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A functional genomics pipeline for genetic discovery in diabetic kidney disease

Lead Research Organisation: Queen's University Belfast
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

A functional genomics pipeline for genetic discovery in diabetic kidney disease

Publications

10 25 50

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Betzler BK (2023) Deep learning algorithms to detect diabetic kidney disease from retinal photographs in multiethnic populations with diabetes. in Journal of the American Medical Informatics Association : JAMIA

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Hill C (2025) Integrated multiomic analyses: An approach to improve understanding of diabetic kidney disease. in Diabetic medicine : a journal of the British Diabetic Association

 
Description Scientific Advisor to the Northern Ireland Kidney Research Fund
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Participation in a guidance/advisory committee
Impact Provision of understanding and engagement with the public around supporting renal research.
URL https://nikidneyresearch.org/research/meet-the-medical-advisors/
 
Description Exploring new approaches for telomere associations with kidney disease
Amount £2,200 (GBP)
Funding ID Tiernan Coulter Summer Studentship 
Organisation Northern Ireland Kidney Research Fund 
Sector Charity/Non Profit
Country United Kingdom
Start 05/2023 
End 08/2023
 
Description Irish Clinical Academic Training: An All-Ireland Integrated Training Programme for Clinical Academics
Amount € 10,993,503 (EUR)
Funding ID ICAT-2022-001 
Organisation Health Research Board (HRB) 
Sector Public
Country Ireland
Start 07/2022 
End 07/2030
 
Description NIKRF Clinical and Non-Clinical Fellowship Awards
Amount £600,000 (GBP)
Organisation Northern Ireland Kidney Research Fund 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2024 
End 07/2027
 
Description Research Operations Manager
Amount £182,471 (GBP)
Organisation Northern Ireland Kidney Research Fund 
Sector Charity/Non Profit
Country United Kingdom
Start 04/2024 
End 04/2027
 
Description Transforming Diabetic Kidney Disease Care: Harnessing Integrative Multi-Omics Analysis for Precision Diagnosis and Management
Amount £699,809 (GBP)
Funding ID Application ID: 10081229 
Organisation Innovate UK 
Sector Public
Country United Kingdom
Start 12/2023 
End 12/2025
 
