Investigating deficits of axonal RNA metabolism and axonal signalling in amyotrophic lateral sclerosis
Lead Research Organisation:
University College London
Department Name: Institute of Neurology
Abstract
Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease (MND), is a devastating neurodegenerative disorder which causes progressive loss of muscle function and paralysis. ALS is incurable and leads to death, usually caused by the inability to breathe, on average only 3 years after diagnosis, with a lifetime risk of about 1 in 400.
The main cells affected in this disease are nerve cells called motor neurons (MNs), which progressively die during the course of ALS. MNs are amongst the largest cells of the body and connect the brain and the spinal cord to the muscles therefore making movement possible. In order to do this, MNs rely on one thin process, named the axon, which extends from the spinal cord out to each and every muscle of our body. In adults, a single axon can measure over a meter, running from the spinal cord to our fingers or toes, and needs sophisticated transport and communication systems to survive and function.
Importantly, research has shown that abnormalities in axons are found in the very early stages of ALS and other incurable human diseases. All cells in an individual's body, although very diverse from each other, contain the same genetic material called DNA, that gives instructions to each individual cell. Therefore the identity of each cell type (whether a MN or a heart cell, for example) is the result of which portions of DNA are active and produce another type of chemical called RNA. RNA carries all the necessary information for the cell to function. The sum of all the RNA in a cell, named the transcriptome, is the signature that characterises each cell type.
Knowing the transcriptome of a certain cell type provides insights into its biology and helps determine the causes of diseases. This is particularly relevant with MNs in ALS since there is good evidence showing that the biological processes linked to RNA 'metabolism' are primarily affected in ALS.
Further, RNA is transported in axons and this is essential for axon maintenance and its response to injuries.
The findings summarized above, highlighting that: 1) axons are involved in early stages of disease; and 2) ALS is caused by alterations of the RNA repertoire in MNs, alongside with novel preliminary data from my Sponsor's laboratory which shows that 3) key ALS molecules localise to cellular organelles which are involved in the communication system of axons, all converge to form my research questions.
I will use a novel animal model of ALS to investigate:
a) Which changes occur in the RNA of axons;
b) How these changes can play a role in ALS;
c) How the communication system between axons and the cell body is affected in ALS.
The feasibility of this project is ensured by the recent technological advances provided by my Sponsor's laboratory and collaborators. These cutting edge approaches will allow me to isolate and study RNA specifically found in MNs and their axons. Further, I will be able to isolate the small particles that contribute to transmitting survival signals in MN axons.
In summary this project will contribute to understand how axons function normally and what goes wrong in ALS. This will greatly help us to understand disease mechanisms and discover novel targets for effective therapies for ALS.
The main cells affected in this disease are nerve cells called motor neurons (MNs), which progressively die during the course of ALS. MNs are amongst the largest cells of the body and connect the brain and the spinal cord to the muscles therefore making movement possible. In order to do this, MNs rely on one thin process, named the axon, which extends from the spinal cord out to each and every muscle of our body. In adults, a single axon can measure over a meter, running from the spinal cord to our fingers or toes, and needs sophisticated transport and communication systems to survive and function.
Importantly, research has shown that abnormalities in axons are found in the very early stages of ALS and other incurable human diseases. All cells in an individual's body, although very diverse from each other, contain the same genetic material called DNA, that gives instructions to each individual cell. Therefore the identity of each cell type (whether a MN or a heart cell, for example) is the result of which portions of DNA are active and produce another type of chemical called RNA. RNA carries all the necessary information for the cell to function. The sum of all the RNA in a cell, named the transcriptome, is the signature that characterises each cell type.
Knowing the transcriptome of a certain cell type provides insights into its biology and helps determine the causes of diseases. This is particularly relevant with MNs in ALS since there is good evidence showing that the biological processes linked to RNA 'metabolism' are primarily affected in ALS.
Further, RNA is transported in axons and this is essential for axon maintenance and its response to injuries.
