genome editing to combat expanded CAG/CTG repeat disorders
Lead Research Organisation:
Cardiff University
Abstract
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Technical Summary
The UK Dementia Research Institute (UK DRI) is an initiative funded by the Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. Funding details for UK DRI programmes will be added in 2019.
Expanded CAG/CTG repeats cause over 13 neurological and neuromuscular disorders, including Huntington disease, myotonic dystrophy, and several spinocerebellar ataxias. They affect 1 in 2000 people worldwide. The diseases are debilitating, often leading to dementia. There is currently no available cure. We aim to develop novel therapeutic avenues and to harness new technologies to detect (i.e., diagnose) and manipulate them. To achieve this, we use a variety of tools, including cutting edge molecular biology and genome engineering techniques, next-generation sequencing, as well as in vitro and in vivo pre-clinical disease models.
We focus on:
1) Gene editing and the mechanism of expanded CAG/CTG repeat instability
Expanded CAG/CTG repeats are highly unstable somatically, leading to mutation frequencies of 100% in some tissues. The size of the repeat tract determines in large part the severity of the disease. Understanding this mechanism is essential to designing and optimising treatments aimed at contracting the repeat tract. We have recently developed a gene editing-based approach to contract the expanded repeat tract using the CRISPR-Cas9 system. We are currently determining whether this technology can slow, prevent, or reverse the disease phenotypes.
Representative reference: Cinesi et al (2016) Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase. Nat Commun, 7, 13272.
2) The role of chromatin structure in the expression of expanded CAG/CTG repeats
Expanded CAG/CTG repeats accumulate chromatin marks reminiscent of heterochromatin and are downregulated (but not completely silenced) compared to normal size repeats. In addition, there is genetic and biochemical evidence that expanded repeats require extra factors for efficient expression. Identifying these factors and identifying their mode of action may lead to the development of epigenome editing approaches to combat expanded CAG/CTG repeat disorders.
Representative reference: Yang et al (2018) Uncovering the interplay between epigenome editing efficiency and sequence context using a novel inducible targeting system. BioRxiv.
3) Development of tools to manipulate and detect expanded CAG/CTG repeats
Determining repeat size for diagnostic purposes and for routine molecular biology applications is laborious. This is because of the repetitive nature and the inherent heterogeneity of the repeat size from cell to cell (i.e., repeat instability). Thus, there is a great need to improve on the current technologies. In addition, such system will help us determine whether any therapies involving contracting the repeat tracts are effective.
Representative reference: Malbec et al (2019) µLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5 minutes. Scientific Reports 9, (1):23.
Expanded CAG/CTG repeats cause over 13 neurological and neuromuscular disorders, including Huntington disease, myotonic dystrophy, and several spinocerebellar ataxias. They affect 1 in 2000 people worldwide. The diseases are debilitating, often leading to dementia. There is currently no available cure. We aim to develop novel therapeutic avenues and to harness new technologies to detect (i.e., diagnose) and manipulate them. To achieve this, we use a variety of tools, including cutting edge molecular biology and genome engineering techniques, next-generation sequencing, as well as in vitro and in vivo pre-clinical disease models.
We focus on:
1) Gene editing and the mechanism of expanded CAG/CTG repeat instability
Expanded CAG/CTG repeats are highly unstable somatically, leading to mutation frequencies of 100% in some tissues. The size of the repeat tract determines in large part the severity of the disease. Understanding this mechanism is essential to designing and optimising treatments aimed at contracting the repeat tract. We have recently developed a gene editing-based approach to contract the expanded repeat tract using the CRISPR-Cas9 system. We are currently determining whether this technology can slow, prevent, or reverse the disease phenotypes.
Representative reference: Cinesi et al (2016) Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase. Nat Commun, 7, 13272.
2) The role of chromatin structure in the expression of expanded CAG/CTG repeats
Expanded CAG/CTG repeats accumulate chromatin marks reminiscent of heterochromatin and are downregulated (but not completely silenced) compared to normal size repeats. In addition, there is genetic and biochemical evidence that expanded repeats require extra factors for efficient expression. Identifying these factors and identifying their mode of action may lead to the development of epigenome editing approaches to combat expanded CAG/CTG repeat disorders.
Representative reference: Yang et al (2018) Uncovering the interplay between epigenome editing efficiency and sequence context using a novel inducible targeting system. BioRxiv.
