Regulation of axonal transport by neurotrophic factors in health and disease
Lead Research Organisation:
University College London
Department Name: Institute of Neurology
Abstract
Charcot-Marie-Tooth disease (CMT) is a debilitating, inherited neuromuscular condition that is characterised by muscle weakness and sensation deficiencies mainly in the hands and feet. The mechanisms linking gene alterations (mutations) to this neurodegeneration remain unresolved, and there are currently no effective treatments for the disease. To better understand CMT and develop therapies, I study the 2D subtype (CMT2D) caused by mutations in the gene GARS, which produces glycyl-tRNA synthetase (GlyRS) protein. GlyRS is found in almost all cells of the body, yet it is the nerves responsible for movement (motor neurons) and sensation (sensory neurons) that are affected by the disease. By understanding exactly why these peripheral nerves deteriorate, we will be better able to engineer targeted, molecular therapies.
It has previously been shown that CMT2D-linked mutations in GARS affect the structure of the resulting GlyRS protein. I recently discovered that this conformational change causes mutant GlyRS to aberrantly interact with specific proteins called tropomyosin receptor kinase (Trk) receptors found on the surface of nerve cells. Trk receptors are crucial to life because they bind to survival molecules called neurotrophins, hence they are also known as neurotrophin receptors. I have shown that mutant GlyRS binding to Trk proteins disturbs the usual nerve response to neurotrophins, impairing sensory nervous system development in CMT2D mice. In addition, this non-physiological interaction leads to defects in a process called axonal transport, which is also essential for nerve cell function and survival. I have successfully treated these defects in CMT2D mice by injecting purified neurotrophic factors to overcome the detrimental impact of mutant GlyRS binding. This work has not only identified a possible way to treat CMT2D, but it has uncovered a previously unappreciated role for neurotrophic factors in regulating the dynamics of axonal transport.
I now propose to unravel the molecular mechanism responsible for the modulation performed by neurotrophic factors on axonal transport in healthy nerves and, in the process, determine exactly how mutant GlyRS binding to Trk receptors reduces nerve survival in CMT2D.
I will begin by testing the effects of a variety of neurotrophic factors on axonal transport in healthy and CMT2D mice in order to identify the signalling nodes most relevant to this essential cellular process. Complementing this, I will assess where the neurotrophic factor receptors are found in the muscle, and determine whether receptor localisation and levels are linked with the susceptibility of different muscles to weakness and degeneration in CMT2D mice. I will then grow nerve cells in tissue culture and use them to determine exactly how impairments in neurotrophic factor-regulated pathways disrupt axonal transport. Finally, I will design gene therapies, which will be delivered by harmless viruses, to boost levels of specific neurotrophic factors in CMT2D mice muscles and test this strategy as a potential therapy for the disease.
This proposal will not only enhance our understanding of how neurotrophic factors regulate axonal transport in healthy nerves, but it has the very real potential of generating innovative gene therapies for CMT.
It has previously been shown that CMT2D-linked mutations in GARS affect the structure of the resulting GlyRS protein. I recently discovered that this conformational change causes mutant GlyRS to aberrantly interact with specific proteins called tropomyosin receptor kinase (Trk) receptors found on the surface of nerve cells. Trk receptors are crucial to life because they bind to survival molecules called neurotrophins, hence they are also known as neurotrophin receptors. I have shown that mutant GlyRS binding to Trk proteins disturbs the usual nerve response to neurotrophins, impairing sensory nervous system development in CMT2D mice. In addition, this non-physiological interaction leads to defects in a process called axonal transport, which is also essential for nerve cell function and survival. I have successfully treated these defects in CMT2D mice by injecting purified neurotrophic factors to overcome the detrimental impact of mutant GlyRS binding. This work has not only identified a possible way to treat CMT2D, but it has uncovered a previously unappreciated role for neurotrophic factors in regulating the dynamics of axonal transport.
I now propose to unravel the molecular mechanism responsible for the modulation performed by neurotrophic factors on axonal transport in healthy nerves and, in the process, determine exactly how mutant GlyRS binding to Trk receptors reduces nerve survival in CMT2D.
