Promoting Innovation and Collaboration: Translational Medicine in Exeter 2 (PICTME2)
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 (CIC) scheme is a key part of MRC’s translational research strategy and provides annual awards to institutions to flexibly support a portfolio of early stage translational research projects. CIC is designed to accelerate the transition from discovery research to viable translational projects by supporting preliminary studies to establish proof-of-concept so that the approach will then become competitive for more substantial translational funding.
People |
ORCID iD |
Mark Goodwin (Principal Investigator) |
Publications
Tábara LC
(2022)
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
in Brain : a journal of neurology
Schoenfelder A
(2023)
The Analytical and Clinical Validity of the pfSTEP Digital Biomarker of the Susceptibility/Risk of Declining Physical Function in Community-Dwelling Older Adults.
in Sensors (Basel, Switzerland)
Lin S
(2021)
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
in European journal of human genetics : EJHG
Lin S
(2022)
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
in NPJ genomic medicine
Leslie JS
(2022)
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
in Genetics in medicine : official journal of the American College of Medical Genetics
Khalaf-Nazzal R
(2022)
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
in American journal of human genetics
Khalaf-Nazzal R
(2021)
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
in Brain sciences
Juriasingani S
(2021)
Evaluating the Effects of Subnormothermic Perfusion with AP39 in a Novel Blood-Free Model of Ex Vivo Kidney Preservation and Reperfusion.
in International journal of molecular sciences
Juriasingani S
(2021)
Subnormothermic Perfusion with H2S Donor AP39 Improves DCD Porcine Renal Graft Outcomes in an Ex Vivo Model of Kidney Preservation and Reperfusion.
in Biomolecules
Hoyberghs J
(2020)
Refinement of the zebrafish embryo developmental toxicity assay.
in MethodsX
Description | T1D GRS is offered as an NHS diagnostic test from the Exeter and Dundee genetics testing laboratories. |
Geographic Reach | Local/Municipal/Regional |
Policy Influence Type | Contribution to new or Improved professional practice |
Impact | From birth screening for T1D risk |
Description | AstraZeneca - Investigating the action of AZD9833 -SERD in the estrogen responsive element (ERE) transgenic zebrafish |
Amount | £41,939 (GBP) |
Organisation | AstraZeneca |
Sector | Private |
Country | United Kingdom |
Start |
Description | Development of a novel assay for the early detection of drug induced limb malformation |
Amount | £1,900,000 (GBP) |
Organisation | Natural Environment Research Council |
Sector | Public |
Country | United Kingdom |
Start | 11/2022 |
End | 10/2025 |
Description | Development of a novel assay for the early detection of drug induced limb malformation |
Amount | £120,000 (GBP) |
Organisation | National Centre for the Replacement, Refinement and Reduction of Animals in Research (NC3Rs) |
Sector | Public |
Country | United Kingdom |
Start | 03/2023 |
End | 04/2026 |
Description | The development of a community specific newborn screening programme for the North American Anabaptist communities. |
Amount | £1,000,000 (GBP) |
Funding ID | Grant only just awarded. Application reference MR/X021351/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 03/2023 |
Description | Welcome Trust Strategic Award, seed-corn project (round 7): Estimation of volume and morphological abnormalities in larval zebrafish using machine learning |
Amount | £10,000 (GBP) |
Organisation | University of Exeter |
Sector | Academic/University |
Country | United Kingdom |
Start | 01/2020 |
End | 06/2020 |
Title | 'Estimation of volume and morphological abnormalities in larval zebrafish using machine learning |
Description | This utilises the combined expertise in zebrafish biology and programming skills and machine learning to develop software to create an automated approach to scoring some aspects of developmental phenotyping in zebrafish |
Type Of Material | Improvements to research infrastructure |
Year Produced | 2021 |
Provided To Others? | No |
Impact | Nascent at time of entry |
Title | Comprehensive analysis methods for developmental GC exposed zebrafish V.3 |
Description | This protocol describes methods for the molecular, behavioural, and bioinformatic analyses of GC-exposed zebrafish. All procedures were used for the study; Developmental Glucocorticoid exposure in zebrafish primes expression of genes linked to human psychiatric disorders (Choi et al., 2023) |