3) Development of tools to manipulate and detect expanded CAG/CTG repeats
Determining repeat size for diagnostic purposes and for routine molecular biology applications is laborious. This is because of the repetitive nature and the inherent heterogeneity of the repeat size from cell to cell (i.e., repeat instability). Thus, there is a great need to improve on the current technologies. In addition, such system will help us determine whether any therapies involving contracting the repeat tracts are effective.
Representative reference: Malbec et al (2019) µLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5 minutes. Scientific Reports 9, (1):23.
Organisations
- Cardiff University, United Kingdom (Collaboration, Lead Research Organisation)
- University College London, United Kingdom (Collaboration)
- Institute of Zoology (Collaboration)
- University of Edinburgh, United Kingdom (Collaboration)
- Laval University, Canada (Collaboration)
- University of Glasgow, United Kingdom (Collaboration)
- Lausanne University, Switzerland (Collaboration)
- University of Geneva, Switzerland (Collaboration)
- University of Cambridge (Collaboration)
- Children's Hospital of Philadelphia (Collaboration)
- Imagine Institute (Collaboration)
- Massachusetts General Hospital (Collaboration)
- University of Toulouse (Collaboration)
- King's College London, United Kingdom (Collaboration)
People |
ORCID iD |
| Vincent Dion (Principal Investigator) |
Publications
Cinesi C
(2020)
GFP Reporters to Monitor Instability and Expression of Expanded CAG/CTG Repeats.
in Methods in molecular biology (Clifton, N.J.)
Malbec R
(2019)
µLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5 minutes.
in Scientific reports
Ruiz Buendía GA
(2020)
Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion.
in Science advances
Wheeler VC
(2021)
Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models.
in Journal of Huntington's disease
Yang B
(2022)
Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing.
in Human molecular genetics
| Description | Optimisation of Cas9 for in vivo delivery and gene editing |
| Amount | £99,987 (GBP) |
| Organisation | UK Dementia Research Institute |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 04/2021 |
| End | 05/2023 |
| Description | UK DRI Mouse Models for dementia research |
| Amount | £0 (GBP) |
| Organisation | UK Dementia Research Institute |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2020 |
| End | 08/2022 |
| Title | Repeat Detector |
| Description | Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and pre-clinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more severe disease. In addition, interruptions are sometimes present within repeats and can alter disease manifestation. Despite advances in methodologies, determining repeat size and identifying interruptions in targeted sequencing datasets remains a major challenge. This is because standard alignment tools are ill-suited for the repetitive nature of these sequences. To address this, we have developed Repeat Detector (RD), a deterministic profile weighting algorithm for counting repeats in targeted sequencing data. We tested RD using blood-derived DNA samples from Huntington's disease (HD) and Fuchs endothelial corneal dystrophy patients sequenced using either Illumina MiSeq or Pacific Biosciences single-molecule, real-time sequencing platforms. RD was highly accurate in determining repeat sizes of 609 HD blood-derived samples and did not require prior knowledge of the flanking sequences or their polymorphisms within the patient population. We demonstrate that RD can be used to identify individuals with repeat interruptions and may provide a measure of repeat instability within an individual. RD is therefore highly versatile and may find applications in the diagnosis of expanded repeat disorders and the development of novel therapies |
| Type Of Material | Computer model/algorithm |
| Year Produced | 2022 |
| Provided To Others? | Yes |
| Impact | None yet. |
| URL | https://github.com/DionLab/RepeatDetector |
| Title | Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion |
| Description | 4C-seq, Bisultifite Sequencing, and ChIP-seq data from publication: Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion. Ruiz Buendía GA, Leleu M, Marzetta F, Vanzan L, Tan JY, Ythier V, Randall EL, Marques AC, Baubec T, Murr R, Xenarios I, Dion V. Sci Adv. 2020 Jul 3;6(27):eaaz4012. |
| Type Of Material | Database/Collection of data |
| Year Produced | 2020 |
| Provided To Others? | Yes |
| Impact | Shared of the entire study's dataset |
| URL | https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE148185 |
| Description | 3D chromatin structure at expanded CAG/CTG repeats |
| Organisation | Cardiff University |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We have designed the study, lead it, produced and analysed the data. |