Description Mahidol University Visiting Scholarship 
Organisation Mahidol University
Department Faculty of Medicine Ramathibodi Hospital
Country Thailand 
Sector Hospitals 
PI Contribution 1 month sabbatical to Mahidol University, Bangkok , Thailand to develop collaborative research opportunities using real world data to investigate kidney outcomes.
Collaborator Contribution Development and cleaning of a real world dataset of ca. 1 million patients to investigate health outcomes over a 10 year period.
Impact 1. Chaiyakittisopon K, Ponthongmak W, Chuasuwan A, Pattanaprateep O, Ingsathit A, McKay G, Attia J, Thakkinstian A (2025). Clinical effectiveness of phosphate binders for treating hyperphosphatemia in end-stage renal disease patients: a multicenter real-world study. BMC Nephrol (in press). 2. Tanayapong P, Tantrakul V, Liamsombut S, Siriyotha S, McKay G, Attia J, Thakkinstian A (2025). Comparative efficacy and safety of multiple wake-promoting agents for the treatment of residual sleepiness in obstructive sleep apnea despite continuous positive airway pressure: A network meta-analysis of randomized controlled trials. CNS Drugs (in press). 3. Hunsuwan S, Boongird S, Ingsathit A, Ponthongmak W, Unwanatham N, McKay GJ, Attia J, Thakkinstian A (2025). Real-world effectiveness and safety of sodium-glucose co-transporter 2 inhibitors in chronic kidney disease. Sci Rep. 2025 Jan 11;15(1):1667. 4. Keesukphan A, Suntipap M, Thadanipon K, Boonmanunt S, Numthavaj P, McKay GJ, Attia J, Thakkinstian A (2025). Effects of Electrical and Magnetic Stimulation on Upper Extremity Function after Stroke: A Systematic Review and Network Meta-analysis. PM & R (in press). 5. Pornsuriyasak P, Sa-nguansai S, Thadanipon K, Numthavaj P, McKay GJ, Attia, J, Thakkinstian A (2025). Regular versus as-needed treatments for mild asthma in children, adolescents, and adults: a systematic review and network meta-analysis. BMC Med 23, 21 (2025). https://doi.org/10.1186/s12916-025-03847-z. 6. Limotai C, Jirasakuldej S, Wongwiangiunt S, Tumnark T, Suwanpakdee P, Wangponpattanasiri K, Rakchue P, Tungkasereerak C, Pleumpanupatand P, Tansuhaj P, Ekkachon P, Kittipanprayoon S, Kerddonfag A, Pobsuk T, Pattanateepapon A, Phanthumchinda K, Suwanwela NC, Thaipisuttikul I, Boonyapisit K, Ingsathit A, Pattanaprateep O, Attia J, McKay GJ, Rossetti AO, Thakkinstian A, and Tele-cRCT Study Group (2025). Efficacy of delivery of care with Tele-continuous EEG in critically ill patients: A multicenter randomized controlled trial (Tele-cRCT Study) study. Crit Care. 2025 Jan 7;29(1):15. 7. Wiwatthanasetthakarn P, Ponthongmak W, Looareesuwan P, Tansawet A, Numthavaj P, McKay GJ, Attia J, Thakkinstian A (2024). Development and Validation of a Literature Screening Tool: Few-Shot Learning Approach in Systematic Reviews. J Med Internet Res 2024 Dec 11;26:e56863. 8. Lolak S, Attia J, McKay GJ, Thakkinstian A (2024). Towards Personalized Stroke Prevention - Application of Dragonnet and Conformal Inference for Estimating Individualized Treatment Effects: A Retrospective Cohort. JMIR Cardio. 2025 Jan 8;9:e50627. 9. Tansawet A, Looareesuwan P, Teza H, Boongird S, McKay GJ, Attia J, Pattanaprateep O, Thakkinstian A (2024). Effects of sodium-glucose cotransporter-2 inhibitors on chronic kidney disease progression: a multi-state survival model. Diabetol Metab Syndr. 2024 Nov 23;16(1):281. 10. Amornritvanich P, Anothaisintawee T, Attia J, McKay GJ, Thakkinstian A (2024). Efficacy of Mineralocorticoid Receptor Antagonists on Kidney and Cardiovascular Outcomes in Patients with Chronic kidney disease: An umbrella review. Kidney Medicine 2024 Dec 13;7(2):100943. 11. Siriyotha S, Anothaisintawee T, Looareesuwan P, McKay GJ, Attia J, Thakkinstian A (2024). Effectiveness of Glucagon-Like Peptide-1 Receptor Agonists for reduction of body mass index and blood glucose control in patients with type 2 diabetes mellitus and obesity: A retrospective cohort study. BMJ Open 2024 Nov 24;14(11):e086424. 12. Piebpien P, Pattanaprateep O, Tansawet A, Pattanateepapon A, Wilasrusmee C, Mckay GJ, Attia J, Thakkinstian A (2024). Prediction model of surgical site infection in abdominal surgery: Traditional statistical models versus machine learning. Int J Med Res 2024 Nov;52(11):3000605241293696. 13. Nyokabi P, Youngkong S, Bagepally BS, Okech T, Chaikledkaew U, McKay GJ, Attia J, Thakkinstian A (2024). A systematic review and quality assessment of economic evaluations of kidney replacement therapies in end-stage kidney disease. Sci Rep 14, 23018 (2024). https://doi.org/10.1038/s41598-024-73735-8. 14. Jongkhajornpong P, Numthavaj P, Anothaisintawee T, Lekhanont K, McKay G, Attia J, Thakkinstian A (2024). Efficacy of 100% Autologous Platelet-Rich Plasma and 100% Autologous Serum in Dry Eye Disease: A Randomized Controlled Trial. BMJ Open Ophthalmol 2024 Oct 8;9(1):e001857. 15. Siriyotha S, Lukkunaprasit T, Looareesuwan P, Kunakorntham P, Anothaisintawee T, Nimitphong H, McKay GJ, Attia J, Thakkinstian A (2024). Individual treatment effects of sodium-glucose co-transporter-2 inhibitors on the risk of chronic kidney disease in patients with type 2 diabetes: A counterfactual prediction model based on real-world data. Diabetes Obes Metab 2024 Oct;26(10):4418-4428. 16. Suraarunsumrit P, Srinonprasert V, Kongmalai T, Suratewat S, Chaikledkaew U, Rattanasiri S, McKay G, Attia J, Thakkinstian A (2024). Outcomes associated with Postoperative Cognitive Dysfunction (POCD): a Systematic Review and Meta-analysis. Age and Ageing 2024 Jul 2;53(7):afae160. 17. Numthavuj P, Anothaisintaweea T, Attia J, McKay GJ, Thakkinstian A (2024). Efficacy of migraine prophylaxis treatments for treatment naïve patients and those with prior treatment failure: A protocol for systematic review and network meta-analysis of randomized controlled trials. BMJ Open 2024 Mar 1;14(3):e077916. 18. Tansawet A, Siribumrungwong B, Techapongsatorn S, Numthavaj P, Poprom N, McKay GJ, Attia J, Thakkinstian A (2024). Delayed versus primary closure to minimize risk of surgical-site infection for complicated appendicitis: A secondary analysis of a randomized trial using counterfactual prediction modelling. Infect Control Hosp Epidemiol. 2024 Mar;45(3):322-328.
Start Year 2023
 