The findings summarized above, highlighting that: 1) axons are involved in early stages of disease; and 2) ALS is caused by alterations of the RNA repertoire in MNs, alongside with novel preliminary data from my Sponsor's laboratory which shows that 3) key ALS molecules localise to cellular organelles which are involved in the communication system of axons, all converge to form my research questions.
I will use a novel animal model of ALS to investigate:
a) Which changes occur in the RNA of axons;
b) How these changes can play a role in ALS;
c) How the communication system between axons and the cell body is affected in ALS.
The feasibility of this project is ensured by the recent technological advances provided by my Sponsor's laboratory and collaborators. These cutting edge approaches will allow me to isolate and study RNA specifically found in MNs and their axons. Further, I will be able to isolate the small particles that contribute to transmitting survival signals in MN axons.
In summary this project will contribute to understand how axons function normally and what goes wrong in ALS. This will greatly help us to understand disease mechanisms and discover novel targets for effective therapies for ALS.
Technical Summary
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a relentlessly progressive neurodegenerative disorder, which causes loss of motor neurons (MN) leading to paralysis and ultimately death. It is currently untreatable, hence there is a desperate need for understanding its underlying mechanisms to develop novel and effective therapeutic strategies.
Published research and preliminary data show that: 1) RNA metabolism alterations play a role in ALS; 2) MN axons are affected in the early stages of disease; 3) axonal RNA transport is altered in ALS and deficits in axonal RNA localisation make axons more susceptible to noxious stimuli; 4) key ALS proteins associate with signalling endosomes (SEs), endosomal organelles which are responsible for axonal signalling and transport of survival messages.
These observations converge to define my research questions. I will investigate:
a) the axonal RNA changes occurring in ALS;
b) the mechanisms contributing to these changes, with a focus on RNA stress granules (cytoplasmic bodies, altered in ALS, where RNAs are protected during cell stress);
c) the novel link between key ALS proteins and axonal signalling.
In order to do so, I will combine the cutting edge tools and unique resources available in my Sponsor's laboratory and through collaborators. I will isolate MNs from a unique novel ALS mouse model which expresses an aggressive ALS-causative FUS mutation at physiological levels. I will then use microfluidic chambers and the UPRT RNA tagging technology in order to specifically isolate axonal RNA from MNs; I will then analyse SEs using magnetic isolation techniques and quantitative proteomics.
Finally I will be able to validate my results using differentiated MNs derived from human iPSC isolated from ALS patients. These findings will be further tested in patient tissue and will be paramount for the identification of novel pathways and potential therapeutic targets in ALS.
Published research and preliminary data show that: 1) RNA metabolism alterations play a role in ALS; 2) MN axons are affected in the early stages of disease; 3) axonal RNA transport is altered in ALS and deficits in axonal RNA localisation make axons more susceptible to noxious stimuli; 4) key ALS proteins associate with signalling endosomes (SEs), endosomal organelles which are responsible for axonal signalling and transport of survival messages.
These observations converge to define my research questions. I will investigate:
a) the axonal RNA changes occurring in ALS;
b) the mechanisms contributing to these changes, with a focus on RNA stress granules (cytoplasmic bodies, altered in ALS, where RNAs are protected during cell stress);
c) the novel link between key ALS proteins and axonal signalling.
In order to do so, I will combine the cutting edge tools and unique resources available in my Sponsor's laboratory and through collaborators. I will isolate MNs from a unique novel ALS mouse model which expresses an aggressive ALS-causative FUS mutation at physiological levels. I will then use microfluidic chambers and the UPRT RNA tagging technology in order to specifically isolate axonal RNA from MNs; I will then analyse SEs using magnetic isolation techniques and quantitative proteomics.
Finally I will be able to validate my results using differentiated MNs derived from human iPSC isolated from ALS patients. These findings will be further tested in patient tissue and will be paramount for the identification of novel pathways and potential therapeutic targets in ALS.