| Collaborator Contribution | The partners have provided technical help and bioinformatics or ChIP-seq experience. |
| Impact | Ruiz Buendía GA, Leleu M, Marzetta F, Vanzan L, Tan JY, Ythier V, Randall EL, Marques AC, Baubec T, Murr R, Xenarios I, Dion V. 2020. Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion. Science Advances. 6(27): eaaz4012 |
| Start Year | 2016 |
| Description | 3D chromatin structure at expanded CAG/CTG repeats |
| Organisation | University of Geneva |
| Country | Switzerland |
| Sector | Academic/University |
| PI Contribution | We have designed the study, lead it, produced and analysed the data. |
| Collaborator Contribution | The partners have provided technical help and bioinformatics or ChIP-seq experience. |
| Impact | Ruiz Buendía GA, Leleu M, Marzetta F, Vanzan L, Tan JY, Ythier V, Randall EL, Marques AC, Baubec T, Murr R, Xenarios I, Dion V. 2020. Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion. Science Advances. 6(27): eaaz4012 |
| Start Year | 2016 |
| Description | 3D chromatin structure at expanded CAG/CTG repeats |
| Organisation | University of Lausanne |
| Country | Switzerland |
| Sector | Academic/University |
| PI Contribution | We have designed the study, lead it, produced and analysed the data. |
| Collaborator Contribution | The partners have provided technical help and bioinformatics or ChIP-seq experience. |
| Impact | Ruiz Buendía GA, Leleu M, Marzetta F, Vanzan L, Tan JY, Ythier V, Randall EL, Marques AC, Baubec T, Murr R, Xenarios I, Dion V. 2020. Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion. Science Advances. 6(27): eaaz4012 |
| Start Year | 2016 |
| Description | 3D chromatin structure at expanded CAG/CTG repeats |
| Organisation | University of Zurich |
| Country | Switzerland |
| Sector | Academic/University |
| PI Contribution | We have designed the study, lead it, produced and analysed the data. |
| Collaborator Contribution | The partners have provided technical help and bioinformatics or ChIP-seq experience. |
| Impact | Ruiz Buendía GA, Leleu M, Marzetta F, Vanzan L, Tan JY, Ythier V, Randall EL, Marques AC, Baubec T, Murr R, Xenarios I, Dion V. 2020. Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion. Science Advances. 6(27): eaaz4012 |
| Start Year | 2016 |
| Description | Contracting expanded CAG/CTG repeats using the CRISPR/Cas9 repeats |
| Organisation | Children's Hospital of Philadelphia |
| Country | United States |
| Sector | Hospitals |
| PI Contribution | We are testing in vivo whether our approach to contract and therefore correct expanded repeats works. This is based on our paper by Cinesi et al Nat Comms 2016. |
| Collaborator Contribution | They are conducting mouse experiments for HD and DM1 mouse models and they are providing access to patient samples (myoblasts, iPSCs, etc). They have also made AAVs. |
| Impact | No output yet except a successful grant from the MDF. |
| Start Year | 2018 |
| Description | Contracting expanded CAG/CTG repeats using the CRISPR/Cas9 repeats |
| Organisation | Imagine Institute |
| Country | France |
| Sector | Hospitals |
| PI Contribution | We are testing in vivo whether our approach to contract and therefore correct expanded repeats works. This is based on our paper by Cinesi et al Nat Comms 2016. |
| Collaborator Contribution | They are conducting mouse experiments for HD and DM1 mouse models and they are providing access to patient samples (myoblasts, iPSCs, etc). They have also made AAVs. |
| Impact | No output yet except a successful grant from the MDF. |
| Start Year | 2018 |
| Description | Contracting expanded CAG/CTG repeats using the CRISPR/Cas9 repeats |
| Organisation | Massachusetts General Hospital |
| Country | United States |
| Sector | Hospitals |
| PI Contribution | We are testing in vivo whether our approach to contract and therefore correct expanded repeats works. This is based on our paper by Cinesi et al Nat Comms 2016. |
| Collaborator Contribution | They are conducting mouse experiments for HD and DM1 mouse models and they are providing access to patient samples (myoblasts, iPSCs, etc). They have also made AAVs. |
| Impact | No output yet except a successful grant from the MDF. |
| Start Year | 2018 |
| Description | Contracting expanded CAG/CTG repeats using the CRISPR/Cas9 repeats |
| Organisation | University of Laval |
| Country | Canada |
| Sector | Academic/University |
| PI Contribution | We are testing in vivo whether our approach to contract and therefore correct expanded repeats works. This is based on our paper by Cinesi et al Nat Comms 2016. |
| Collaborator Contribution | They are conducting mouse experiments for HD and DM1 mouse models and they are providing access to patient samples (myoblasts, iPSCs, etc). They have also made AAVs. |