Description A Palette of Possibilities: Celebrating Kidney Health 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact An afternoon filled with interactive activities and inspiring talks.
Art for Healing: Learn how art is used to support kidney patients undergoing dialysis. Work alongside researchers from the QUB Renal Arts Group to create your own artwork!
Science in Action: Embark on a scientific journey with QUB researchers from the Molecular Epidemiology and Public Health group. Learn about how the environment and our genetics can impact our health. Build your own candy DNA model and learn about ground-breaking research revolutionising kidney disease therapies.
Community Impact: Hear from kidney disease charities, discovering their impactful work in supporting patients and families.
Enjoy a blend of art, science, music, and community, leaving you inspired and informed.
Year(s) Of Engagement Activity 2025
URL https://nisciencefestival.com/events/a-palette-of-possibilities-celebrating-kidney-health
 
Description A Palette of Possibilities: Celebrating Kidney Health - NI Science Festival Public Engagement 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact I organised an event that brought together charities, researchers, and the general public for an afternoon filled with interactive activities and inspiring talks.

Art for Healing: Participants learned how art supports kidney patients undergoing dialysis and worked alongside researchers from the QUB Renal Arts Group to create their own artwork.

Science in Action: Attendees embarked on a scientific journey with QUB researchers from the Molecular Epidemiology and Public Health group, learning about the impact of the environment and genetics on health. They built their own candy DNA models and discovered groundbreaking research revolutionising kidney disease therapies.

Community Impact: Participants heard from kidney disease charities about their impactful work in supporting patients and families.
Year(s) Of Engagement Activity 2025
 
Description Abstract accepted - EDNSG conference - Amsterdam 2025 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Oral presentation accepted for May 2025 entitled 'Exploring accelerated biological ageing in diabetic kidney disease: Epigenetic clocks in the Northern Ireland COhort for the Longitudinal study of Ageing (NICOLA)'
Year(s) Of Engagement Activity 2025
 
