Promoting Innovation and Collaboration: Translational Medicine in Exeter (PICTME)
Lead Research Organisation:
UNIVERSITY OF EXETER
Department Name: UNLISTED
Abstract
Abstracts are not currently available in GtR for all funded research. This is normally because the abstract was not required at the time of proposal submission, but may be because it included sensitive information such as personal details.
Technical Summary
The Confidence in Concept scheme is a key part of MRC’s translational research strategy and provides annual awards to institutions, to be used flexibly to support the earliest stages of multiple translational research projects. The award can be used by the institution to support a number of preliminary-stage translational projects. The projects supported should aim to provide sufficient preliminary data to establish the viability of an approach –– before seeking more substantive funding. It is intended to accelerate the transition from discovery research to translational development projects by supporting preliminary work or feasibility studies to establish the viability of an approach.
People |
ORCID iD |
Mark Goodwin (Principal Investigator) |
Publications
Bishop A
(2019)
Fluorescent tools to analyse peroxisome-ER interactions in mammalian cells.
in Contact (Thousand Oaks (Ventura County, Calif.))
Title | Toward finding novel diagnostic solutions for children with celiac disease, using common genetic variation |
Description | https://t1dpredictor.diabetesgenes.org app for GRS interpretation developed as a beta version for t1d grs score interpretation (JDRF funded but closely linked to CiC project) |
Type Of Art | Film/Video/Animation |
Year Produced | 2023 |
Impact | https://t1dpredictor.diabetesgenes.org app for GRS interpretation developed as a beta version for t1d grs score interpretation (JDRF funded but closely linked to CiC project) |
Description | PPI engagement group re stem cell implantation for people with dementia |
Geographic Reach | National |
Policy Influence Type | Participation in a guidance/advisory committee |
Description | (PERICO) - Peroxisome Interactions and Communication |
Amount | € 3,974,527 (EUR) |
Funding ID | 812968 |
Organisation | European Commission |
Sector | Public |
Country | European Union (EU) |
Start | 09/2018 |
End | 09/2022 |
Description | Determining tissue uptake and retention of lead compounds identified for improving organ / tissue preservation and transplantation |
Amount | £140,826 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start |
Description | Marie Sklodowska-Curie Actions, Innovative Training Networks (ITN) (PERICO) |
Amount | € 3,900,000 (EUR) |
Funding ID | 812968 |
Organisation | European Commission |
Department | Horizon 2020 |
Sector | Public |
Country | European Union (EU) |
Start |
Description | Molecules & Cells Sciences Committee |
Amount | £592,000 (GBP) |
Funding ID | BB/R016844/1 |
Organisation | Biotechnology and Biological Sciences Research Council (BBSRC) |
Sector | Public |
Country | United Kingdom |
Start | 12/2018 |
End | 11/2021 |
Description | Predicting Reproductive Lifespan |
Amount | £84,508 (GBP) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start |
Description | Research Equipment Capital Fund |
Amount | £7,000 (GBP) |
Organisation | University of Exeter |
Sector | Academic/University |
Country | United Kingdom |
Start | 03/2019 |
Description | Understanding how regulation of membrane contacts coordinates lipid channelling at the peroxisome-ER metabolic hub |
Amount | £541,783 (GBP) |
Funding ID | BB/T002255/1 |
Organisation | Biotechnology and Biological Sciences Research Council (BBSRC) |
Sector | Public |
Country | United Kingdom |
Start | 12/2019 |
End | 09/2023 |
Title | Genotyping assay |
Description | delineation of a new autosomal recessive tubulinopathy associated with PRUNE mutation and the identification of a hypomorphic mutation of PCNA that underlies a novel autosomal recessive DNA repair disorder. |
Type Of Material | Technology assay or reagent |
Year Produced | 2022 |
Provided To Others? | No |
Impact | delineation of a new autosomal recessive tubulinopathy associated with PRUNE mutation and the identification of a hypomorphic mutation of PCNA that underlies a novel autosomal recessive DNA repair disorder. |
Title | Protocol developed and approved by MHRA |
Description | Clive Ballard- Protocol developed and approved by MHRA |
Type Of Material | Physiological assessment or outcome measure |
Year Produced | 2020 |
Provided To Others? | No |
Impact | Protocol developed and approved by MHRA |
Title | Reporter cell line |
Description | Reporter cell lin efor screening of ACBD5 expression |
Type Of Material | Cell line |
Year Produced | 2018 |
Provided To Others? | No |
Impact | - |
Title | Toward finding novel diagnostic solutions for children with celiac disease, using common genetic variation |