| Impact | No output yet except a successful grant from the MDF. |
| Start Year | 2018 |
| Description | Expanded CAG/CTG Repeats Resist Gene Silencing Mediated by Targeted Epigenome Editing |
| Organisation | University of Lausanne |
| Country | Switzerland |
| Sector | Academic/University |
| PI Contribution | We have designed the experiments, conducted them and wrote the manuscript. |
| Collaborator Contribution | They have analysed some bisulfite sequencing data for us. |
| Impact | Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing. Bin Yang, Alicia C Borgeaud, Marcela Buricová, Lorène Aeschbach, Oscar Rodríguez-Lima, Gustavo A Ruiz Buendía, Cinzia Cinesi, Alysha S Taylor, Tuncay Baubec, Vincent Dion Human Molecular Genetics, ddab255, https://doi.org/10.1093/hmg/ddab255 |
| Start Year | 2015 |
| Description | Expanded CAG/CTG Repeats Resist Gene Silencing Mediated by Targeted Epigenome Editing |
| Organisation | University of Zurich |
| Country | Switzerland |
| Sector | Academic/University |
| PI Contribution | We have designed the experiments, conducted them and wrote the manuscript. |
| Collaborator Contribution | They have analysed some bisulfite sequencing data for us. |
| Impact | Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing. Bin Yang, Alicia C Borgeaud, Marcela Buricová, Lorène Aeschbach, Oscar Rodríguez-Lima, Gustavo A Ruiz Buendía, Cinzia Cinesi, Alysha S Taylor, Tuncay Baubec, Vincent Dion Human Molecular Genetics, ddab255, https://doi.org/10.1093/hmg/ddab255 |
| Start Year | 2015 |
| Description | Long read sequencing of expanded CAG/CTG repeat disorders |
| Organisation | Cardiff University |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We are providing an algorithm to count repeat tracts from PacBio sequences. We have also identified novel rearrangents near expanded repeats and we lead this project. |
| Collaborator Contribution | The partners have helped with the development (in Lausanne) and people in Cardiff are providing some sequencing data from HD patients. |
| Impact | No output yet. |
| Start Year | 2014 |
| Description | Long read sequencing of expanded CAG/CTG repeat disorders |
| Organisation | University of Lausanne |
| Country | Switzerland |
| Sector | Academic/University |
| PI Contribution | We are providing an algorithm to count repeat tracts from PacBio sequences. We have also identified novel rearrangents near expanded repeats and we lead this project. |
| Collaborator Contribution | The partners have helped with the development (in Lausanne) and people in Cardiff are providing some sequencing data from HD patients. |
| Impact | No output yet. |
| Start Year | 2014 |
| Description | Microfluidics for sizing and sequencing expanded CAG/CTG repeats |
| Organisation | University of Toulouse |
| Department | Laboratory for Analysis and Architecture of Systems |
| Country | France |
| Sector | Academic/University |
| PI Contribution | We provide molecular biology expertise to prepare samples with expanded CAG/CTG repeats from DM1 and HD patients |
| Collaborator Contribution | They provide the microfluidics expertise |
| Impact | We published a paper: Malbec et al Sci Rep 2019. |
| Start Year | 2013 |
| Description | Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models |
| Organisation | Massachusetts General Hospital |
| Country | United States |
| Sector | Hospitals |
| PI Contribution | Vanessa Wheeler and I wrote a review together. This was an equal contribution between both of us. |
| Collaborator Contribution | Vanessa Wheeler and I wrote a review together. This was an equal contribution between both of us. |
| Impact | Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models. Wheeler VC, Dion V. J Huntingtons Dis. 2021;10(1):123-148. doi: 10.3233/JHD-200426. |
| Start Year | 2020 |
| Description | Repeat Detector: accurate, efficient, and flexible sizing of expanded CAG/CTG repeats from targeted DNA sequencing. |
| Organisation | University College London |
| Department | Institute of Ophthalmology UCL |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We developed, optimised, and implemented a new algorithm to count repeat size and identify interruptions from targeted sequencing datasets. |
| Collaborator Contribution | Provided sequencing data from 649 HD individuals (Glasgow), or 11 FECD individuals (UCL), or did coding (Lausanne). |
| Impact | https://www.biorxiv.org/content/10.1101/2022.03.08.483398v1 |
| Start Year | 2020 |
| Description | Repeat Detector: accurate, efficient, and flexible sizing of expanded CAG/CTG repeats from targeted DNA sequencing. |
| Organisation | University of Glasgow |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | We developed, optimised, and implemented a new algorithm to count repeat size and identify interruptions from targeted sequencing datasets. |