I will begin by testing the effects of a variety of neurotrophic factors on axonal transport in healthy and CMT2D mice in order to identify the signalling nodes most relevant to this essential cellular process. Complementing this, I will assess where the neurotrophic factor receptors are found in the muscle, and determine whether receptor localisation and levels are linked with the susceptibility of different muscles to weakness and degeneration in CMT2D mice. I will then grow nerve cells in tissue culture and use them to determine exactly how impairments in neurotrophic factor-regulated pathways disrupt axonal transport. Finally, I will design gene therapies, which will be delivered by harmless viruses, to boost levels of specific neurotrophic factors in CMT2D mice muscles and test this strategy as a potential therapy for the disease.
This proposal will not only enhance our understanding of how neurotrophic factors regulate axonal transport in healthy nerves, but it has the very real potential of generating innovative gene therapies for CMT.
Technical Summary
Charcot-Marie-Tooth disease type 2D (CMT2D) is a debilitating and presently incurable peripheral nerve disorder caused by dominantly-inherited, gain-of-function mutations in the housekeeping gene GARS, which encodes glycyl-tRNA synthetase (GlyRS). The mechanisms linking motor and sensory degeneration to GlyRS dysfunction remain unresolved; however, I identified that pathological mutations in GARS permit the mutant protein to aberrantly bind to the extracellular domains of mainly neuron-specific neurotrophin receptors. The activity of these important receptors is integral to the survival, development, and differentiation of motor and sensory neurons in all mammalian organisms. Perturbations in neurotrophin signalling account for pervasive in vivo defects in CMT2D axonal transport of signalling endosomes, which are reversed by administration of specific neurotrophic factors (NTFs). I have thus uncovered an unappreciated role for NTFs in regulating the dynamics of this essential neuronal process, and discovered a neuropathic pathway amenable to therapeutic intervention. I now propose to interrogate NTFs integral to transport in vivo in healthy and diseased peripheral axons. Detailed expression experiments of NTFs and their receptors will identify molecular determinants of differential CMT2D muscle vulnerability. These experiments will be coupled with mechanistic studies in primary peripheral neurons in vitro to elucidate how NTFs control transport and how mutant GlyRS disturbs this process. Virus-mediated gene therapies will be designed and tested in CMT2D mice to determine whether augmenting neurotrophic input in a muscle-specific fashion alleviates, in part or completely, neuropathic phenotypes. This combined approach provides a powerful, integrated platform to unravel the non-cell autonomous mechanisms governing axonal transport, with real possibility of producing a viable gene therapy for a currently untreatable neurological condition.
Planned Impact
The major impact goals of this research are to:
1. Provide evidence for the therapeutic efficacy of boosting neurotrophic support in CMT using virus-mediated gene therapy, with the long-term objective of improving the health and well-being of CMT patients.
2. Empower CMT patient charities, and thus patients and their families, with clear and concise research summaries.
3. Increase awareness of in vivo imaging of axonal transport as a research tool in neuroscience, and provide opportunities for enhancing capacity, knowledge, and skills of interested academic and private sector researchers.
4. Encourage public awareness and understanding of neuroscience, neurodegenerative disease, and gene therapy, and related issues.
With these impact goals in mind, the following stakeholders have been identified as likely beneficiaries of my research program:
1. CMT patients
2. CMT charities
3. Private sector organisations
4. Interested public
CMT2D is a debilitating neurological condition that causes muscle weakness and sensory deficits leading to difficulty walking, foot deformities, and reduced dexterity. Patient quality of life is therefore severely reduced, and there is currently no available cure or treatment to limit this. The experiments outlined in this proposal are highly likely to identify an effective gene therapy for CMT2D, and other CMTs given that underlying mechanisms may be shared between subtypes. Patients will thus benefit clinically in the medium to long term from the development of a gene therapy that targets the molecular mechanisms linking disease mutations to neuropathology.
I will interact with CMT patient charities about my research so that they will be better able to inform CMT patients and their families about the latest CMT discoveries. I know from my long-standing interaction with the charity Spinal Muscular Atrophy Support UK that well-informed patients and families feel that they are better supported, and are generally happier and less worried by their condition. Additionally, publicity surrounding CMT will likely increase awareness and support for research, especially with a plausible disease therapy on the horizon.
The ability to image and assess the dynamics of axonal transport in an in vivo model is highly coveted by academic and private company researchers. This is evidenced by my frequent discussions at conferences, and me having been contacted by pharmaceutical company Merck (USA) and numerous international academic teams to consult on the technique and help to validate their conclusions in an in vivo setting. By facilitating the adoption of this technique in industry science, I can have a significant impact on the quality and reliability of experiments assessing axonal transport in a range of neurological disease and aging models.