Description | From blood spot combined celiac and t1d GRS panel developed and being used for newborn screening research, and for cross sectional T1D screening research |
Type Of Material | Model of mechanisms or symptoms - human |
Year Produced | 2023 |
Provided To Others? | No |
Impact | From blood spot combined celiac and t1d GRS panel developed and being used for newborn screening research, and for cross sectional T1D screening research |
Title | Toward finding novel diagnostic solutions for children with celiac disease, using common genetic variation |
Description | Private github repository for combined newborn screening panel that includes celiac and type 1 diabetes GRSs |
Type Of Material | Database/Collection of data |
Year Produced | 2023 |
Provided To Others? | No |
Impact | Private github repository for combined newborn screening panel that includes celiac and type 1 diabetes GRSs |
Description | Modulation of ACBD5 to reduce lipid accumulation in X-linked adrenoleukodystophy and related disorders |
Organisation | Academic Medical Center |
Country | Netherlands |
Sector | Academic/University |
PI Contribution | We have an existing relationship with the AMC/Prof. Hans R. Waterham. We recently published cooperative research on ACBD5 deficiency, a novel peroxisomal disorder, which was diagnosed and characterised in a cooperative approach (Ferdinandusse et al. 2017, J Med Genet. 54:330). The findings are relevant for this application. Prof. Waterham's research is focused on the molecular biology and clinical genetics of metabolic disorders with particular emphasis on peroxisomal defects. He made significant contributions to the classification, discovery and diagnostics of peroxisomal disorders (Wanders & Waterham 2006, Annu Rev Biochem 75:295; Waterham et al. 2007, N Engl J Med 356:1736; Ebberink et al. 2011, Hum Mutat 32:59) and established innovative tools and models to measure peroxisomal lipid metabolism (van Roermund et al. 2008, FASEB J 22:4201). In addition, we have established a relationship with Novartis Institutes for BioMedical Research, Basel, Switzerland. Novartis will provide access to screening technologies/facilities and support a cell-based screen with up to 50'000 compounds. All data, along with structures of confirmed active compounds will be freely shared with M. Schrader and the University of Exeter. Based on the legal framework of a standard collaboration agreement, M. Schrader/UoE will keep all IP. |
Collaborator Contribution | The Academic Medical Centre/Prof. H. Waterham will make an "in kind" contribution. They will support the generation of yeast strains and lipid/ß-oxidation measurements and cover costs for consumables/reagents (£8,000) as well as salary costs of a research technician (0.5 FTE for two months) (£2,427) for yeast work and mammalian cell culture at AMC. As an "in-kind" contribution, Novartis will contribute up to 50'000 LC/MS quality-controlled compounds in enough quantity to screen up to 10 µM final concentration; 1536/384 microtiter plates suitable for the screen and calibrated for the Novartis screening instruments; Robotic tips, liquid dispenser cassettes and other consumables for the screen; Tissue culture vessels and medium for culturing and expansion of the reporter cell line; Functional, up-to data screening infrastructure and data capturing/processing/management pipelines; Support with processing of the raw data by Novartis bioinformaticians. We estimated a match funding of £25,000 (the contribution will likely be higher). |
Impact | TBC |
Start Year | 2017 |
Description | Modulation of ACBD5 to reduce lipid accumulation in X-linked adrenoleukodystophy and related disorders |
Organisation | Novartis |
Country | Global |
Sector | Private |
PI Contribution | We have an existing relationship with the AMC/Prof. Hans R. Waterham. We recently published cooperative research on ACBD5 deficiency, a novel peroxisomal disorder, which was diagnosed and characterised in a cooperative approach (Ferdinandusse et al. 2017, J Med Genet. 54:330). The findings are relevant for this application. Prof. Waterham's research is focused on the molecular biology and clinical genetics of metabolic disorders with particular emphasis on peroxisomal defects. He made significant contributions to the classification, discovery and diagnostics of peroxisomal disorders (Wanders & Waterham 2006, Annu Rev Biochem 75:295; Waterham et al. 2007, N Engl J Med 356:1736; Ebberink et al. 2011, Hum Mutat 32:59) and established innovative tools and models to measure peroxisomal lipid metabolism (van Roermund et al. 2008, FASEB J 22:4201). In addition, we have established a relationship with Novartis Institutes for BioMedical Research, Basel, Switzerland. Novartis will provide access to screening technologies/facilities and support a cell-based screen with up to 50'000 compounds. All data, along with structures of confirmed active compounds will be freely shared with M. Schrader and the University of Exeter. Based on the legal framework of a standard collaboration agreement, M. Schrader/UoE will keep all IP. |