| Collaborator Contribution | Provided sequencing data from 649 HD individuals (Glasgow), or 11 FECD individuals (UCL), or did coding (Lausanne). |
| Impact | https://www.biorxiv.org/content/10.1101/2022.03.08.483398v1 |
| Start Year | 2020 |
| Description | Repeat Detector: accurate, efficient, and flexible sizing of expanded CAG/CTG repeats from targeted DNA sequencing. |
| Organisation | University of Lausanne |
| Country | Switzerland |
| Sector | Academic/University |
| PI Contribution | We developed, optimised, and implemented a new algorithm to count repeat size and identify interruptions from targeted sequencing datasets. |
| Collaborator Contribution | Provided sequencing data from 649 HD individuals (Glasgow), or 11 FECD individuals (UCL), or did coding (Lausanne). |
| Impact | https://www.biorxiv.org/content/10.1101/2022.03.08.483398v1 |
| Start Year | 2020 |
| Description | UK Dementia Research Institute cross-centre theme on DNA repair and neurodegeneration |
| Organisation | Cardiff University |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I have been leading the UK Dementia Research institute cross-centre theme on DNA repair and neurodegeneration. |
| Collaborator Contribution | Cambridge University is the Co-lead on this. Other institutions are participants in the theme. |
| Impact | Monthly Meetings and seminars. |
| Start Year | 2020 |
| Description | UK Dementia Research Institute cross-centre theme on DNA repair and neurodegeneration |
| Organisation | King's College London |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I have been leading the UK Dementia Research institute cross-centre theme on DNA repair and neurodegeneration. |
| Collaborator Contribution | Cambridge University is the Co-lead on this. Other institutions are participants in the theme. |
| Impact | Monthly Meetings and seminars. |
| Start Year | 2020 |
| Description | UK Dementia Research Institute cross-centre theme on DNA repair and neurodegeneration |
| Organisation | University College London |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I have been leading the UK Dementia Research institute cross-centre theme on DNA repair and neurodegeneration. |
| Collaborator Contribution | Cambridge University is the Co-lead on this. Other institutions are participants in the theme. |
| Impact | Monthly Meetings and seminars. |
| Start Year | 2020 |
| Description | UK Dementia Research Institute cross-centre theme on DNA repair and neurodegeneration |
| Organisation | University of Cambridge |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I have been leading the UK Dementia Research institute cross-centre theme on DNA repair and neurodegeneration. |
| Collaborator Contribution | Cambridge University is the Co-lead on this. Other institutions are participants in the theme. |
| Impact | Monthly Meetings and seminars. |
| Start Year | 2020 |
| Description | UK Dementia Research Institute cross-centre theme on DNA repair and neurodegeneration |
| Organisation | University of Edinburgh |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I have been leading the UK Dementia Research institute cross-centre theme on DNA repair and neurodegeneration. |
| Collaborator Contribution | Cambridge University is the Co-lead on this. Other institutions are participants in the theme. |
| Impact | Monthly Meetings and seminars. |
| Start Year | 2020 |
| Title | TREATMENT AND/OR PREVENTION OF DNA-TRIPLET REPEAT DISEASES OR DISORDERS |
| Description | The present invention refers to the field of DNA repair and to compositions, kits and methods for the treatment and/or prevention of DNA-triplet repeat diseases or disorders. |
| IP Reference | WO2017178590 |
| Protection | Patent application published |
| Year Protection Granted | 2017 |
| Licensed | No |
| Impact | We are talking to several companies to develop it further and to find licencing partners. Currently in national phase. |
| Description | A cautious return - UKDRI at Cardiff |
| Form Of Engagement Activity | Engagement focused website, blog or social media channel |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Media (as a channel to the public) |
| Results and Impact | Follow up to return to lab blog in July 2020 |
| Year(s) Of Engagement Activity | 2020 |
| URL | https://www.alzheimersresearchuk.org/blog/a-cautious-return-uk-dri-at-cardiff-university/ |
| Description | Gene Editing for Myotonic Dystrophy |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Public/other audiences |
| Results and Impact | Online public lecture on Gene Editing for Myotonic Dystrophy |
| Year(s) Of Engagement Activity | 2020 |
| URL | https://www.myotonic.org/digital-academy/gene-editing-myotonic-dystrophy |
