RNA metabolism in pathology of AOA2/ALS4 neurodegenerative disorders

Lead Research Organisation: University of Oxford
Department Name: Sir William Dunn Sch of Pathology

Abstract

All living organisms contain genetic information in a form of genes, which code for proteins - key building blocks of life. During the process of gene expression information from the gene, encoded in a DNA sequence is transferred into messenger RNA (transcription) followed by removal of non-coding intervening sequences (splicing), and decoding of this molecule into protein (translation). Each gene expression step is subjected to multiple regulatory events ensuring that the final protein product is correct. Now it became clear that key regulatory elements in gene expression are represented by the RNA. In this research project we will investigate the mechanism underlying the pathology of ataxia oculomotor apraxia type 2 (AOA2) and amyotrophic lateral sclerosis type 4 (ALS4), highly disabling inherited disorders, characterized by degeneration in the brain and spinal cord, causing progressive muscle weakness and finally atrophy. The gene mutated in these diseases encodes a protein called senataxin. Since the discovery of AOA2/ALS4 mutations in 2004, little progress has been made to characterize the function of senataxin protein or molecular mechanisms of AOA2/ALS4 pathology.
To study the function of senataxin protein in human cells, we will combine our expertise in RNA field with cutting edge high throughput technology in gene expression. In particular, we will perform experiments in human cells, which lack senataxin or were derived from patients' tissues. We hypothesise that AOA2/ALS4 pathologies arise due to defects in senataxin function associated with resolving connections between RNA and DNA, appearing during the process of transcription. If RNA/DNA molecules are not resolved properly, their accumulation can be detrimental to the cells causing pathologies. Initially, we will characterise the defects in transcription and RNA processing observed in cells with senataxin mutations using modern technologies analysing whole cell genome. We will also determine if RNA/DNA profile is perturbed in AOA2/ALS4 patients, and how it contributes to neurodegeneration. Furthermore, we will investigate the role of senataxin in transcription and RNA splicing. We will also identify new senataxin-interacting partners and study their contribution towards gene expression process and AOA2/ALS4 pathology.
Our project focuses on the function of senataxin, providing molecular clues for the pathology of AOA2/ALS4 diseases. It's becoming apparent that RNA processing may represent a common pathogenic mechanism involved in many neurodegenerative disorders. Around 50% of all characterised human genetic diseases are associated with inappropriate transcription/RNA processing. This emphasises the importance of fundamental molecular biology approach of our research towards understanding AOA2/ALS4 pathology. Therefore, the development of novel RNA-based therapies, improving the health and quality of life of AOA2/ALS4 and other neurodegenerative patients with defects of RNA processing, is a likely prospect of our research.

Technical Summary

Ataxia oculomotor apraxia type 2 (AOA2) and amyotrophic lateral sclerosis type 4 (ALS4), are highly disabling disorders, characterised by neurodegeneration in the brain and spinal cord, causing progressive muscle weakness and finally atrophy, arising due to mutations in human senataxin protein. Senataxin shares homology with the yeast RNA/DNA helicase Sen1p and it has been suggested that senataxin may be involved in the regulation of gene expression. This research project will uncover molecular function of human senataxin protein using a combination of our expertise in RNA field and the cutting edge high throughput technology. In the first part of this project we will study transcriptional and RNA processing defects associated with AOA2/ALS4 mutations genome-wide. We propose that the function of senataxin in human cells is related to its RNA/DNA helicase function and its ability to unwind RNA/DNA hybrids (or R-loops) formed between nascent RNA transcripts and single stranded DNA template behind the elongating Pol II. We will investigate the effect of senataxin on genome-wide distribution of R-loops and study their contribution to the neurodegenerative phenotype, employing Solexa sequencing following DNA-immuno-precipitation (DIP-seq). Secondly, we will define the molecular functions of R-loops and senataxin in splicing regulation. Finally,we will identify novel RNA and protein senataxin-interacting partners, using mass-spectrometry and iCLIP approach, followed by the study of their function in gene expression and AOA2/ALS4 pathology. The long term goal of our work is to create a foundation for the collaboration between basic and clinical science beneficial to therapeutic advancement of AOA2/ALS4 diseases and development of novel molecular therapies, improving the health and quality of patients' life.