Planned Impact
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder with a 1:400 lifetime risk, for which no effective treatment is available. The aim of this proposal is to generate new knowledge about the mechanisms underlying ALS, by using innovative biological tools and disease models; this data will have impact on researchers and clinician scientists and will be important to enable drug discovery and therapy testing in the future, with therefore a broad impact on patients and carers.
1) Although axons are a crucial compartment of neuronal cells, our knowledge of axonal RNA and signalling molecules, is still very limited. In the first instance, this project will provide novel biological information and data regarding the axonal transcriptome and will therefore have a very broad impact in neuroscience research.
2) This project will provide insights in axonal biology in ALS, and specifically in RNA metabolism and signalling alterations occurring in the disease and therefore have impact on ALS research.
3) Axonal dysfunction has been postulated to be involved in numerous neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease, therefore extending the impact of these findings more widely to the neurodegeneration field.
4) Our findings may benefit biotech/pharma by providing new insights and new targets for the development of therapeutics for ALS, and possibly other RNA disorders.
5) Amyotrophic lateral sclerosis patients will ultimately benefit from the development of drugs that can slow or halt their disease; this would directly contribute to improving the health and well-being of society. The development and commercialisation of a therapy for ALS would also lead to huge economic benefit.
1) Although axons are a crucial compartment of neuronal cells, our knowledge of axonal RNA and signalling molecules, is still very limited. In the first instance, this project will provide novel biological information and data regarding the axonal transcriptome and will therefore have a very broad impact in neuroscience research.
2) This project will provide insights in axonal biology in ALS, and specifically in RNA metabolism and signalling alterations occurring in the disease and therefore have impact on ALS research.
3) Axonal dysfunction has been postulated to be involved in numerous neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease, therefore extending the impact of these findings more widely to the neurodegeneration field.
4) Our findings may benefit biotech/pharma by providing new insights and new targets for the development of therapeutics for ALS, and possibly other RNA disorders.
5) Amyotrophic lateral sclerosis patients will ultimately benefit from the development of drugs that can slow or halt their disease; this would directly contribute to improving the health and well-being of society. The development and commercialisation of a therapy for ALS would also lead to huge economic benefit.
Organisations
- University College London (Fellow, Lead Research Organisation)
- Motor Neurone Disease Association (Co-funder)
- Francis Crick Institute (Collaboration)
- University College London (Collaboration)
- Italian Institute of Technology (Istituto Italiano di Tecnologia IIT) (Collaboration)
- Icahn School of Medicine at Mount Sinai (Collaboration)
- University of Trento (Collaboration)
- Massachusetts Institute of Technology (Collaboration)
- Weizmann Institute of Science (Collaboration)
- MRC Harwell Institute (Collaboration)
People |
ORCID iD |
Pietro Fratta (Principal Investigator / Fellow) |
Publications
Abdelkarim S
(2016)
CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
in Brain : a journal of neurology
Abramzon Y
(2020)
The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
in Frontiers in Neuroscience
Bampton A
(2021)
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing.
in Acta neuropathologica
Bampton A
(2020)
The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis
in Acta Neuropathologica
Belin S
(2019)
Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
in Human molecular genetics
Belin S
(2019)
Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
in Human molecular genetics
Belin S
(2019)
Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
in Human molecular genetics
Bertolin C
(2016)
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
in European journal of neurology
Birsa N
(2021)
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
in Science advances
Birsa N
(2020)
Cytoplasmic functions of TDP-43 and FUS and their role in ALS.
