Mechanism of the DNA damage response in Huntington’s disease pathogenesis and relevance for therapeutics

Lead Research Organisation: University College London

Abstract

Abstracts are not currently available in GtR for all funded research. This is normally because the abstract was not required at the time of proposal submission, but may be because it included sensitive information such as personal details.

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.

Huntington’s disease (HD) is a fatal autosomal dominant neurodegenerative disease caused by a CAG repeat expansion. The repeat is unstable and prone to expansion with age in the most affected tissues, particularly the striatum, and the rate of this somatic instability (SI) correlates with disease course. However, the molecular mechanism underlying SI is not yet fully understood.
Our GWAS studies have identified genetic variation in DNA damage response (DDR) proteins such as FAN1 and MSH3 that modify the course of HD. We recently found that FAN1 protectively restrains CAG expansion in cell models, whereas MSH3 likely promotes expansion. We have demonstrated that genetic variation and reduced expression of MSH3 decreases somatic expansion, delays onset and slow progression in HD. We also showed that these HD genetic modifiers also influence the course of other repeat expansion diseases, such as the spinocerebellar ataxias (SCA) and myotonic dystrophy type 1 (DM1). In collaboration with Dr Thalassinos (UCL Institue of Structural Biology) we are investigating the effect of these variants on protein structure, and interactions using mass spectrometry. GWAS also implicate a wider network of DDR proteins, particularly those involved in mismatch repair (MMR) and known to be involved in SI in HD mouse models, such as EXO1, PCNA, MLH1, PMS2, LIG1 and MLH3. We hypothesise that expanded CAG repeats form abnormal secondary DNA structures that are recognised as lesions, prompting the DDR to attempt repair.
In cell models we are investigating how genetic variation in FAN1 and MSH3 influences somatic expansion. We developed human U20S cells stably expressing disease-modifying FAN1 variants and a pathogenic HTT exon 1, discovering that FAN1 restrains CAG expansion in a dose-dependent manner. We are currently investigating the functional interactions between FAN1 and mismatch repair (MMR) proteins such as MLH1 and MSH3.
We have generated several patient-derived lymphoblastoid and induced pluripotent stem cell (iPSC) lines that show robust CAG repeat expansion in culture, and used them to demonstrate that FAN1 knockdown in medium spiny neurons (MSN) accelerates repeat expansion. We are using CRISPR to introduce disease-modifying MSH3 and FAN1 variation, as well as knockouts of each gene, to investigate the mechanism by which they influence SI in MSNs. In collaboration with Dr Balmus (DRI Cambridge), we will dissect the specific roles of individual proteins in SI using a CRISPR screen for targeted deletion of DDR components in iPSCs and differentiated cortical neurons. The identified modifiers will be potential candidates for biomarkers and therapeutic targets for repeat expansion diseases. Finally, we are working with several industry partners to develop different approaches to targeting the DDR and in particular lowering MSH3 expression. MSH3 is a particularly attractive therapeutic target as its loss is well tolerated in vivo and will work with the Bates lab to explore the therapeutic potential of modulating DDR proteins in mouse models of HD.

Publications

10 25 50
 
Description CHDI Foundation grant: Mechanism of the DNA damage response in Huntington's disease pathogenesis
Amount £753,654 (GBP)
Organisation CHDI Foundation 
Sector Charity/Non Profit
Country United States
Start 06/2018 
End 05/2021
 
Title 125Q iPSC derived from a Huntington's disease patient 
Description Patient-derived iPSCs generated by Censo with 125 CAG repeats. These cells show somatic instability in culture. 
Type Of Material Cell line 
Year Produced 2018 
Provided To Others? No  
Impact The ability to study somatic instability in culture. 
 