Planned Impact

The outcome of this research project will be beneficial to all AOA2/ALS4 patients affected by mutations in senataxin protein and also to neurologists and clinical geneticists, directly involved in treating these patients. Since the discovery of senataxin mutations in 2004, little is known about genotype/phenotype correlation in AOA2/ALS4 patients, making the correct diagnosis of these diseases in hospital practice quite laborious and difficult. Our work will make a major contribution to this knowledge, making the strategy for diagnosis of these diseases more efficient.
Development of any therapeutic treatments for AOA2/ALS4 patients bas been hampered by the lack of understanding of molecular role of senataxin protein in humans. This project will investigate the function of senataxin in human cells and therefore shed the light on the underlying pathology of AOA2 disease, which may ultimately provide new targets for therapeutic treatment. In the long term, we are hoping to have an impact on treatment practices of these diseases.
Proposed research project will be instrumental in the initiation of public awareness of human genetic disease research and corresponding therapeutic approaches. In particular, during the NIRG, we intend to communicate about the AOA2/ALS4 diseases to patients and healthy individuals through our research publications, scientific presentations and outreach work with the help of University of Oxford and Ataxia UK, Motor Neuron Disease Association and National Ataxia Foundation charities. The results of this research project are likely to have a big impact on the national health, thus enhancing quality of life and health of patients.
 
Description Ataxia Uk reserach grant
Amount £35,000 (GBP)
Organisation Ataxia UK 
Sector Charity/Non Profit
Country United Kingdom
Start 02/2019 
End 02/2021
 
Description Biochemical Society UK
Amount £4,000 (GBP)
Funding ID Conference grant to support RNA UK 2016 conference, where i was the main organiser 
Organisation Biochemical Society 
Sector Learned Society
Country United Kingdom
Start 01/2016 
End 02/2016
 
Description John Fell Research Award
Amount £93,958 (GBP)
Funding ID BVD07340 
Organisation University of Oxford 
Sector Academic/University
Country United Kingdom
Start 10/2014 
End 10/2016
 
Description Lundbeck Foundation Fellowship
Amount kr 551,313 (DKK)
Funding ID R126-2012-12263 
Organisation Lundbeck Foundation 
Sector Charity/Non Profit
Country Denmark
Start 11/2013 
End 11/2015
 
Description National Ataxia Foundation Research Pilot Grant
Amount $14,600 (USD)
Organisation National Ataxia Foundation 
Sector Charity/Non Profit
Country United States
Start 10/2009 
End 10/2010
 
Description Returning Carers' Fund
Amount £5,000 (GBP)
Organisation University of Oxford 
Sector Academic/University
Country United Kingdom
Start 06/2018 
End 01/2019
 
Description Rosetrees grant award
Amount £40,000 (GBP)
Funding ID M828 
Organisation Rosetrees Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 02/2019 
End 02/2021
 
Description Royal Society Research Fellows Enhancement Award
Amount £100,000 (GBP)
Funding ID RG/EA/180023 
Organisation The Royal Society 
Sector Academic/University
Country United Kingdom
Start 12/2017 
End 03/2021
 
Description Royal Society Research grant
Amount £14,400 (GBP)
Organisation The Royal Society 
Sector Academic/University
Country United Kingdom
Start 10/2012 
End 10/2013
 
Description Royal Society University Research Fellowship
Amount £496,345 (GBP)
Organisation The Royal Society 
Sector Academic/University
Country United Kingdom
Start 10/2011 
End 10/2016
 
Description Royal Society University Research fellowship extension
Amount £333,000 (GBP)
Funding ID URF150656 
Organisation The Royal Society 
Sector Academic/University
Country United Kingdom
Start 10/2016 
End 09/2019
 
Title R-loop immunoprecipitation 
Description This methodology was developed in the group to identify R-loop-binding factors (R-loop proteome) in unbiased way from human cells 
Type Of Material Technology assay or reagent 
Year Produced 2018 
Provided To Others? Yes  
Impact Great impact in the field of R-loop biology, in health and disease conditions. This technique will be indispensable when studying the biology of R-loop-binding factors 
 
Title R-loop proteome database 
Description The R-loop proteome contains R-loop binding proteins of high confidence in HeLa cells. It is currently deposited into publically available PRIDE database 
Type Of Material Database/Collection of data 
Year Produced 2018 
Provided To Others? Yes  
Impact This database will allow the researches to have information about R-loop-binding factors in HeLa cells 
 