in Seminars in cell & developmental biology
Description | Good practice for C9orf72 gene testing |
Geographic Reach | National |
Policy Influence Type | Membership of a guideline committee |
Description | A gene therapy approach for SBMA |
Amount | £192,000 (GBP) |
Organisation | Neuro Research Charitable Trust |
Sector | Charity/Non Profit |
Country | New Zealand |
Start | 09/2018 |
End | 09/2021 |
Description | Discovery of novel TDP-43 splicing targets: the Achilles' heel for FTD and towards sensitive biomarkers and therapeutic tar |
Amount | $6,500,000 (USD) |
Funding ID | U54NS123743 |
Organisation | Stanford University |
Sector | Academic/University |
Country | United States |
Start | 09/2021 |
End | 09/2026 |
Description | Do the heterogeneous ribonuclear proteins play a role in the pathogenesis of Alzheimer's disease? |
Amount | £250,000 (GBP) |
Organisation | Alzheimer's Society |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 12/2018 |
End | 11/2021 |
Description | Identification of biomarkers for spinal bulbar muscular atrophy |
Amount | £53,000 (GBP) |
Organisation | National Institute for Health Research |
Sector | Public |
Country | United Kingdom |
Start | 05/2018 |
End | 05/2020 |
Description | Investigating neuronal RNA localisation and translational deficits as gain of function mechanisms in ALS |
Amount | £513,524 (GBP) |
Funding ID | MR/R005184/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 09/2017 |
End | 09/2020 |
Description | Investigating skeletal muscle imaging and blood biomarkers as a multimodal approach to sensitively evaluate ALS progression in clinical trials |
Amount | £253,000 (GBP) |
Organisation | National Institute for Health Research |
Department | NIHR Biomedical Research Centre |
Sector | Public |
Country | United Kingdom |
Start | 03/2014 |
End | 03/2016 |
Description | Investigation of early-stage protein translation deficits in ALS using a combined mouse/iPSC approach |
Amount | £209,295 (GBP) |
Funding ID | Fratta/Apr19/868-791 |
Organisation | Motor Neurone Disease Association (MND) |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 06/2020 |
End | 09/2023 |
Description | Loss of UNC13A: how it exacerbates amyotrophic lateral sclerosis, and how to correct it |
Amount | £830,000 (GBP) |
Organisation | University College London |
Sector | Academic/University |
Country | United Kingdom |
Start | 04/2022 |
End | 04/2025 |
Description | Motor Neurone Disease Association - Research Grant |
Amount | £191,000 (GBP) |
Organisation | Motor Neurone Disease Association (MND) |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 02/2017 |
End | 01/2020 |
Description | PhD supplement funding |
Amount | £19,203 (GBP) |
Organisation | Rosetrees Trust |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 11/2016 |
End | 10/2019 |
Description | Project grant |
Amount | £378,214 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 03/2014 |
End | 09/2016 |
Description | Project grant |
Amount | € 160,000 (EUR) |
Organisation | Thierry Latran Foundation |
Sector | Charity/Non Profit |
Country | France |
Start | 04/2014 |
End | 04/2016 |
Description | RNA dysfunction in MND: understanding the changes through novel RNA-seq technologies The Masonic Charitable Foundation PhD Studentship |
Amount | £100,000 (GBP) |
Funding ID | Fratta/Apr19/893-792 |
Organisation | Motor Neurone Disease Association (MND) |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 11/2019 |
End | 11/2023 |
Description | RNA dysfunction in motor neuron disease: identification of novel changes in transcript processing and localisation through long-read RNA-seq |
Amount | £15,000 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 02/2019 |
End | 06/2019 |
Description | The impact of TDP-43 on translation and the response to axonal damage in amyotrophic lateral sclerosis |
Amount | £1,926,269 (GBP) |
Funding ID | MR/S006508/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 09/2019 |
End | 09/2024 |
Description | The role of miRNAs in ALS and their use as a biomarker of disease progression |
Amount | £229,328 (GBP) |
Funding ID | Greensmith/Apr15/839-791 |
Organisation | Motor Neurone Disease Association (MND) |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 01/2016 |
End | 12/2018 |
Title | MN specific transcription and translation detection |
Description | We have crossed the CHAT-Cre mouse line with UPRT and RiboTag transgenic mice in order to generate mice that allow the isolation of MN-specific and axon-specific RNA and RNA coupled to Ribosomes. |
Type Of Material | Technology assay or reagent |
Provided To Others? | No |
