(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.
 
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