Type Of Material | Improvements to research infrastructure |
Year Produced | 2023 |
Provided To Others? | Yes |
Impact | This protocol describes methods for the molecular, behavioral, and bioinformatic analyses of GC-exposed zebrafish. All procedures were used for the study; Developmental Glucocorticoid exposure in zebrafish primes expression of genes linked to human psychiatric disorders (Choi et al., 2023) |
URL | https://www.protocols.io/view/comprehensive-analysis-methods-for-developmental-g-kxygx9ooog8j/v3 |
Title | Developing a novel genotyping tool to improve diagnosis and clinical management of inherited disease |
Description | Technology assay or reagent - Genotyping assay - Baple/Crosby - PlexSeq Diagnostics |
Type Of Material | Technology assay or reagent |
Year Produced | 2023 |
Provided To Others? | No |
Impact | Technology assay or reagent - Genotyping assay - Baple/Crosby - PlexSeq Diagnostics |
Title | Development of a novel assay for the early detection of drug induced limb malformation |
Description | AstraZeneca gene editing specialist provided as co-supervisor on NC3Rs grant to support translation and application of AZ novel gene editing technology and knowhow. Similarly, supported two further grant applications: BBSRC IPA (with AstraZeneca) (£675,000) Development of precise genome editing technology in zebrafish 1.01.2023- 31.12.2026 (funded) BBSRC IPA (with AstraZeneca) (£650 000) - Establishing the roles of oestrogen receptor 1 (ESR1) in olfactory development and function using novel CRISPR/Cas9-based knockouts in the zebrafish. Submitted |
Type Of Material | Improvements to research infrastructure |
Year Produced | 2022 |
Provided To Others? | No |
Impact | AstraZeneca gene editing specialist provided as co-supervisor on NC3Rs grant to support translation and application of AZ novel gene editing technology and knowhow. Similarly, supported two further grant applications: BBSRC IPA (with AstraZeneca) (£675,000) Development of precise genome editing technology in zebrafish 1.01.2023- 31.12.2026 (funded) BBSRC IPA (with AstraZeneca) (£650 000) - Establishing the roles of oestrogen receptor 1 (ESR1) in olfactory development and function using novel CRISPR/Cas9-based knockouts in the zebrafish. Submitted |
Title | Estimation of volume and morphological abnormalities in larval zebrafish using machine learning |
Description | We have integrated a Welcome Trust Strategic Award, seed-corn project (round 7): 'Estimation of volume and morphological abnormalities in larval zebrafish using machine learning' (Jan 2020 for 6 months). This utilises the combined expertise in zebrafish biology and programming skills and machine learning to develop software to create an automated approach to scoring some aspects of developmental phenotyping in zebrafish |
Type Of Material | Physiological assessment or outcome measure |
Year Produced | 2020 |
Provided To Others? | No |
Impact | We have integrated a Welcome Trust Strategic Award, seed-corn project (round 7): 'Estimation of volume and morphological abnormalities in larval zebrafish using machine learning' (Jan 2020 for 6 months). This utilises the combined expertise in zebrafish biology and programming skills and machine learning to develop software to create an automated approach to scoring some aspects of developmental phenotyping in zebrafish |
Title | Developing a novel genotyping tool to improve diagnosis and clinical management of inherited disease |
Description | Anabaptist Variant Server database of summary Anabaptist (Amish and Mennonite) genomic data |
Type Of Material | Database/Collection of data |
Year Produced | 2022 |
Provided To Others? | No |
Impact | Anabaptist Variant Server database of summary Anabaptist (Amish and Mennonite) genomic data |
Title | The development of a community specific newborn screening programme for the North American Anabaptist communities. |
Description | Anabaptist Variant Server (AVS) - database of summary Anabaptist (Amish and Mennonite) genomic data |
Type Of Material | Database/Collection of data |
Year Produced | 2023 |
Provided To Others? | No |
Impact | Anabaptist Variant Server (AVS) - database of summary Anabaptist (Amish and Mennonite) genomic data |
Description | Determining tissue uptake and retention of lead compounds identified for improving organ / tissue preservation and transplantation |