Impact | The combination of these two methods will allow to obtain novel insight in MN specific RNA |
Title | Motor axon specific transcriptome analysis |
Description | We have combined microfluidic chambers, Motor neuron culturing and low-input RNA-seq in order to reliably sequence RNA deriving from pure motor axon populations. |
Type Of Material | Technology assay or reagent |
Provided To Others? | No |
Impact | This method allows to study how a very well defined subcompartment of the motor neuron responds to genetic or external stimuli. |
Title | Novel ALS mouse models - TDP-43 |
Description | New allelic series of TDP-43 endogenous mutations. 3 lines: a) Q331K line - endogenous ALS-causative mutation knock-in model b) M323K line - endogenous C-terminal mouse mutation: this mouse develops a progressive neuromuscular phenotype, including MN loss. c) F210I line - this is not a disease mode, but a mammalian in vivo model of TDP-43 loss of RNA binding function |
Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
Year Produced | 2018 |
Provided To Others? | Yes |
Impact | Mouse lines deposited and publicly available |
Title | Novel MRI assessment for ALS and KD patients |
Description | Diagnostic value of muscle MRI for KD and ALS patients |
Type Of Material | Technology assay or reagent |
Year Produced | 2019 |
Provided To Others? | Yes |
Impact | Protocol adopted by biotech setting up clinical trial |
Title | Sod1 D83G mice |
Description | A new mouse line carrying a pathogenic ALS mutation and developing signs of motorneuron degeneration. Different from all previous published lines in that the mutation is in the endogenous mouse gene. |
Type Of Material | Model of mechanisms or symptoms - mammalian in vivo |
Provided To Others? | No |
Impact | This has highlighted the importance of dosage in pathogenesis of animal models, and also underlined the integarted loss and gain of function occurring in SOD1 ALS. |
Title | few cell transcriptomics |
Description | isolation of few cells from mouse tissue followed by RNA extraction, amplification and sequencing |
Type Of Material | Technology assay or reagent |
Provided To Others? | No |
Impact | possibility of obtaining a transcriptome from few mouse tissue cells |
Title | ALS and FTD Brain Transcriptomics |
Description | Major contributors to a large initiative for ALS brain transcriptomics initiative (ALS-NYGC). |
Type Of Material | Database/Collection of data |
Year Produced | 2019 |
Provided To Others? | Yes |
Impact | Access is granted to all members and through an application process. a anumber of papers have originated from this initiative. |
Description | ALS brain transcriptome analysis |
Organisation | Icahn School of Medicine at Mount Sinai |
Country | United States |
Sector | Academic/University |
PI Contribution | We have collaboratively performed parallel focussed analyses on different aspects of transcription alterations on a very large dataset of ALS and FTD brains. |
Collaborator Contribution | We have collaboratively performed parallel focussed analyses on different aspects of transcription alterations on a very large dataset of ALS and FTD brains. |
Impact | Prudencio et al. JCI manuscript. this collaboration has provided the basis for numerous grant applications currently pending. |
Start Year | 2017 |
Description | Axonal transport in vivo |
Organisation | University College London |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | generation and study of ALS mouse models |
Collaborator Contribution | Expertise in assessing axonal transport in vivo in mice |
Impact | NA |
Start Year | 2018 |
Description | Bioinformatics analysis |
Organisation | University College London |
Department | Genetics Institute |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | We provided data generation, data analysis and wet-lab validation of data. |
Collaborator Contribution | Bioinformatic analysis and processing of sequencing data |
Impact | This collaboration has resulted in significant progress of our understanding and capacity to interpret complex sequencing data. This has resulted in 2 publications (acceptes, but not yet in press) |
Start Year | 2012 |
Description | Generation of novel mouse models |
Organisation | MRC Harwell |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Studied molecular features and RNA profile of novel lines |
Collaborator Contribution | Generated novel mouse mutants for the study of ALS related genes Fus, Tardbp and Sod1 |
Impact | This collaboration has led to numerous findings - manuscripts are in preparation. |
Start Year | 2011 |
Description | PiggyBac iPSC motor neurons |
Organisation | Italian Institute of Technology (Istituto Italiano di Tecnologia IIT) |
