The impact of TDP-43 on translation and the response to axonal damage 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 that causes progressive loss of MNs, leading to impaired 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.
Motor neurons (MNs) are the nerve cells that send signals from the spinal cord to our muscles. They are amongst the largest cells in the body, with their cell soma located in the spinal cord and its fiber (called 'axon') projecting outside to the muscles. All cell compartments, including axons, need a constant supply of newly synthesised proteins in order to function properly. On some occasions, for example when responding to an unpredicted event as cell damage, new and different proteins are absolutely needed to re-establish cell functionality and long term survival. This is particularly challenging for axons, as the RNA for these proteins, which is essential to make them, may need to be synthesized very far away in the nucleus.
Multiple lines of evidence indicate that one of the crucial players in the disease mechanism of ALS is a protein called TDP-43, which is important for the specific transport of RNA to different locations in the axons and in the response of cells to stress and damage.
In this Fellowship, I will test how TDP-43 impacts on the response of MNs to damage in the axons, and the relevance of this response pathway in ALS. To do so, I will combine novel mouse models of disease and patient cell lines with state-of-the-art biological tools that will allow the investigation of these very specific functions.
In particular, we have developed novel strains of mice that carry specific mutations in the mouse TDP-43 gene and, as a result, develop crucial features of ALS. These mouse models of ALS will allow us, by looking over time at pre-symptomatic mice and at mice with overt ALS symptoms, to identify the molecular and cellular changes occurring during disease progression. Using an innovative and fully integrated approach, we will analyse the disease phenotype of these mice with new molecular biology and microscopic techniques to identify which types of RNAs and proteins are present in different MN regions, including the axon, and how these change in response to damage.
I will therefore be able to investigate the cellular alterations triggered by TDP-43 in axonal damage response by studying: 1. MNs grown in special culture dishes where the axons are separated from the cell bodies; 2. The axons and their damage response in wild type and mutant mice; and 3. By validating our results in MNs derived from patient-induced stem cells and using post mortem brain samples donated to research by ALS patients.
In summary, this project will contribute to understand how changes in TDP-43 impacts on MN survival. This long-awaited information is essential to develop effective therapeutics for motor neuron disorders.
Motor neurons (MNs) are the nerve cells that send signals from the spinal cord to our muscles. They are amongst the largest cells in the body, with their cell soma located in the spinal cord and its fiber (called 'axon') projecting outside to the muscles. All cell compartments, including axons, need a constant supply of newly synthesised proteins in order to function properly. On some occasions, for example when responding to an unpredicted event as cell damage, new and different proteins are absolutely needed to re-establish cell functionality and long term survival. This is particularly challenging for axons, as the RNA for these proteins, which is essential to make them, may need to be synthesized very far away in the nucleus.
Multiple lines of evidence indicate that one of the crucial players in the disease mechanism of ALS is a protein called TDP-43, which is important for the specific transport of RNA to different locations in the axons and in the response of cells to stress and damage.
In this Fellowship, I will test how TDP-43 impacts on the response of MNs to damage in the axons, and the relevance of this response pathway in ALS. To do so, I will combine novel mouse models of disease and patient cell lines with state-of-the-art biological tools that will allow the investigation of these very specific functions.
In particular, we have developed novel strains of mice that carry specific mutations in the mouse TDP-43 gene and, as a result, develop crucial features of ALS. These mouse models of ALS will allow us, by looking over time at pre-symptomatic mice and at mice with overt ALS symptoms, to identify the molecular and cellular changes occurring during disease progression. Using an innovative and fully integrated approach, we will analyse the disease phenotype of these mice with new molecular biology and microscopic techniques to identify which types of RNAs and proteins are present in different MN regions, including the axon, and how these change in response to damage.
I will therefore be able to investigate the cellular alterations triggered by TDP-43 in axonal damage response by studying: 1. MNs grown in special culture dishes where the axons are separated from the cell bodies; 2. The axons and their damage response in wild type and mutant mice; and 3. By validating our results in MNs derived from patient-induced stem cells and using post mortem brain samples donated to research by ALS patients.
In summary, this project will contribute to understand how changes in TDP-43 impacts on MN survival. This long-awaited information is essential to develop effective therapeutics for motor neuron disorders.
Technical Summary
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder, which causes loss of motor neurons (MNs) leading to paralysis and ultimately death.
The RNA-binding protein TDP-43 is a central player in ALS pathogenesis, but how its mutations and malfunction lead to disease is unknown. Published work and our preliminary data show: 1) TDP-43 is involved in RNA splicing, transport and translation; 2) axonal RNA localisation and translation is crucial for neuronal response to injury; and 3) cellular responses to stress and axonal damage are impaired in ALS.