Description Collaboration on FRDA project 
Organisation Medical Research Council (MRC)
Department MRC Clinical Sciences Centre (CSC)
Country United Kingdom 
Sector Academic/University 
PI Contribution We carried out nascent transcriptional analysis on FXN gene for this collaboration
Collaborator Contribution The whole project is driven by group in Imperial College London
Impact Currently we are preparing paper for PLOS Genetics, describing the results of our collaborative work
Start Year 2013
 
Description Collaboration on R-loop project related to generation of large deletions 
Organisation University of Sussex
Country United Kingdom 
Sector Academic/University 
PI Contribution We provided our expertise in R-loop biology and specifically carrying out DIP experiments
Collaborator Contribution The collaborators are really driving this project
Impact We have just published a paper together: Large XPF-dependent deletions following misrepair of a DNA double strand break are prevented by the RNA:DNA helicase Senataxin. Brustel J, Kozik Z, Gromak N, Savic V, Sweet SMM. Sci Rep. 2018 Mar 1;8(1):3850. doi: 10.1038/s41598-018-21806-y.
Start Year 2016
 
Description Collaboration on post-translational modifications of R-loops 
Organisation University of Nottingham
Department University of Nottingham Museum
Country United Kingdom 
Sector Academic/University 
PI Contribution We are providing the expertise and reagents required for the study of R-loops
Collaborator Contribution Our partners are providing the expertise on m6A post-translational modifications
Impact Currently the manuscript describing the results of our collaborative work is under the review in Nature Genetics journal
Start Year 2018
 
Description Collaboration on the mechanisms of double strand break formation in non-replicating cells 
Organisation University of Toulouse
Country France 
Sector Academic/University 
PI Contribution We provide the expertise and reagents required to study R-loops
Collaborator Contribution The partners provide the expertise in double strand breaks
Impact Currently the paper describing this collaborative work in under the review in Molecular Cell journal.
Start Year 2018
 
Description Collaboration on the role of R-loops in Hippo signalling pathway (with Dafni Pefani, from Eric O'Neil' s lab , Univeristy of Oxford) 
Organisation University of Oxford
Department Rudolf Peierls Centre for Theoretical Physics
Country United Kingdom 
Sector Academic/University 
PI Contribution We contribute with our expertise and various reagents available in the lab related to R-loop biology
Collaborator Contribution The partners provide a contribution to the study of HIppo signalling pathway, which is their primary expertise.
Impact There is no outputs yet.
Start Year 2018
 
Description Identifying new molecular mechanisms of replication stress for cancer therapy 
Organisation University of Birmingham
Country United Kingdom 
Sector Academic/University 
PI Contribution We are carrying out DIP procedure following RAS -driven induction in human cells
Collaborator Contribution This project is fully driven by our collaborators, we are contributing with the DIP technique established in our lab
Impact We have published a paper together: Increased global transcription activity as a mechanism of replication stress in cancer. Kotsantis P, Silva LM, Irmscher S, Jones RM, Folkes L, Gromak N, Petermann E. Nat Commun. 2016 Oct 11;7:13087. doi: 10.1038/ncomms13087.
Start Year 2014
 
Description Role of ATRX in R-loop biology 
Organisation University of Oxford
Department Weatherall Institute of Molecular Medicine (WIMM)
Country United Kingdom 
Sector Public 
PI Contribution We are testing the role of R-loops in ATRX recruitment. In particular, we are carrying out DIP experiments in RNase H1 knock-down cells
Collaborator Contribution Our collaborators established the importance of R-loops in recruitment to ATRX protein
Impact We are currently performing experiments which are likely to contribute to a figure in a joint paper.
Start Year 2015
 
Description Role of PRMT1 protein in R-loop biology 
Organisation Curie Institute Paris (Institut Curie)
Country France 
Sector Academic/University 
PI Contribution We are currently using DIP experiments to study the contribution of PRMT1 to R-loop biology in triple-negative cancer cell lines
Collaborator Contribution Our collaborators have generated PRMT1 KD cells and purified genomic DNA samples for us to do DIP experiments.
Impact We are hoping to write a joint paper by the end of 2016
Start Year 2015
 
Description Cold Spring Harbour, USA, RNA processing conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Poster presentation entitled 'The R-loop proteome in human cells'. My presentation sparked discussion with scientists working in the same field and as a result of this I started a couple of collaborations
Year(s) Of Engagement Activity 2015
 