Finally, and more generally, by actively engaging with the public using a variety of platforms (outlined in Pathways to Impact annex), I will continue to have a meaningful impact on society's understanding and enjoyment of science. Discussing science and my work with non-academics not only improves my communication skills and overall understanding of neuroscience, but it can help to create a more conscientious and knowledgeable population that will facilitate informed political, environmental, and health-related decision making, as well as inspiring more young people to pursue careers in STEM.
1. Provide evidence for the therapeutic efficacy of boosting neurotrophic support in CMT using virus-mediated gene therapy, with the long-term objective of improving the health and well-being of CMT patients.
2. Empower CMT patient charities, and thus patients and their families, with clear and concise research summaries.
3. Increase awareness of in vivo imaging of axonal transport as a research tool in neuroscience, and provide opportunities for enhancing capacity, knowledge, and skills of interested academic and private sector researchers.
4. Encourage public awareness and understanding of neuroscience, neurodegenerative disease, and gene therapy, and related issues.
With these impact goals in mind, the following stakeholders have been identified as likely beneficiaries of my research program:
1. CMT patients
2. CMT charities
3. Private sector organisations
4. Interested public
CMT2D is a debilitating neurological condition that causes muscle weakness and sensory deficits leading to difficulty walking, foot deformities, and reduced dexterity. Patient quality of life is therefore severely reduced, and there is currently no available cure or treatment to limit this. The experiments outlined in this proposal are highly likely to identify an effective gene therapy for CMT2D, and other CMTs given that underlying mechanisms may be shared between subtypes. Patients will thus benefit clinically in the medium to long term from the development of a gene therapy that targets the molecular mechanisms linking disease mutations to neuropathology.
I will interact with CMT patient charities about my research so that they will be better able to inform CMT patients and their families about the latest CMT discoveries. I know from my long-standing interaction with the charity Spinal Muscular Atrophy Support UK that well-informed patients and families feel that they are better supported, and are generally happier and less worried by their condition. Additionally, publicity surrounding CMT will likely increase awareness and support for research, especially with a plausible disease therapy on the horizon.
The ability to image and assess the dynamics of axonal transport in an in vivo model is highly coveted by academic and private company researchers. This is evidenced by my frequent discussions at conferences, and me having been contacted by pharmaceutical company Merck (USA) and numerous international academic teams to consult on the technique and help to validate their conclusions in an in vivo setting. By facilitating the adoption of this technique in industry science, I can have a significant impact on the quality and reliability of experiments assessing axonal transport in a range of neurological disease and aging models.
Finally, and more generally, by actively engaging with the public using a variety of platforms (outlined in Pathways to Impact annex), I will continue to have a meaningful impact on society's understanding and enjoyment of science. Discussing science and my work with non-academics not only improves my communication skills and overall understanding of neuroscience, but it can help to create a more conscientious and knowledgeable population that will facilitate informed political, environmental, and health-related decision making, as well as inspiring more young people to pursue careers in STEM.
Organisations
- University College London (Fellow, Lead Research Organisation)
- Jackson Laboratory (Collaboration)
- University College London (Collaboration)
- Sorbonne University (Collaboration)
- San Raffaele Hospital (Collaboration)
- Scripps Research Institute (Collaboration)
- University of Padova (Collaboration)
- University of Leuven (Collaboration)
- KING'S COLLEGE LONDON (Collaboration)
- University of Illinois at Chicago (Collaboration)
Publications
Lang Q
(2023)
In vivo imaging of axonal transport in peripheral nerves of rodent forelimbs
in Neuronal Signaling
Mech AM
(2020)
Morphological variability is greater at developing than mature mouse neuromuscular junctions.
in Journal of anatomy
Mejia Maza A
(2021)
NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease.
in Scientific reports
Negro S
(2022)
Hydrogen peroxide induced by nerve injury promotes axon regeneration via connective tissue growth factor
in Acta Neuropathologica Communications
Pocratsky AM
(2023)
Intraperitoneal Injection of Neonatal Mice.