These observations converge to define my research question - I will investigate how mutations in TDP-43 impact on a MN process crucial for ALS: their response to damage.
In order to do so, I will use our novel mouse model which bears a single point mutation in endogenous TDP-43 gene and develops progressive MN loss, allowing us to investigate the consequences of mutations within a physiological in vivo setting.
I will combine novel experimental setups and more established approaches to address specific points:
a) What is the impact of mutant TDP-43 on axonal translation?
b) How does mutant TDP-43 alter the neuronal response to oxidative stress, and specifically to axonal stress?
c) Does mutant TDP-43 alter response to axonal damage in vivo?
d) Does the reversal of these changes impact on TDP-43 toxicity?
I will use novel mouse tools and refined culture and biochemical approaches to identify MN-specific and axonal translation changes both in vivo and in vitro. I will then use a novel set-up we have devised to study the MN response to axonal stress in vitro, and perform axotomies combined with laser capture microscopy to characterise the impact of TDP-43 on axonal injury in vivo.
Finally, I will use iPSC-derived MNs and post mortem material from patients to validate our findings, as this is paramount for the identification of novel pathways and potential therapeutic targets in ALS.
The RNA-binding protein TDP-43 is a central player in ALS pathogenesis, but how its mutations and malfunction lead to disease is unknown. Published work and our preliminary data show: 1) TDP-43 is involved in RNA splicing, transport and translation; 2) axonal RNA localisation and translation is crucial for neuronal response to injury; and 3) cellular responses to stress and axonal damage are impaired in ALS.
These observations converge to define my research question - I will investigate how mutations in TDP-43 impact on a MN process crucial for ALS: their response to damage.
In order to do so, I will use our novel mouse model which bears a single point mutation in endogenous TDP-43 gene and develops progressive MN loss, allowing us to investigate the consequences of mutations within a physiological in vivo setting.
I will combine novel experimental setups and more established approaches to address specific points:
a) What is the impact of mutant TDP-43 on axonal translation?
b) How does mutant TDP-43 alter the neuronal response to oxidative stress, and specifically to axonal stress?
c) Does mutant TDP-43 alter response to axonal damage in vivo?
d) Does the reversal of these changes impact on TDP-43 toxicity?
I will use novel mouse tools and refined culture and biochemical approaches to identify MN-specific and axonal translation changes both in vivo and in vitro. I will then use a novel set-up we have devised to study the MN response to axonal stress in vitro, and perform axotomies combined with laser capture microscopy to characterise the impact of TDP-43 on axonal injury in vivo.
Finally, I will use iPSC-derived MNs and post mortem material from patients to validate our findings, as this is 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 pathomechanisms underlying ALS, by using innovative biological tools and disease models; this data will have impact on researchers and clinician scientists operating in the ALS field and more in general in the study of neurodegenerative diseases, and will be important to enable drug discovery and therapy testing, resulting in a broad impact on patients and carers.
As outlined below, this work will have a significant impact on: 1) the neuroscience community; 2) ALS researchers; 3) neurodegeneration research; 4) biotech and pharma; and 5) the patients.
1) It has recently emerged that the local protein synthesis is crucial for axons and their response to damage. Our knowledge of axonal translation and axonal injury response is still very limited. In the first instance, this project will therefore provide novel biological information regarding axonal translation and neuronal response to axonal injury, and will therefore have a very broad impact in neuroscience research.
2) This project will provide insights in how disease-causing mutations impact on motor neuron viability and the capacity of motor neurons to respond to axonal damage. These areas of research are of high relevance to the understanding of ALS pathogenesis and therefore will have a significant impact on ALS research.
3) Axonal injury has been postulated to be involved in numerous neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease, therefore extending the relevance of these findings to the entire neurodegeneration field.
4) Our findings will be centred on a specific neuronal response and its alteration in pathological conditions. We will also test whether specific targets will modify the TDP-43 toxicity. Henceforth, the results generated during this fellowship will provide new insights for setting up new assays and identify new targets for the development of ALS therapeutics by pharma and biotech.
5) ALS 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 an effective therapy for ALS would also lead to huge economic benefit.
As outlined below, this work will have a significant impact on: 1) the neuroscience community; 2) ALS researchers; 3) neurodegeneration research; 4) biotech and pharma; and 5) the patients.
1) It has recently emerged that the local protein synthesis is crucial for axons and their response to damage. Our knowledge of axonal translation and axonal injury response is still very limited. In the first instance, this project will therefore provide novel biological information regarding axonal translation and neuronal response to axonal injury, and will therefore have a very broad impact in neuroscience research.
2) This project will provide insights in how disease-causing mutations impact on motor neuron viability and the capacity of motor neurons to respond to axonal damage. These areas of research are of high relevance to the understanding of ALS pathogenesis and therefore will have a significant impact on ALS research.