Title Bioinformatics 
Description Analysis of genetic modifiers and transcriptomics 
Type Of Material Technology assay or reagent 
Provided To Others? No  
Impact Publication in Nature Scientific Reports 
 
Title Cell models 
Description HEK, HeLa, SHSY5Y, U20S cells 
Type Of Material Cell line 
Provided To Others? No  
Impact Ongoing research into genetic modifiers 
 
Title Chromatin immunoprecipitation 
Description Protein-DNA interactions 
Type Of Material Technology assay or reagent 
Provided To Others? No  
Impact Ongoing research into genetic modifiers 
 
Title Juvenile-onset Huntington's disease lymphoblastoid cell line with 130 CAG repeats 
Description Lymphoblastoid cell line which shows robust somatic expansion in culture 
Type Of Material Cell line 
Year Produced 2017 
Provided To Others? No  
Impact Under evaluation in the lab 
 
Title Molecular biology 
Description Genetic manipulation in various cell lines 
Type Of Material Technology assay or reagent 
Provided To Others? No  
Impact Ongoing research in genetic modifiers 
 
Title iPSCs from repeat expansion diseases 
Description iPSC lines from SCA3 (x2), C9orf72 (x3) and FXS (x1) 
Type Of Material Cell line 
Year Produced 2019 
Provided To Others? No  
Impact No results yet 
 
Description ASO-mediated MSH3 knockdown 
Organisation Ionis Pharmaceuticals
Country United States 
Sector Private 
PI Contribution Testing the effect of ASO-mediated MSH3 knockdown on CAG expansion in 109 and 125 CAG iPSCs.
Collaborator Contribution Transfer of iPSC cells and intellectual input to research strategies
Impact N/a
Start Year 2019
 
Description Assessing effect of MSH3 repeat variation on MMR function 
Organisation The Hospital for Sick Children (SickKids)
Country Canada 
Sector Hospitals 
PI Contribution MMR function of patient-derived MSH3 protein will studied using in vitro slip-out repair assays in collaboration with the Hospital for Sick Children
Collaborator Contribution Culture cell lines and generate protein extracts used to assay for differences in DNA repair activity.
Impact None yet
Start Year 2019
 
Description Collaboration on DNA repair biology 
Organisation Vertex Pharmaceuticals
Country United States 
Sector Private 
PI Contribution Study design and all research work
Collaborator Contribution Provision of research funding. Strategic oversight and study design.
Impact none yet
Start Year 2019
 
Description DNA repair in HD 
Organisation University of Cambridge
Country United Kingdom 
Sector Academic/University 
PI Contribution Transfer of materials - iPSC lines which demonstrate somatic instability (SI) and controls, intellectual input for new grant application for CRISPR screen of DNA modifiers of SI
Collaborator Contribution Intellectual input to CRISPR strategies, protocols and reagents for CRISPR
Impact Too early to report outcomes
Start Year 2019
 
Description Develop a high Content Screening (HCS) platform for HD drug discovery. 
Organisation Takeda Pharmaceutical Company
Country Japan 
Sector Private 
PI Contribution Generative human iPSC-derived medium spiny neurons (MSNs) to develop a robust high-throughput in vitro platform for the screening of novel therapeutics for Huntington's disease.
Collaborator Contribution Research funding. Strategic oversight and study design. Provision of antisense oligonucleotide to determine HTT-dependency of phenotypes of HD patient iPSc derived medium spiny neurons
Impact None yet
Start Year 2017
 
Description Generate iPSCs from HD patients with disease-associated FAN1 and MSH3 variation. 
Organisation Censo Biotechnologies
Country United Kingdom 
Sector Private 
PI Contribution Collection and provision of blood samples for iPSC generation. Investigating the mechanisms underlying Huntington's disease, including genetic modifiers and somatic instability
Collaborator Contribution Generate iPSC cells from human blood samples
Impact None yet
Start Year 2018
 
Description Mechanism of the DNA damage response 
Organisation Cardiff University
Department Division of Psychological Medicine and Clinical Neurosciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Study design, secured funding and research
Collaborator Contribution Intellectual input on study design
Impact None yet
Start Year 2018
 