in Bio-protocol
Description | Targeting muscle to restore axonal transport as a therapeutic strategy in Charcot-Marie-Tooth disease (CMT) |
Amount | £113,155 (GBP) |
Funding ID | 179340/554340 |
Organisation | University College London |
Sector | Academic/University |
Country | United Kingdom |
Start | 02/2022 |
End | 01/2024 |
Description | Alessio Vagnoni (Kings College London) |
Organisation | King's College London |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Dr. Vagnoni is working on the mechanisms underlying axonal transport, as well as the molecular basis of aging. In collaboration, we have been performing in vivo assessments of mitochondrial axonal transport in young and aged mice. I maintained the mouse colony, genotyped animals and performed the in vivo axonal transport assessments. |
Collaborator Contribution | Dr. Vagnoni is leading this project and requested collaborative input and experiments. |
Impact | Not yet applicable |
Start Year | 2018 |
Description | Andrea Cortese (University College London) |
Organisation | University College London |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Dr. Cortese and I are collaborating on a project working on SORD neuropathy, which is the most common recessive inherited peripheral neuropathy. We have a mouse model of the neuropathy that has a patient mutation in endogenous mouse Sord (c.757delG). My team have been characterising the mutant mouse (assessment of protein knockout, longitudinal phenotyping). |
Collaborator Contribution | Dr. Cortese is a neurologist, who sees neuropathy patients; he is providing his clinical expertise to guide the work. Moreover, he created and provided the c.757delG Sord mouse. |
Impact | Not yet applicable |
Start Year | 2022 |
Description | Ernesto Bongarzone (University of Illinois Chicago) |
Organisation | University of Illinois at Chicago |
Country | United States |
Sector | Academic/University |
PI Contribution | My team have been assessing the impact of psychosine on in vivo axonal transport of mitochondria and signalling endosomes. |
Collaborator Contribution | The collaborators provided the psychosine to test. |
Impact | Not yet applicable. |
Start Year | 2023 |
Description | Gerardo Morfini (University of Illinois Chicago) |
Organisation | University of Illinois at Chicago |
Country | United States |
Sector | Academic/University |
PI Contribution | We are assessing the impact of PKD1 inhibition on endosome axonal transport in vivo. |
Collaborator Contribution | Collaborators provided advice and suggestions. |
Impact | Not yet applicable. |
Start Year | 2023 |
Description | Henry Holden (University College London) |
Organisation | University College London |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | My team has been assessing the neuromuscular junctions in Nfasc1 and Nars1 mouse models of neurological disorders. |
Collaborator Contribution | They identified the genes in the clinic. |
Impact | Not yet applicable. |
Start Year | 2023 |
Description | Ludo van den Bosch (VIB-KU Leuven Center for Brain & Disease Research) |
Organisation | University of Leuven |
Country | Belgium |
Sector | Academic/University |
PI Contribution | Prof. van den Bosch and I collaborate on a project entitled, "Single-cell RNA-Seq highlights transcriptomic signatures associated to the beneficial effect of PHD1 deletion in SOD1-ALS." Mice were shipped to University College London and I performed assessments of in vivo axonal transport in their ALS model mice. I also hosted PhD student Tijs van Doorne in my team to learn the in vivo imaging technique. |
Collaborator Contribution | Prof. van den Bosch funded and devised the work. |
Impact | Not yet applicable. |
Start Year | 2019 |
Description | Maurizio D'Antonio (San Raffaele Scientific Institute) |
Organisation | San Raffaele Hospital |
Department | San Raffaele Scientific Institute (SRSI) |
Country | Italy |
Sector | Academic/University |
PI Contribution | My team are assessing in vivo axonal transport in a new mouse model for CMT2J/I |
Collaborator Contribution | The collaborators created the mouse and are assessing its neuromuscular phenotype. |
Impact | Not yet applicable. |
Start Year | 2023 |
Description | Michaela Rigoni (University of Padova) |
Organisation | University of Padova |
Country | Italy |
Sector | Academic/University |
PI Contribution | Samuele Negro from the laboratory of Michaela Rigoni visited my group and that of my mentor Giampietro Schiavo at University College London. We collaborated on a project to assess the role of hydrogen peroxide in the axonal response to injury. I performed in vivo experiments and live imaging on this project. |
Collaborator Contribution | The project was devised and funded by Michaela Rigoni. |
Impact | Negro S, Lauria F, Stazi M, Tebaldi T, D'Este G, Pirazzini P, Megighian A, Lessi F, Mazzanti CM, Sales G, Romualdi C, Fillo S, Lista F, Sleigh JN, Tosolini AP, Schiavo G, Viero G, Rigoni M# (2022) Hydrogen peroxide induced by nerve injury promotes axon regeneration via connective tissue growth factor. Acta Neuropathol Commun 10:189. doi: 10.1186/s40478-022-01495-5. |