Organisation | Bridge to Life |
Country | United States |
Sector | Private |
PI Contribution | £44,952 in directly incurred costs for this project. Breakdown includes: -Synthesis of labelled compounds, throughout -CARS/spectroscopy reagents, microscopy consumables (filters, polarisers and a replacement objective) -Consumables/Animal costs (UoE)- husbandry contributions to Drs. Oltean and Koeners; use of their facilities to harvest organs, contribution to animal disposal/running costs etc -Consumables/animal cost- Prof. Alp Sener's group - surgical training in organ removal, preservation and transplantation -Cell culture (renal cell lines) and mitochondrial isolation from rat organs -Staff time for 6 months. F34 @ 1.0 FTE -Staff time for 6 months, F34 @ 0.2 FTE |
Collaborator Contribution | -B2L: UW fluid for organ preservation experiments will be provided gratis (In-kind) -B2L:Consultancy costs (in-kind) -B2L: cash contributions for travel and subsistence for training/upskilling -Training/upskilling: Travel to the Matthew Mailing Centre for Translational Transplant Studies, University of Western Ontario, Canada / Prof. Alp Sener's laboratory/group up to 2 weeks - economy airfare, hotel with breakfast, meals - to learn transplant procedure which will be modelled at UoE as well as watch human kidney transplant surgery (in-kind). Prof. Sener time in-kind: |
Impact | Project ongoing |
Start Year | 2019 |
Description | Developing a 'from blood' T1D-GRS biochip |
Organisation | Randox Laboratories |
Country | Global |
Sector | Private |
PI Contribution | £44,885 directly incurred costs: -10 months 100% FTE PDRA 1st Feb - 30th Nov 2020 -Commercially available 'from blood' T1D-GRS reagents and consumables -Travel budget for PDRA to work at Randox for a month |
Collaborator Contribution | £44,885 in kind contributions: -10 months salary for Randox employees working on 'from blood' T1D-GRS methods -Consumables: 'from blood' T1D-GRS reagents developed and manufactured by Randox |
Impact | Currently ongoing |
Start Year | 2020 |
Description | Developing a novel genotyping tool to improve diagnosis and clinical management of inherited disease |
Organisation | PlexSeq Diagnostics |
Country | United States |
Sector | Private |
PI Contribution | £22,000 directly incurred costs + in-kind contributions: -Consumables for test development in Exeter -30% Technician over 1 year |
Collaborator Contribution | £62,250 in kind contributions: -PlexSeq consultancy fees and staff costs for platform development -PlexSeq consumable and machine running costs for platform development |
Impact | Currently ongoing |
Start Year | 2020 |
Description | Development of a novel assay for the early detection of drug induced limb malformation. |
Organisation | AstraZeneca |
Country | United Kingdom |
Sector | Private |
PI Contribution | £24,656 directly incurred costs: -130 days staff time -60 days staff time -20 days staff time -Associated costs for travel/secondment |
Collaborator Contribution | £32,100 ($40,000) cash contributions for the following costs: -130 days staff time -60 days staff time -20 days staff time -qPCR consumables £10,000 in kind contributions: -Molecular biology reagents |
Impact | Currently ongoing |
Start Year | 2020 |
Description | Identifying physical activity and physical function characteristics that are important to patient related outcomes following total knee replacement surgery based on wrist worn accelerometer data |
Organisation | Activinsights |
Country | United Kingdom |
Sector | Charity/Non Profit |
PI Contribution | Directly incurred costs (£43,334): -PDRA 12 Months 100% FTE -T&S and Accommodation for PDRA to Activinsights -T&S and Accommodation for Activinsights to Visit Exeter |
Collaborator Contribution | £34,608 in-kind contributions: -Equipment (20 devices for measurement) -Staff member 1 (Activinsights) 7.5%f te over 12 months -Staff member 2 (Activinsights) 3% fte over 12 months -Staff member 3 (Activinsights) 3%fte over 12 months -Staff member 4 (Activinsights) 5%f te over 12 months |
Impact | Project currently ongoing. |
Start Year | 2019 |
Title | Developing a 'from blood' T1D-GRS biochip |
Description | T1D GRS biochip |
Type | Therapeutic Intervention - Medical Devices |
Year Development Stage Completed | 2023 |
Development Status | Under active development/distribution |
Impact | T1D GRS biochip |