Collaborator Contribution | The Academic Medical Centre/Prof. H. Waterham will make an "in kind" contribution. They will support the generation of yeast strains and lipid/ß-oxidation measurements and cover costs for consumables/reagents (£8,000) as well as salary costs of a research technician (0.5 FTE for two months) (£2,427) for yeast work and mammalian cell culture at AMC. As an "in-kind" contribution, Novartis will contribute up to 50'000 LC/MS quality-controlled compounds in enough quantity to screen up to 10 µM final concentration; 1536/384 microtiter plates suitable for the screen and calibrated for the Novartis screening instruments; Robotic tips, liquid dispenser cassettes and other consumables for the screen; Tissue culture vessels and medium for culturing and expansion of the reporter cell line; Functional, up-to data screening infrastructure and data capturing/processing/management pipelines; Support with processing of the raw data by Novartis bioinformaticians. We estimated a match funding of £25,000 (the contribution will likely be higher). |
Impact | TBC |
Start Year | 2017 |
Description | Project manager for completion of regulatory documentation for a phase 1 trial of neural stem therapy for Alzheimer's disease |
Organisation | Reneuron |
Country | United Kingdom |
Sector | Private |
PI Contribution | Past studies with stem cell transplantation in animal models of Alzheimer's disease have shown positive outcomes, indicating that this may be linked to the stimulation of factors in the brain that promote cell regeneration. However, to date no human grade stem cells have been available to test the efficacy of this treatment in people with Alzheimer's disease. There is now an exciting opportunity to take forward a human grade neural stem line (the CTX line) into a clinical trial, but the university first needs expert support to overcome regulatory hurdles so that this can be approved.This collaboration with ReNeuron seeks to initiate a 'first in man' clinical trial of Neural Stem Cell implantation for those with early Alzheimer's disease. This ground-breaking study could lead to the development of a major disease modifying therapy for dementia, a condition affecting over 850,000 people in the UK. Alzheimer's disease accounts for the majority of people with dementia (50-70%) and there are currently no effective disease modifying treatments; hence a huge unmet need. |
Collaborator Contribution | ReNeuron is a strategic partner providing the cells, background IP and human safety data. If successful this project will likely lead to a joint venture with the company, and could represent a natural extension to their future pipeline depending on the successful outcome of their current trial on stroke. Stem-cell therapy in the form of bone marrow transplant is now widely accepted as a therapy. Research is underway to develop various sources for stem cells, and to apply stem-cell treatments for neurodegenerative diseases and conditions such as diabetes, heart disease, and other conditions. Companies belonging to this business sector would likely find the spin-out an attractive option for a potential acquisition. £180k in-kind contribution from ReNeuron in the form of stem cells (£160k) and consultancy (£20k). Dr Joe Butchart- Consultant in Geriatric Medicine (RD&E) and Professor Dag Aarsland and Professor Ashkan Keyoumars from Kings College will be key clinician and clinic advisors. |
Impact | TBC |
Start Year | 2017 |
Description | Toward finding novel diagnostic solutions for children with celiac disease, using common genetic variation |
Organisation | Randox Laboratories |
Country | Global |
Sector | Private |
PI Contribution | Confidence in Concept funding: We are requesting a full time E28 post-doc with laboratory and bioinformatics skills for 9 months. Working with the principal applicant, their time will predominantly be taken up with 1. Development of in house LGC and taqman genotyping assays, data handling and analysis tasks, including storing, manipulating and statistically analysing the genome-wide association study from the UK Biobank, and statistically refining and assessing the genetic risk score. In addition to informatic skills, the applicant will also be involved in developing the in house assay which requires some basic wet-lab laboratory experience. Consumables: We have budgeted for the development of 70 KASP genotyping assays to be genotyped in a maximum of 2500 samples to allow for development of the tests. See below section for consumable costings. UoE College of Medicine and Health will cover directly allocated costs for staff involved (estates, indirect, salary costs for PI and CoI @ 2 hrs/week, and JL 9 months FTE) and overheads. |