Start Year | 2019 |
Description | Pietro Fratta (University College London) |
Organisation | University College London |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | My team have aided in AAV development and testing. |
Collaborator Contribution | They have created an AAV to test in a SBMA mouse model. |
Impact | Not yet applicable |
Start Year | 2022 |
Description | Robert Burgess (Jackson Laboratory) |
Organisation | The Jackson Laboratory |
Country | United States |
Sector | Charity/Non Profit |
PI Contribution | Dr. Burgess and I are in a long-standing collaboration, stemming from my visiting his laboratory in 2012 as a PhD student. We have published several papers together in the past, and we are currently collaborating on a couple of different ventures. I set up the current collaboration and am conducting the research. |
Collaborator Contribution | Dr. Burgess is an official collaborator on my Career Development Award and is providing tissues and mouse models for my research project. |
Impact | Pending |
Start Year | 2018 |
Description | Stéphane Nédélec (Institut du Fer à Moulin, Inserm, Sorbonne Université) |
Organisation | Sorbonne University |
Country | France |
Sector | Academic/University |
PI Contribution | Dr. Nédélec contacted my laboratory for our expertise on axonal transport. Two members of my team provided expertise on in vitro transport assessments and we also provided reagents. Moreover, my two postdoctoral scientists visited the Nédélec laboratory in Paris to perform transport experiments. |
Collaborator Contribution | Dr. Nédélec works with human iPSC-derived motor neurons from patients with autosomal dominant lower extremity-predominant spinal muscular atrophy-2. He devised the project and has been phenotyping the motor neurons. |
Impact | Not yet applicable |
Start Year | 2022 |
Description | Xiang-Lei Yang (Scripps Research Institute) |
Organisation | Scripps Research Institute |
Country | United States |
Sector | Charity/Non Profit |
PI Contribution | Prof. Yang and I are in a long-standing collaboration, stemming from my first contacting her in 2016 to collaborate on a manuscript (published in 2017 in the Proceedings of the National Academy of Science). We have published two papers together, and we are currently collaborating on several different ventures. I set up the current collaboration and am conducting the research. |
Collaborator Contribution | Prof. Yang is an official collaborator on my Career Development Award and is providing recombinant proteins and performing protein-binding experiments for my research project. |
Impact | Pending |
Start Year | 2018 |
Title | Therapy for Charcot-Marie-Tooth disease |
Description | Advantageously, it has been found that targeting muscles with BDNF- or GDNF-boosting therapies could represent a viable therapeutic strategy for CMT2D, DI-CMTC and other ARS-related CMTs, as similar mechanisms of secretion and structural relaxation occur. In particular, it is herein conclusively demonstrated that altered neurotrophic signalling is integral to the CMT2D pathomechanism. Secreted by distal target cells, neurotrophins are long-distance signalling molecules taken-up by nerve termini and transported within signalling endosomes towards cell bodies - a process essential for neuronal survival called axonal transport. Through imaging of this process in live, anaesthetised mice, via a pioneering technique, it has been shown that CMT2D mice (Gars?ETAQ/+) display impaired axonal transport of neurotrophin-containing signalling endosomes in vivo, a pathological feature found in other neurodegenerative diseases. Moreover, intramuscular injection of recombinant human CMT2D-causing GlyRS into the muscles of wild-type mice caused significant endosome transport impairment in otherwise healthy motor axons, consistent with a non-cell autonomous disease mechanism for CMT2D. Importantly, it has been confirmed that impairments in BDNF-TrkB signalling underlie CMT2D and that pharmacological disruption of the BDNF-TrkB pathway results in endosome transport defects in wild-type mice. Testing the hypothesis that the mis-interaction between mutant GlyRS and Trk receptors may be driving this transport impairment, recombinant BDNF was injected into CMT2D muscles. BDNF is the neurotrophin ligand for TrkB, the main Trk receptor at the neuromuscular junction (NMJ). This rescued the in vivo transport defects of Gars?ETAQ/+ mice. The data herein further confirms the relevance of the treatment strategy in another ARS-related neuropathy, which is dominant-intermediate CMT type C (DI-CMT). This is caused by mutations in TyrRS-encoding YARS1. It is shown that homozygous YarsE196K mice display in vivo axonal transport defects and that there is aberrant interaction between TyrRSE196K and the extracellular domain of TrkB. The axonal transport is corrected with intramuscular