Description Mechanism of the DNA damage response in Huntington's disease pathogenesis and relevance for therapeutics 
Organisation University College London
Country United Kingdom 
Sector Academic/University 
PI Contribution Co-application for funding
Collaborator Contribution Co-application for funding
Impact Further funding: 2018-2021 CHDI Foundation grant: £753,654. Mechanism of the DNA damage response in Huntington's disease pathogenesis
Start Year 2018
 
Description Phase 3 GENERATION HD1 HTT lowering clinical trial 
Organisation F. Hoffmann-La Roche AG
Country Global 
Sector Private 
PI Contribution We commenced a global phase 3 trial, GENERATION HD1 (NCT03761849), in September 2018. Roche partnered with IONIS in 2013 and acquired the drug in 2017 for $45m, renaming it RG6042. 90 sites are running in 18 countries, dosing 660 HD subjects with manifest disease, aged 25-65, bimonthly or 4 monthly, with 120 mg or placebo at a 3:1 ratio, for a total of 25 months, followed by an open label extension. This trial has the potential to measure a clinically meaningful improvement in disease progression. The primary outcome measure in the global study is cUHDRS27, whilst in the US only, the primary endpoint is TFC, a component of cUHDRS which also correlates with functional measures. Given our finding that HTT lowering may also reduce CAG expansion in cell and mouse models, as well as investigating the underlying mechanism in the lab, we are developing assays to measure repeat expansion in trial CSF.
Collaborator Contribution Clinical trial sponsors central to trial design and oversight
Impact Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, Blair NF, Craufurd D, Priller J, Rickards H, Rosser A, Kordasiewicz HB, Czech C, Swayze EE, Norris DA, Baumann TF, Gerlach I, Schobel SA, Paz E, Smith AV, Bennett CF, Lane RM. Targeting Huntingtin Expression in Patients with Huntington's Disease. The New England Journal of Medicine. 2019 May doi: 10.1056/NEJMoa1900907
Start Year 2017
 
Title Somatic instability analysis program 
Description Software for fragment analysis 
Type Of Technology Software 
Year Produced 2018 
Impact Standardises fragment analysis in this lab and for collaborators 
URL https://caginstability.ml
 
Description 2018 UCL Neuroscience Symposium, London, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact 2018 UCL Neuroscience Symposium, London, UK (June). Presented talk 'Antisense oligonucleotide therapy for Huntington's disease - results from the first HTT lowering clinical trial'. Generated questions and interest in HD trials
Year(s) Of Engagement Activity 2018
 
Description Cotzias Prize Lecture - LXX Annual Meeting of the Spanish Society of Neurology (SEN 2018), Gran Sevilla Events Center, Seville, Spain 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Talk on to Spanish Neurological Society: 'Huntington's disease: natural history, biomarkers and novel therapeutic horizons'
Year(s) Of Engagement Activity 2018
 
Description Distinguished Lecture Series, University of Leuven, Belgium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Policymakers/politicians
Results and Impact Distinguished Lecture Series, University of Leuven, Belgium. Talk titled: Meeting the therapeutic challenge of Huntington's disease. Generated questions and further interest in research
Year(s) Of Engagement Activity 2019
 
Description FIL Brain Meeting, UCL, London, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact FIL Brain Meeting, The Wellcome Centre for Human Neuroimaging, UCL London, UK. Presented talk 'meeting therapetic challenge of Huntignton's disease'. Talk generated discussion and lively debate.
Year(s) Of Engagement Activity 2018
 
Description Genetic Therapies in Neurodegeneration: Cohorts, Targets and Approaches Symposium, UCL London, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Genetic Therapies in Neurodegeneration: Cohorts, Targets and Approaches Symposium, UCL, London, UK (May). Talk titled' Huntington's disease, results from the IONIS HTT Rx CS1 study - the first HTT lowering clinical trial'. Generated questions and interest in HD trials.
Year(s) Of Engagement Activity 2018
 