Department | Neuroscience and Brain Technologies IIT |
Country | Italy |
Sector | Academic/University |
PI Contribution | NA |
Collaborator Contribution | Contributed expertise and isogenic cell lines to study FUS mutations in high-quality and high-purity motor neurons |
Impact | NA |
Start Year | 2019 |
Description | Polysome profiling |
Organisation | University of Trento |
Country | Italy |
Sector | Academic/University |
PI Contribution | In order to investigate the the role of FUS in influencing translation in ALS, we have started a collaboration with Gabriella Viero, a t the University of Trento, who is a leading ribosomal biology expert. We have provided our capacity to isolate specific tissue and subcellular compartments from our unique ALS model and are working together on uderstanding the role of mutant protein FUS on protein translation. |
Collaborator Contribution | See above. |
Impact | We have submitted an MRC research grant application with Gabriella VIero as collaborator using initial data from our work. |
Start Year | 2017 |
Description | RNA sequencing |
Organisation | Massachusetts Institute of Technology |
Country | United States |
Sector | Academic/University |
PI Contribution | Collection, isolation and processing of different Central Nervous System samples originating from our novel mutant mouse lines. |
Collaborator Contribution | Sequencing and initial analysis of the RNA sequencing data. |
Impact | Outputs have been full datasets obtained on our mutant mouse lines. |
Start Year | 2011 |
Description | iCLIP |
Organisation | Francis Crick Institute |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | We have been able to apply this technique to our unique mouse mutants |
Collaborator Contribution | Technical and scientific input and support |
Impact | Ongoing publication |
Start Year | 2016 |
Description | miRNA collaboration |
Organisation | Weizmann Institute of Science |
Country | Israel |
Sector | Academic/University |
PI Contribution | We are working with Eran Hornstein, from the Weizmann Institute in to investigate the changes in miRNAs occurring in ALS and their potential use as biomarkers. We are using our mouse model resources and our patient sample collections and Eran Hornstein is assisting in the high throughput sequencing of miRNAs. |
Collaborator Contribution | As above |
Impact | NA |
Start Year | 2016 |
Description | 1st UK Kennedy's Disease Day |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | A day to update patients, carers and healthcare professionals to all clinical and research aspects of this rare disease. |
Year(s) Of Engagement Activity | 2017 |
Description | 2nd UK Kennedy's disease day |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Day of information and scientific communication for patients, carers, gene carriers and healthcare professionals. International speakers and participation. Forum for UK and US patient groups and charities to meet. I organised and obtained funding for the event, due to take place on April 24 2020 |
Year(s) Of Engagement Activity | 2020 |
Description | Curation of quarterly research and clinical update letter for KD patients, families and carers |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Update on latest research and clinical developments |
Year(s) Of Engagement Activity | 2018,2019 |
Description | Italian 2019 KD Day |
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 | Participated to a National event for KD patients and carers |
Year(s) Of Engagement Activity | 2019 |
Description | MND open day - National Hospital of Neurology and Neurosurgery |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Type Of Presentation | Poster Presentation |
Geographic Reach | Regional |
Primary Audience | Participants in your research and patient groups |
Results and Impact | 50 patients and carers took part in the Open Day. Understanding of our reasearch activities and requests to actively participate in research |
Year(s) Of Engagement Activity | 2012 |
Description | MNDA spring conference research update |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | Yes |
Geographic Reach | Regional |
Primary Audience | Participants in your research and patient groups |
Results and Impact | Very long and constructive question session Number of patients were interested in participating in research |
Year(s) Of Engagement Activity | 2014 |
Description | Regular commenting on MNDA and KD Disease association blogs and newsletters |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Explained findings and research plans to patient audiences. |
Year(s) Of Engagement Activity | 2013,2014,2015,2016 |