Description Conference presentation 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Conference presentation at ,RNA and disease, conference in Windsor 2016
Year(s) Of Engagement Activity 2016
 
Description Conference presentation at 'Transcription- replication crosstalk' in ROSCOFF, France 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Conference talk which stimulated collaborative work with other researchers
Year(s) Of Engagement Activity 2016
 
Description International Reseacrh Ataxia Conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Talk presentation entitled 'R-loop Function in pathology of Friedreich ataxia and implications for other expansion diseases' at the International Ataxia Research conference, Windsor, UK. The presentation has resulted in exchange of scientific ideas with my colleagues working in the same field and establishment of new scientific collaborations
Year(s) Of Engagement Activity 2015
 
Description Invitation to chair a session at a EMBO workshop on RNA and genome maintanence: Cooperation and conflict resolution. Mainz, Gemany. October 2018 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact I was invited to chair session on R-loops by the conference organizers.
Year(s) Of Engagement Activity 2018
URL http://meetings.embo.org/event/18-rna-genome
 
Description Invited Seminar Department of Biochemistry, University of Cambridge 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Invited Departmental seminar entitled: R-loops: unusual RNA/DNA structures and their role in health and disease' at the Department of Biochemistry, University of Cambridge. This seminar has allowed scientific discussions with people working in different fields and resulted in exchange of scientific reagents
Year(s) Of Engagement Activity 2015
 
Description Invited at Hallmarks of cancer conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Study participants or study members
Results and Impact Invited talk entitled ' The R-loop proteome uncovers novel links between genome instability and human disease' at the International symposium: Hallmarks of cancer: focus on RNA. Institute Curie, Paris, France (October 2015). My talk spackled a lot of scientific discussions and as a result of this presentation I established important collaboration.
Year(s) Of Engagement Activity 2015
 
Description Invited departmental seminar at the Dunn School of Pathology 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Geographic Reach Local
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact I established new collaborations and received very good suggestions to carry out certain experiments

A number of students were interested in visiting my lab and carrying out their rotation projects with me
Year(s) Of Engagement Activity 2014
 
Description Invited presentation at the regional Royal Society, 19th February 2015 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Exchanged ideas with Royal Society current and past Fellows. Established collaborations outside of my area of expertise

Established collaborations outside of my area of expertise
Year(s) Of Engagement Activity 2015
 
Description Invited seminar at the Institute of Neurology, University College London (UK). 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Type Of Presentation Paper Presentation
Geographic Reach Local
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Departmental seminar at the Institute of Neurology, University College London (UK).
Talk: RNA biology in neurodegeneration.

Establishment of collaborations. As a result of this seminar, i was asked to write a review on the topic of my seminar for PLOS Genetics journal
Year(s) Of Engagement Activity 2012
 
Description Invited seminar at the Vertex Pharmaceuticals, January 2018 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Third sector organisations
Results and Impact Invited seminar at a pharmaceutical company to discuss potential collaborative avenues of research and discuss the current state of the field
Year(s) Of Engagement Activity 2018
 
Description Invited seminar in Kings College London (Department of Basic and Clinical Neuroscience) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Supporters
Results and Impact My talk stimulated conversations about potential future collaborations

Post-graduate students were interested to join my laboratory
Year(s) Of Engagement Activity 2014
 
Description Invited speaker at a conference ;3;end formation; Oxford, 20-24 September 2017 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact A lot of collaborative work has appeared due to my presentation at this conference
Year(s) Of Engagement Activity 2017
 
Description Invited speaker at the London RNA club, April 2016 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact This activity resulted in establishment of new collaborators
Year(s) Of Engagement Activity 2016
 
Description Invited talk at the 'RNA meets DNA' conference in Baeza, Spain 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact I established a number of very interesting collaborations with international researches

I was able to share the results of my research with wider international community
Year(s) Of Engagement Activity 2014
 
Description Lecturing at Graduate GABBA course 'Regulation of Gene Expression', University of Porto (Portugal) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Postgraduate students
Results and Impact 2010-2015 Graduate GABBA course 'Regulation of Gene Expression'. Delivering lectures and paper dissections to the 1st year PhD students in Molecular and Cell biology. University of Porto (Portugal).