Description Great Ormond Street Hospital Neurosciences Meeting, London, UK (October) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Great Ormond Street Hospital Neurosciences Meeting, London, UK. Talk titled: Meeting Therapuetic Challenge of Huntington's Disease. Sparked questions and interest in involvement in clinical trials
Year(s) Of Engagement Activity 2018
 
Description Interview for BBC Radio 4 docmentary 'Sliencing the gene' 
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 on the ongoing Huntington's disease gene-lowering trials to promote research awareness for general public.
Year(s) Of Engagement Activity 2019
URL https://www.bbc.co.uk/sounds/play/m0009rhs
 
Description Interview with Mosaic Magazine 
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 Other audiences
Results and Impact Prof Sarah Tabrizi Interview with Mosaic Magazine re ongoing Huntington's disease trials. Serves to raise profile of research and the UCL Huntington's Disease Centre
Year(s) Of Engagement Activity 2017
URL https://mosaicscience.com/story/how-close-are-we-cure-huntingtons/
 
Description Keynote Lectures at 6th Gordon Research Seminar and Conference on CAG Triplet Repeat Disorders (GRS 2019), Il Ciocco, Italy (June) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Produced talk on ongoing titled 'Huntington's disease - trials and tribulations' and molecular pathogenesis to rational therapeutics. Talk presented by colleagues due to personal reasons. Sparked questions and debate.
Year(s) Of Engagement Activity 2019
 
Description Medicine at the Crick Inaugural Event - Gene and Genome Editing Therapy: A new challenge and opportunity in Clinical Medicine, London, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Postgraduate students
Results and Impact Medicine at the Crick Inaugural Event - Gene and Genome Editing Therapy: A new challenge and opportunity in Clinical Medicine, London, UK. Talk titled: 'Huntington's disease: RNA targetting therapy and prospects of gene therapy'. Talk generated questions and widened interest in HD research
Year(s) Of Engagement Activity 2018
 
Description Observer news article on Huntington diseae trials 03/03/2019 
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 Public/other audiences
Results and Impact Article on Huntington's disease therapies at current clinical trail. https://www.theguardian.com/science/2019/mar/03/huntingtons-disease-new-drug--families. Increased awareness of HD and generated interest in trial.
Year(s) Of Engagement Activity 2019
URL https://www.theguardian.com/science/2019/mar/03/huntingtons-disease-new-drug--families
 
Description Participated in filmed interview for Neuro Central and the Video Journal of Biomedicine 
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 Other audiences
Results and Impact Filmed interview regarding ongoing HD gene-lowering trials titled 'Genetic therapies for neurodegenerative diseases'.
Year(s) Of Engagement Activity 2019
URL https://www.neuro-central.com/2019/09/12/genetic-therapies-neurodegenerative-diseases-interview-sara...
 
Description Plenary Lecture at 15th Annual Update Conference on Clinical Neurology and Neurophysiology, Tel Aviv, Israel (February) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Plenary Lecture at 15th Annual Update Conference on Clinical Neurology and Neurophysiology, Tel Aviv, Israel. Talk title: Meeting the therapeutic challenge of Huntington's Disease. Form genetic modifiers to the first trial of antisense therapy. Talk presented by Prof Lanwehermeyer due Prof Tabrizi illness. Additional talk presented to patient and family groups. Generate questions and further interest in HD research trials.
Year(s) Of Engagement Activity 2019
 
Description Plenary Lecture at 32nd ECNP Congress of Applied and Translational Neuroscience, Copenhagen, Denmark (September) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presented talk titled 'Novel therapeutic principles against CNS disorders'. Talk sparked questions and discussions and trial enquiries.
Year(s) Of Engagement Activity 2019
 
Description Plenary Lecture at British Society for Genetic Medicine Annual Conference - UK Clinical Genomics 2018, London, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Plenary Lecture at British Society for Genetic Medicine Annual Conference - UK Clinical Genomics 2018, London. Talk entitled: `Meeting the therapeutic challenge of Huntington's disease'. Generated questions and interest in research and trials
Year(s) Of Engagement Activity 2018
 