Collaborator Contribution | RANDOX will provide (in-kind): - Full time salary for 1 Research Scientist to optimise Celiac disease related primers on biochip Assay, complete verification on samples provided by Exeter and complete necessary verification and validation studies for CE Marking of product. - Salary costs for Randox staff. Salary costs for software analyst to integrate risk Score into Randox Investigator current software. - Production of Biochips for development, verification and validation of Celiac related primers on Biochip Assay. 3 lots of reagents are required for such studies. Travel to University of Exeter for Randox staff |
Impact | Still active |
Start Year | 2018 |
Title | HYDROGEN SULFIDE RELEASING COMPOUNDS AND THEIR USE |
Description | The invention relates to a compound comprising a mitochondrial targeting group linked to group capable of releasing hydrogen sulfide, or a pharmaceutically acceptable salt thereof, for use in the treatment of the human or animal body by surgery or therapy. The invention also relates to the use of the compound in the treatment of a plant, and to certain forms of the compound. |
IP Reference | WO2013045951 |
Protection | Patent granted |
Year Protection Granted | 2013 |
Licensed | Commercial In Confidence |
Impact | Nascent at time of entry |
Title | Toward finding novel diagnostic solutions for children with celiac disease, using common genetic variation |
Description | Lisencing option exercised by Randox for T1D GRS, planned for Celiac GRS and T1D GRS2 |
IP Reference | |
Protection | Trade Mark |
Year Protection Granted | 2023 |
Licensed | Yes |
Impact | Lisencing option exercised by Randox for T1D GRS, planned for Celiac GRS and T1D GRS2 |
Title | Toward finding novel diagnostic solutions for children with celiac disease, using common genetic variation |
Description | Randox T1D Biochip |
Type | Therapeutic Intervention - Medical Devices |
Year Development Stage Completed | 2023 |
Development Status | Under active development/distribution |
Impact | Randox T1D Biochip |
Description | "As discovered in small village in Palestine" |
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 | Invited talk about Alstrom syndrome in the West Bank. Describing value of cost effective early diagnosis and carrier testing. |
Year(s) Of Engagement Activity | 2021 |
URL | https://www.alstrom.org.uk/as-global/#AS-Global-Conference-2021 |
Description | 'Cellular dynamics: organelle-cytoskeleton interface' Meeting, Lisbon, Portugal (May 19 - 22, 2019): "Shapers and Movers in peroxisome Dynamics" |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Other audiences |
Results and Impact | 11:15 - 11:35 Michael Schrader, University of Exeter, UK, Shapers and movers in peroxisome dynamics |
Year(s) Of Engagement Activity | 2019 |
URL | https://www.biologists.com/wp-content/uploads/JCS19-Meeting-Programme.pdf |
Description | 2nd EMBO Workshop on Membrane Contact Sites |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Other audiences |
Results and Impact | 2nd EMBO Workshop on Membrane Contact Sites, Arosa, Switzerland (September 21 - 25, 2018): "Peroxisome-organelle contacts in mammals - implications for health and disease" (invited speaker) |
Year(s) Of Engagement Activity | 2018 |
URL | http://meetings.embo.org/event/18-membrane |
Description | PPI engagement group re stem cell implantation for people with dementia |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | PPI engagement group re stem cell implantation for people with dementia |
Year(s) Of Engagement Activity | 2020 |
Description | Spalding Gentlemen's Society |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | Spalding Gentlemen's Society, Spalding, UK (November 16, 2018): "The cell biology of disease - how faulty "factories" in the cell can make us sick" |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.sgsoc.org/lectures |
Description | Toward finding novel diagnostic solutions for children with celiac disease, using common genetic variation |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Industry/Business |
Results and Impact | Randox owner visit UoE in January to finalise plans for T1D GRS and discuss other translational projects |
Year(s) Of Engagement Activity | 2023 |
Description | Zellweger UK charity (ZUK) Family Conference, Okehampton, Devon, UK (September 06-08, 2019) "The relationship between the Peroxisome and the Endoplasmic Reticulum" |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Zellweger UK charity (ZUK) Family Conference, Okehampton, Devon, UK (September 06-08, 2019) "The relationship between the Peroxisome and the Endoplasmic Reticulum" |
Year(s) Of Engagement Activity | 2019 |
URL | https://www.zellweger.org.uk/news-2/ |