3) Axonal injury has been postulated to be involved in numerous neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease, therefore extending the relevance of these findings to the entire neurodegeneration field.
4) Our findings will be centred on a specific neuronal response and its alteration in pathological conditions. We will also test whether specific targets will modify the TDP-43 toxicity. Henceforth, the results generated during this fellowship will provide new insights for setting up new assays and identify new targets for the development of ALS therapeutics by pharma and biotech.
5) ALS 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 an effective 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)
- University of Trento (Collaboration)
- Massachusetts Institute of Technology (Collaboration)
- Mayo Clinic (Collaboration)
- Icahn School of Medicine at Mount Sinai (Collaboration)
- University of Toronto (Collaboration)
- National Institutes of Health (NIH) (Collaboration)
- Weizmann Institute of Science (Collaboration)
- KING'S COLLEGE LONDON (Collaboration)
People |
ORCID iD |
Pietro Fratta (Principal Investigator / Fellow) |
Publications
Cortese A
(2019)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
in Nature 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
Fratta P
(2019)
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
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
Lombardi V
(2019)
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.
in Neurology
Cortese A
(2019)
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
in Nature 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
Nair RR
(2019)
Uses for humanised mouse models in precision medicine for neurodegenerative disease.
in Mammalian genome : official journal of the International Mammalian Genome Society
Moens T
(2019)
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A
in Acta Neuropathologica
Klickovic U
(2019)
Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity.
in Neurology
Description | Good practice for C9orf72 gene testing |
Geographic Reach | National |
Policy Influence Type | Membership of a guideline committee |
Description | A gene therapy approach for Kennedy's disease |
Amount | £100,000 (GBP) |
Organisation | University College London |
Sector | Academic/University |
Country | United Kingdom |
Start | 03/2021 |
End | 02/2023 |
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 | 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 | 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 |
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 | FUS and FMRP LLPS |
Organisation | University of Toronto |
Country | Canada |
Sector | Academic/University |
PI Contribution | We are working collaboratively on the interaction between FMRP and FUS, with work in neurons on our side and work in vitro in U Toronto. |
Collaborator Contribution | We are working collaboratively on the interaction between FMRP and FUS, with work in neurons on our side and work in vitro in U Toronto. |
Impact | Important findings currently under revision - therefore not in this year's publication output |
Start Year | 2019 |
Description | Neurophysiology |
Organisation | University College London |
Department | School of Pharmacy |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Collaborated to develop systems to measure UNC13A deficits in human derived cell models. We generated cells for this project. |
Collaborator Contribution | COntiributed neurophysiology expertise |
Impact | NA |
Start Year | 2020 |
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 | Synaptic release investigation partnership |
Organisation | King's College London |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Generated cellular tools to address the impact of UNC13A loss on synaptic release |
Collaborator Contribution | Provided unique set-up and expertise for specific synaptic release assays. |
Impact | NA |
Start Year | 2021 |
Description | TDP-43 biology and biomarkers |
Organisation | National Institutes of Health (NIH) |
Country | United States |
Sector | Public |
PI Contribution | Combined novel neuronal cell culture approaches (NIH) with our analyses pipelines (UCL) to identify novel TDP-43 targets |
Collaborator Contribution | Combined novel neuronal cell culture approaches (NIH) with our analyses pipelines (UCL) to identify novel TDP-43 targets |
Impact | Two grant applications One manuscript in JCI, 2020. |
Start Year | 2020 |
Description | TDP-43 biommarkers |
Organisation | Mayo Clinic |
Country | United States |
Sector | Charity/Non Profit |
PI Contribution | Analysed multiple brain ALS transcriptomes to identify novel biomarkers |
Collaborator Contribution | Carried out validation investigations in another cohort and proteomic work. |
Impact | Application to two major grant initiatives One paper JCI, 2020 |
Start Year | 2019 |
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 | iPSC derived cortical and lower MNs to study TDP-43 loss |
Organisation | National Institutes of Health (NIH) |
Country | United States |
Sector | Public |
PI Contribution | Combined expertise in RNA biology and iPSC expertise to identify novel ALS pathways |
Collaborator Contribution | Appliation of novel RNA tagging experiments and analyses pipelines. |
Impact | Identification of the link between TDP-43 and UNC13A |
Start Year | 2020 |
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 | 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 | International KD patient and research meeting |
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 | two day meeting with science and medical talks, and discussion groups. All focussed on Kennedy's disease |
Year(s) Of Engagement Activity | 2023 |
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 | Organiser of 2020 KD Day |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Day of research and clinical update for this rare disease to patients. |
Year(s) Of Engagement Activity | 2020 |
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 |