Description Plenary Lecture at the 10th EHDN Plenary Meeting, Vienna, Austria 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Plenary Lecture at the 10th EHDN Plenary Meeting, Vienna, Austria. Presented results of ongoing HTT lowering trials to scientists, patients, industy. Generated questions and interest in developing/participating the clinical trial
Year(s) Of Engagement Activity 2018
 
Description Plenary Lecture at the ABN 2018 Annual Meeting, Birmingham, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Plenary Lecture at the ABN 2018 Annual Meeting, Birmingham, UK. Talk titled: 'Antisense oligonucleotide therapy for Huntington's disease - results from the first HTT lowering clinical trial'. Generated questions and interest in HD trials
Year(s) Of Engagement Activity 2018
 
Description Plenary Lecture at the Alzheimer's Society Annual Conference, London, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Plenary Lecture at the Alzheimer's Society Annual Conference, London, UK. Presented talk entitled: Meeting the therapeutic challenge in Huntington's disease and other forms of dementia'
Year(s) Of Engagement Activity 2018
 
Description Plenary Lecture at the UK-Japan Neuroscience Symposium, Royal Society, London, UK (March) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Plenary Lecture at the UK-Japan Neuroscience Symposium, Royal Society, London, UK; Presented talk titled: 'Meeting the therapeutic challenge in Huntington's disease'
Year(s) Of Engagement Activity 2018
 
Description Presentation at Research & Innovation 2019 (ELRIG 2019) Conference, Cambridge (April) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Industry/Business
Results and Impact Presented talk titled Huntingtin lowering strategies for disease modification in Huntington's disease. Sparked questions and discussion.
Year(s) Of Engagement Activity 2019
 
Description Presentation at HDF conference, Boston 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presented research on MSH3 as a genetic modifier of Huntington's disease course and somatic instability in Boston
Year(s) Of Engagement Activity 2018
URL http://www.hdfoundation.org
 
Description Presentation at The Leonard Wolfson Experimental Neurology Centre (LWENC) Research Programme Symposium, London, UK (June) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Presented talk titled 'Genetic therapies for Huntington's disease'. Spark questions and discussion
Year(s) Of Engagement Activity 2019
 
Description Presentation of posters on FAN1 and MSH3 as modifiers of somatic instability and Huntington's disease, HD therapeutics conference, Palm Springs 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Formal presentation of our research on FAN1 and MSH3 as genetic modifiers of somatic instability and disease course in Huntington's disease
Year(s) Of Engagement Activity 2019
 
Description Presented Academy of Medical Sciences Jean Shanks Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Presented lecture titled 'New therapies for Huntington's disease, is the endgame in sight?'. Talk generated questions and discussion
Year(s) Of Engagement Activity 2019
URL https://acmedsci.ac.uk/more/events/annual-fellows-meeting-and-dinner-2019
 
Description Presented Lecture at CHDI Conference in Palm Springs (Feb 2020) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presented talk titled 'Defining whether there is a boundary of normality decades before clinical onset in Huntington's Disease: the Young Adult Study'
Year(s) Of Engagement Activity 2020
 
Description Presented Symposium on Neurology, Royal College of Physicians of Edinburgh, Edinburgh, UK (November) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Presented talk titled 'Gene targeting therapies - what does the future hold for neurological disorders?'. Talk sparked discussion and questions
Year(s) Of Engagement Activity 2019
 
Description Presented a talk at the Cambridge Society for the Application of Research 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Postgraduate students
Results and Impact Presented talk titled: 'Gene targeting therapies - what does the future hold for neurological disorders?' Talk generated questions and discussion
Year(s) Of Engagement Activity 2020
 
Description Presented lecture at Birmingham Academic Neurology Seminar, Brimingham (July) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presented talk titled 'Pioneering genetic therapies for Huntington's Disease'. Talk sparked discussion and debates.
Year(s) Of Engagement Activity 2019
 