Description | 2022 Symposia given at the International Society of Behavioural Nutrition and Physical Activity |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Talk on Identifying physical activity and physical function characteristics that are important to patient related outcomes following total knee replacement surgery based on wrist worn accelerometer data at the International Society of Behavioural Nutrition and Physical Activity |
Year(s) Of Engagement Activity | 2022 |
URL | https://isbnpa.org/about-us/ |
Description | Chemicals and Environmental Health. Waking up to Planetary Health 2020. Royal Devon and Exeter Hospital and the University of Exeter Medical School. |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Industry/Business |
Results and Impact | Prof Tyler was invited to be a keynote speaker at Chemicals and Environmental Health. Waking up to Planetary Health 2020. Royal Devon and Exeter Hospital and the University of Exeter Medical School. |
Year(s) Of Engagement Activity | 2020 |
Description | Developing a 'from blood' T1D-GRS biochip |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Other audiences |
Results and Impact | Numerous national and international presentations SAB for DIPP study, ENDIA study, IBM Watson T1DI study |
Year(s) Of Engagement Activity | 2023 |
Description | Developing a 'from blood' T1D-GRS biochip - Oral presentation and prize shortlist Diabetes UK Annual professional conference 2023 |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Other audiences |
Results and Impact | Templeman and Luckett Oral presentation and prize shortlist Diabetes UK Annual professional conference 2023 |
Year(s) Of Engagement Activity | 2023 |
Description | Developing a 'from blood' T1D-GRS biochip - Presentation INNODIA meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Other audiences |
Results and Impact | Luckett oral presentation INNODIA meeting March 2023 |
Year(s) Of Engagement Activity | 2022 |
Description | Developing a novel genotyping tool to improve diagnosis and clinical management of inherited disease |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Undergraduate students |
Results and Impact | Joint organisation of a one day workshop on 28th Feb for aprox 45 Medical Students at the Arab American University Jenin Campus on interpretation of genomic variants in rare disease and the potential for using knowledge of genetic founder variants for newborn screening and diagnosis. |
Year(s) Of Engagement Activity | 2023 |
Description | Endocrine Disrupting Chemicals and Chemicals of Environmental Concern. The 22nd UK-Japan Annual Scientific Workshop on Research into Environmental Endocrine Disrupting Chemicals. |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Industry/Business |
Results and Impact | Prof Tyler was invited to give the opening address at the Endocrine Disrupting Chemicals and Chemicals of Environmental Concern. The 22nd UK-Japan Annual Scientific Workshop on Research into Environmental Endocrine Disrupting Chemicals. |
Year(s) Of Engagement Activity | 2020 |
Description | South West Zebrafish Meeting University of Bristol (Tyler, Winter and Ball) |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Industry/Business |
Results and Impact | A talk/presentation - South West Zebrafish Meeting University of Bristol (Tyler, Winter and Ball) |
Year(s) Of Engagement Activity | 2020 |
Description | Talk - Development and Application of Transgenic Zebrafish for Understanding Chemical and Nanoparticle Exposure Effects |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Talk - Development and Application of Transgenic Zebrafish for Understanding Chemical and Nanoparticle Exposure Effects The 23rd UK-Japan Annual Scientific Workshop on Research into Environmental Endocrine Disrupting Chemicals & Chemicals of Emerging Concern - Virtual meeting 29-30th November 2021. (Tyler) |
Year(s) Of Engagement Activity | 2021 |
URL | https://ihara-lab.jp/news/post-407/ |
Description | The Future and the Past at the 24th UK-Japan Annual Scientific Workshop on Research into Environmental Endocrine Disrupting Chemicals & Chemicals of Emerging Concern |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Other audiences |
Results and Impact | Chair and Opening talk - Environmental Endocrine Disrupting Chemicals & Chemicals of Emerging Concern - The Future and the Past at the 24th UK-Japan Annual Scientific Workshop on Research into Environmental Endocrine Disrupting Chemicals & Chemicals of Emerging Concern - Virtual meeting 31st October -1 November 2022. Hosted by defra and the MoE Japan. (Tyler) |
Year(s) Of Engagement Activity | 2022 |