| Description | Invited Speaker (Fusion Spatial Genome Organization conference, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited Speaker at Fusion Spatial Genome Organization conference, Nassau, The Bahamas |
| Year(s) Of Engagement Activity | 2019 |
| Description | Invited Speaker (International ITU Molecular Biology and Genetic Student Congress, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited to speak at the International ITU Molecular Biology and Genetic Student Congress 2019, in Istanbul, Turkey. |
| Year(s) Of Engagement Activity | 2019 |
| URL | http://www.mbgkongre.itu.edu.tr/ |
| Description | Invited Speaker (Myotonic Dystrophy Foundation Annual Meeting, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | Invited speaker at the Myotonic Dystrophy Foundation Annual Meeting 2019. Philadelphia, USA. |
| Year(s) Of Engagement Activity | 2019 |
| URL | http://myotonicdystrophy.com/http:/mytonicdystrophy.com/mdf-annual-myotonic-dystrophy-conference-201... |
| Description | Invited Speaker (UKDRI Connectome, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited Speaker at the UKDRI Connectome 2019, in Birmingham UK. |
| Year(s) Of Engagement Activity | 2019 |
| Description | Invited Talk for the myotonic dystrophy annual meeting |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited talk for the Myotonic Dystrophy Annual Meeting accompanied by discussions and chats online. |
| Year(s) Of Engagement Activity | 2021 |
| Description | Invited talk at Understanding the Genome IV conference. |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Third sector organisations |
| Results and Impact | Presentation on methods to sequence expanded CAG/CTG repeats and their effect on mutagenesis in the context of Huntington's disease. |
| Year(s) Of Engagement Activity | 2021 |
| Description | Invited talk at the European Laboratory Research & Innovation Group (ELRIG) Drug Discovery 2021 |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Industry/Business |
| Results and Impact | Invited talk for the European Laboratory Research & Innovation Group (ELRIG) Drug Discovery 2021 about gene editing in expanded CAG/CTG repeat disorders. Followed by a media interview request. |
| Year(s) Of Engagement Activity | 2021 |
| Description | Invited talk for the Wales Tech Week |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Public/other audiences |
| Results and Impact | Talk about gene editing for treating Dementia at the Welsh tech week. |
| Year(s) Of Engagement Activity | 2021 |
| Description | News Paper Interview (2019) |
| Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Media (as a channel to the public) |
| Results and Impact | I was interviewed about a new call for a moratorium on human germline editing using CRISPR published in Nature on 13/03/2019 |
| Year(s) Of Engagement Activity | 2019 |
| Description | News Website Interview (Heidi News, 2019) |
| Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Media (as a channel to the public) |
| Results and Impact | Interview with Heidi News, a Swiss news website, about CRISPR babies. Provided cautionary opinion about perceived novel and impactful finding regarding lifespan of genetically edited infants. Following publication of article, paper discussed was withdrawn due to biased data. |
| Year(s) Of Engagement Activity | 2019 |
| URL | https://www.heidi.news/articles/les-bebes-genetiquement-modifies-en-chine-seront-exposes-a-des-risqu... |
| Description | News Website Interview (Santé Personalisée & Societé, 2019) |
| Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Media (as a channel to the public) |
| Results and Impact | News website interview with Santé Personalisée & Societé about the methods and technologies used to edit the genome. Provided information about range of methods beyond most popularly known, educating readers about the variety and uses of gene editing techniques. |
| Year(s) Of Engagement Activity | 2019 |
| URL | https://santeperso.ch/Applications-concretes/Quelles-techniques-pour-editer-le-genome |
| Description | Newsletter (Myotonic Dystrophy Foundation Newsletter, 2019) |
| Form Of Engagement Activity | A magazine, newsletter or online publication |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | Article in Myotonic Dystrophy Foundation Newsletter publicising and congratulating Dr Vincent Dion on being the recipient of a $250,000 grant to pursue 'cure for myotonic dystrophy'. Explains the breakthrough that led to this line of research, and how this grant will be used to fund further research towards the cause of curing MD. |
| Year(s) Of Engagement Activity | 2019 |
| URL | https://www.myotonic.org/dr-vincent-dion-awarded-250000-myotonic-grant-pursue-cure-dm |
| Description | Newspaper Interview (Le Temps, 2019) |
| Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Media (as a channel to the public) |
| Results and Impact | Provided expert opinion and commentary on controversial use of gene editing techniques, and call for a ban on their use in human embryos. Interview was provided in Le Temps, a french language newspaper. |
| Year(s) Of Engagement Activity | 2019 |
| URL | https://www.letemps.ch/sciences/scientifiques-reclament-linterdiction-outils-dedition-genome-embryon... |
| Description | Plenary talk for the European Huntington's Disease Network |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Presentation about gene editing approach for Huntington's disease. |
| Year(s) Of Engagement Activity | 2021 |
| URL | http://www.ehdn.org/ehdn2021/ |
| Description | Post Covid blog for ARUK |
| Form Of Engagement Activity | Engagement focused website, blog or social media channel |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Media (as a channel to the public) |
| Results and Impact | Emma Randall and Meghan Larin wrote a blog post on what it's like to return to the lab in a post-covid world |
| Year(s) Of Engagement Activity | 2020 |
| URL | https://www.alzheimersresearchuk.org/blog/a-cautious-return-dementia-researchers-head-back-to-the-la... |
| Description | Presentation to the Cardiff Huntington's Disease Network |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Postgraduate students |
| Results and Impact | Presenting our gene editing work to the regional Huntington's Disease Network. Allowed me to engaged other research groups for collaborations and networking. |
| Year(s) Of Engagement Activity | 2020 |
| URL | https://www.cardiff.ac.uk/huntingtons-disease-centre/research/understanding-hd |
| Description | Radio Interview (CQFD, 2019) |
| Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Media (as a channel to the public) |
| Results and Impact | After a press release was put out about our latest paper, I was asked to go on a 6-minute live radio interview for Switzerland's French-speaking highest rated popular science show. |
| Year(s) Of Engagement Activity | 2019 |
| URL | https://www.rts.ch/la-1ere/programmes/cqfd/10100364-un-diagnostic-plus-rapide-de-la-maladie-de-hunti... |
| Description | Radio Interview (RTS, 2019) |
| Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Media (as a channel to the public) |
| Results and Impact | Provided information on gene editing methods and uses for the CQFD program on the diagnostics methods for Huntington's disease. Interviewed on RTS - la première. |
| Year(s) Of Engagement Activity | 2019 |
| URL | https://pages.rts.ch/la-1ere/programmes/cqfd/8705648-des-ciseaux-genetiques-qui-pourraient-revolutio... |
| Description | Selected Speaker (Genome Stability Network, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | Selected Speaker at Genome Stability Network. Cambridge, UK. |
| Year(s) Of Engagement Activity | 2019 |
| Description | Seminar Speaker (Brandeis University, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Professional Practitioners |
| Results and Impact | Seminar Speaker at Brandeis University, USA. |
| Year(s) Of Engagement Activity | 2019 |
| Description | Seminar Speaker (Cardiff University, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Professional Practitioners |
| Results and Impact | Speaker at Cardiff University. |
| Year(s) Of Engagement Activity | 2019 |
| Description | Seminar Speaker (Institute of Genetics and Biophysics, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Professional Practitioners |
| Results and Impact | Seminar Speaker. Institute of Genetics and Biophysics, "Adriano Buzzati-Traverso", Consiglio Nazionale delle Ricerche, Italy. |
| Year(s) Of Engagement Activity | 2019 |
| Description | Seminar Speaker (Massachusetts General Hospital, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Professional Practitioners |
| Results and Impact | Seminar Speaker at Massachusetts General Hospital, USA |
| Year(s) Of Engagement Activity | 2019 |
| Description | Seminar Speaker (Tufts University, 2019) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Professional Practitioners |
| Results and Impact | Seminar Speaker at Tufts University. USA |
| Year(s) Of Engagement Activity | 2019 |
| Description | Seminar speaker at University of Vermont School of Medicine |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Seminar about gene editing and mutagenesis in Huntington's disease and other expanded CAG/CTG repeat disorders. |
| Year(s) Of Engagement Activity | 2021 |
| Description | Talk - UK DRI cross centre theme on DNA repair and Neurodegeneration |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Postgraduate students |
| Results and Impact | Seminar and discussions about sequencing expanded CAG/CTG repeats. |
| Year(s) Of Engagement Activity | 2021 |