Description Presented talk at International Congress of Parkinson's Disease and Movement Disorders, International Parkinson and Movement Disorder Society, Nice, France (September) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presented talk titled 'Current and future therapies for Huntington's disease'. Talk sparked questions, discussions and enquiries about future research
Year(s) Of Engagement Activity 2019
 
Description Presented talk at Vertex Pharma Oxford Sciend Day (November) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Industry/Business
Results and Impact Presented talk: 'Huntington's disease - from bench to bedside'. Talk generated discussion and questions
Year(s) Of Engagement Activity 2019
 
Description Press conference at American Academy of Neurology Conference, Los Angeles following presentation of HTT lowering phase 1/2a clinical trial results. 
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 Professional Practitioners
Results and Impact Press conference at American Academy of Neurology Conference following presentation of HTT lowering phase 1/2a clinical trial results. Conference generated questions from media an a plethora of subsequent scientific news articles
Year(s) Of Engagement Activity 2018
 
Description Press release for publication of New England Journal of Medicine paper 
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 Professional Practitioners
Results and Impact Press release to accompany publication of results from the successful safety trial of a therapeutic for Huntington's disease. The release raised awareness of important research and resulted in enquiries to participate in research.
Year(s) Of Engagement Activity 2019
URL https://www.sciencedaily.com/releases/2019/05/190506150103.htm
 
Description Prof Raymund Roos Farewell Symposium - From bed to bench and back to the future: Huntington's disease, Leiden, The Netherlands 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Prof Raymund Roos Farewell Symposium - From bed to bench and back to the future: Huntington's disease, Leiden, The Netherlands. Presented talk entitled 'The future clinics of Huntington's disease'. Generated questions and sparked debate,
Year(s) Of Engagement Activity 2018
 
Description Royal Society and Academy of Medical Sciences Conference `Delivering Novel Therapies in the 21st Century', London, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Royal Society and Academy of Medical Sciences Conference `Delivering Novel Therapies in the 21st Century', London, UK. Presented talk entitled 'ASO Therapies for Huntington's Disease. Results from the first HTT lowering trial'. Talk generated discussion and further interest in clinical trial
Year(s) Of Engagement Activity 2018
 
Description Royal Society of Medicine 17th Medical Innovations Summit, London, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Royal Society of Medicine 17th Medical Innovations Summit, London, UK. Presented talk entiteld 'Meeting the therapeutic challenge of Huntington's disease'. Generated questions and interest in Huntington's disease reserach and trials
Year(s) Of Engagement Activity 2018
 
Description Seminar at UCB Pharma, Belgium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact Talk and roundtable discussion at UCB Pharma on their potential involvement in Huntington's disease research and potential future collaboration.
Year(s) Of Engagement Activity 2018
 
Description UCL Medical Society, London 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact UCL Medical Society, London, UK. Presented talk entitled 'meeting therapeutic challenge of Huntington's disease'. Sparked lively debate and widen knowldege and interest in clinical trial
Year(s) Of Engagement Activity 2018
 
Description Wellcome Researcher Meeting: Neuroscience and Mental Health, Coventry, UK 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Wellcome Researcher Meeting: Neuroscience and Mental Health, Coventry, UK. Talk titled: 'Antisense oligonucleotide therapy for Huntington's disease - results from the first HTT lowering clinical trial'.. Generated questions re HD research trials
Year(s) Of Engagement Activity 2018
 
Description Women in Science Seminar Series, University of Sussex Falmer, Brighton, 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Women in Science Seminar Series, University of Science, Falmer, Brighton, UK. Presented talk titled 'meeting therapeutic challenge of Huntignton's disease'. Talk generated questions and interest in HD research
Year(s) Of Engagement Activity 2018
 
Description • DZNE Lecture Series 2018, Bonn, Germany 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact DZNE Lecture Series 2018, Bonn, Germany (June). Presented talk titled: Meeting the therapeutic challenge in Huntington's disease'. Generated interest in HD trials and questions about further collaboration
Year(s) Of Engagement Activity 2018