Exposure of students from Portugal to cutting edge research in Gene expression.
Year(s) Of Engagement Activity 2010,2011,2012,2013,2014
 
Description Presentation at International Ataxia Research Conference, 25-28 May 2015 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact My presentation stimulated establishment of collaborations

I have met a number of interesting researchers and exchanged scientific ideas.
Year(s) Of Engagement Activity 2015
URL https://www.ataxia.org.uk/international-research-conference
 
Description Presentation at Oxford Ataxia Group meeting, University of Oxford 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? Yes
Type Of Presentation Paper Presentation
Geographic Reach Local
Primary Audience Participants in your research and patient groups
Results and Impact Presentation at Oxford Ataxia Group meeting.
Title: Molecular function of human senataxin protein in pathology of AOA2/ALS4 diseases.

Exchange of scientific ideas
Year(s) Of Engagement Activity 2011
 
Description Presentation at the Oxford Transcription Meeting 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Presentation entitled 'Transcriptional mis-regulation in neurodegenerative disorders' at the Oxford Transcription Meeting. The presentation resulted in exchange of scientific information with Oxford colleagues working in transcription field.
Year(s) Of Engagement Activity 2015
 
Description Presentation at the Oxford Transcription meeting, December 2017 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Presentation resulted in establishment of new collaborations and sharing of unpublished information
Year(s) Of Engagement Activity 2017
 
Description Presentation at the Royal Society Regional conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Study participants or study members
Results and Impact Presentation entitled ,Neurodegenerative diseases' at the Royal Society regional conference. University of Oxford. The study stimulated scientific discussions with other Royal Society fellows from different disciplines
Year(s) Of Engagement Activity 2015
 
Description RNA UK 2016 conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Postgraduate students
Results and Impact Presentation entitled 'The R-loop interactome in Human Cells' at the RNA UK Conference, Windermere, UK (January 2016). This presentation resulted in exchange in scientific data and establishment of scientific collaborations.
Year(s) Of Engagement Activity 2016
 
Description Royal Society Early Career Researchers Workshop. June 2018 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact Workshop organized by the Research Services of the University of Oxford, who invited me t speak about my Royal Society University Research Fellowship to Post-docs who were interested in applying for similar Career development opportunities.
Year(s) Of Engagement Activity 2018
 
Description Royal Society Research Conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Following my talk at this conference, i established new collaborations with people outside of my field

I learned a lot about research in other fields and established new collaborations
Year(s) Of Engagement Activity 2014
 
Description Royal Society Research Conference , Meeting of the minds'. June 2018. 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Conference organized by a Royal Society. New collaborations established.
Year(s) Of Engagement Activity 2018
 
Description Science outreach for ataxia patients 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact Around 50 patients attended 2015 Ataxia UK Annual Conference" 2nd - 3rd October 2015 and my student Matthias Groh presented the poster at the "Meet the Researchers - 10 ataxia researchers discuss their work" session on the 3rd October. This presentation sparked the discussion with patients, and resulted in their better understanding of the ataxia and its underlying molecular mechanisms
Year(s) Of Engagement Activity 2015
 
Description Seminar in the University of Birmingham 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Postgraduate students
Results and Impact This activity resulted in establishment of new collaborations
Year(s) Of Engagement Activity 2016
 
Description Seminar invitation: Unviersity of Nottingham. May 2018 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Invited Departmental Seminar on biology of R-loops at the Nottingham University, Wolfson Center for Stem Cells, Tissue Engineering and Modelling (STEM). My seminar resulted in establishment of collaboration with the group of Dr. Alexey Ruzov.
Year(s) Of Engagement Activity 2018
 
Description Seminar invitationg: CR-UK /MRC Oxford Institute for Radiation Oncology. June 2018. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Invited seminar at the CR-UK /MRC Oxford Institute for Radiation Oncology. June 2018. New ideas were discussed and collaborations established.
Year(s) Of Engagement Activity 2018
 
Description Talk at Oxford Ataxia Group Meeting, University of Oxford 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? Yes
Type Of Presentation Paper Presentation
Geographic Reach Local
Primary Audience Participants in your research and patient groups
Results and Impact Presentation at Oxford Ataxia Group Meeting.
Title: R-loops in transcriptional regulation of trinucleotide expansion diseases.

Exchange of scientific ideas
Year(s) Of Engagement Activity 2012