injection of BDNF. Based on this work, a novel self-complementary AAV (scAAV) was generated to selectively augment BDNF in muscles using the muscle-specific tMCK promoter, thus bypassing side effects caused by BDNF overexpression in the central nervous system. Intraperitoneal AAV injections at postnatal day 2 (P2) confirmed that BDNF was increased in a muscle-restricted fashion. We then tested intramuscular injections of the gene therapy vector in YarsE196K/E196K mice at 8 months of age. Compared with eGFP control virus, boosting muscle BDNF levels successfully corrects axonal transport of signalling endosomes in DI-CMTC mice. Altogether, these findings demonstrate that selectively increasing BDNF availability in CMT2D and DI-CMTC muscle corrects axonal transport defects. Therefore, this novel gene therapy is likely beneficial for the treatment of the human neuropathy. Downstream pro-survival pathways are shared between BDNF and GDNF. Advantageously, it has been demonstrated herein that intramuscular administration of BDNF or GDNF rescues Gars?ETAQ/+ endosome in vivo transport to physiological levels, which demonstrates a role for the use of GDNF as well as BDNF. |
IP Reference | |
Protection | Patent / Patent application |
Year Protection Granted | 2023 |
Licensed | No |
Impact | The patent was filed on 9th March 2023. Arising from this discover, we have had the following manuscript accepted for publication in the journal JCI Insight: Sleigh JN, Villarroel-Campos D, Surana S, Wickenden T, Tong Y, Simkin RL, Vargas JNS, Rhymes ER, Tosolini AP, West SJ, Zhang Q, Yang XL, Schiavo G (2023) Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice. J Clin Invest (accepted 15th March 2023). |
Description | Frontiers for Young Minds article on Spinal Muscular Atrophy |
Form Of Engagement Activity | Engagement focused website, blog or social media channel |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Schools |
Results and Impact | I wrote an article on spinal muscular atrophy taregted at children interested in neuroscience. This is publihsed in the specialist journal for kids aged 8-14 called Frontiers for Young Minds. Sleigh JN, Christie-Brown V, Ryburn L, Yáñez-Muñoz R (2023) Spinal muscular atrophy: A rare but treatable disease of the nervous system. Front Young Minds 11: 1023423. |
Year(s) Of Engagement Activity | 2023 |
URL | https://kids.frontiersin.org/articles/10.3389/frym.2023.1023423 |
Description | Frontiers for Young Minds article on axonal transport |
Form Of Engagement Activity | Engagement focused website, blog or social media channel |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Schools |
Results and Impact | I wrote an article on axonal transport targeted at children interested in neuroscience. This is published in the specialist journal for kids aged 8-14 called Frontiers for Young Minds. Sleigh (2020) Axonal transport- The delivery system keeping nerve cells alive. Front Young Minds 8, 12. |
Year(s) Of Engagement Activity | 2020 |
URL | https://kids.frontiersin.org/article/10.3389/frym.2020.00012 |
Description | Rare Disease Day 2019 for charity SMA UK |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Schools |
Results and Impact | High schools from the Reading/Slough region attended Rare Disease Day events at Royal Holloway, where I ran a stall to provide information on the disease spinal muscular atrophy (SMA) as a representative of the UK charity SMA UK. I also gave advice on applying to universities and careers in research. |
Year(s) Of Engagement Activity | 2019 |
URL | https://www.royalholloway.ac.uk/research-and-teaching/departments-and-schools/biological-sciences/ev... |
Description | Rare Disease Day 2020 for charity SMA UK |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Schools |
Results and Impact | High schools from the Reading/Slough region attended Rare Disease Day events at Royal Holloway, where I ran a stall to provide information on the disease spinal muscular atrophy (SMA) as a representative of the UK charity SMA UK. I also gave advice on applying to universities and careers in research. |
Year(s) Of Engagement Activity | 2020 |
URL | https://www.royalholloway.ac.uk/research-and-teaching/departments-and-schools/biological-sciences/ev... |
Description | Rare Disease Day 2022 for charity SMA UK |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Schools |
Results and Impact | Sixth form students attended a Rare Disease Day virtual event at which I presented information on spinal muscular atrophy (SMA) and the charity SMA UK. The 'speed dating' involved highlighting the role of the charity and the genetics of the disease, followed by questions from the students. The event increased awareness of the condition, the role of charities in supporting patients and families with the disease, and the science behind treating the condition. |
Year(s) Of Engagement Activity | 2022 |
URL | https://www.royalholloway.ac.uk/research-and-teaching/departments-and-schools/biological-sciences/ab... |