Description Abstract accepted - EDNSG conference - Copenhagen 2024 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact I have been accepted to give an oral presentation at the European Diabetic Nephropathy Study Group conference in Copenhagen in May 2024.
Objective
Epigenetic clocks reflect accelerated biological ageing, potentially revealing the impact of environmental exposures during the lifecourse. We explored accelerated ageing in the context of diabetic kidney disease (DKD) to highlight novel pathways of pathology, advance our understanding of how our environmental impacts kidney function, and uncover ageing feedback loops.
Design
Harnessing blood-derived DNA methylation measures, determined via Illumina EPIC array (measuring ~800,000 CpG sites), we generated epigenetic clock measures, adjusted for age, sex, and white cell counts (CD8T, CD4T, Natural killer, B-cell, Monocytes, Granulocytes).
Setting
This study investigated patients with type 1 diabetic kidney disease (T1-DKD), alongside control individuals with T1 diabetes and no evidence of kidney disease.
Patients
Individuals were included from the All Ireland-Warren 3-Genetics of Kidneys in Diabetes UK Collection (UK-ROI) and the Belfast Renal Transplant collection (white European ancestry)1. Case individuals (N=224, mean age=42.2, 48.2% female) had =10 years T1D duration and DKD defined as persistent macroalbuminuria (=500mg/ 24 hr), eGFR <60 mL/min/1.73m2 (CKD-EPI), retinopathy, and hypertension (systolic/diastolic blood pressure =135/85mmHg). Control individuals (N=240, mean age=41.2, 48.7% female) had =15 years T1D duration and no evidence of kidney disease on repeat testing (normal urinary albumin excretion and eGFR >60 mL/ min/1.73m2). Control individuals had normal blood pressure and were not taking any anti-hypertensive medication. Case-controls were matched for sex, ethnicity, diabetes duration to within 5 years, and age to within 10 years. Post quality-control N numbers are presented.
Main Outcome Measurements
(±PC)PhenoAge, PCGrimAge, (±PC)DNAmTL, (±PC)Horvath1, and (±PC)Hammum clocks were generated using methylCIPHER2-7. DunedinPACE was generated using Biolearn8,9. ±PC represents the inclusion of principal component adjustment. Associations were determined using a generalised linear model (Binomial logit) in R version 4.3.0. The significance cut-off was set to 0.005 (to account for 10 clock-based tests).
Results and Conclusions
Of note, the PCDNAmTL (OR:0.031(0.006-0.148), p=2.06x10-5) clock was significantly associated with decreased DKD risk. PCPhenoAge (OR:1.07(1.03-1.12), p=0.001), as well as PhenoAge (OR:1.08(1.04-1.12), p=7.71x10-5), were significantly associated with increased DKD risk. No other clock was significantly associated with DKD. DNAmTL predicts telomere length3, suggesting accelerated telomere shortening may be observed in DKD, supporting our previous study measuring telomere length in the UK-ROI collection. The PhenoAge clock is based on phenotypic ageing measures for liver, kidney (creatinine), inflammation, the immune system, and metabolism (serum glucose), and was previously associated with cancer, Alzheimer's6 and reduced kidney function (chronic kidney disease sample, adjusted for diabetes)11. This work highlights links between DKD and features of biological ageing, potentially highlighting their downstream usefulness to stratify individuals based on DKD risk.
Year(s) Of Engagement Activity 2024
 
Description Annual general meeting - Northern Ireland Kidney Patients Association 
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 Talk about the translation of research into improved services for patients and families
Year(s) Of Engagement Activity 2023
 
Description Annual general meeting - Northern Ireland Kidney Patients Association 
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 Talk about the translation of research into improved services for patients and families
Year(s) Of Engagement Activity 2024
 
Description Famelab Northern Ireland Final - Runner up 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Dr Claire Hill summarised this research in 3 minutes to a general public audience. Around 70 people attended this Northern Ireland Science Festival event. Claire was awarded Runner up and many audience members were engaged with her work and commented on how clearly she communicated this complex topic. A kidney patient commented to Claire after how much she valued her talk and was excited about the research that was going on in this research field.
Year(s) Of Engagement Activity 2024
 
Description How kidneys work and how to cope when they don't? 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact Illustrated talk to ~80 persons as part of the World About Us series in Knock Methodist Centre, Belfast. Audience participation in some of the explanations of how kidneys work. Several individuals in the audience were kidney transplant recipients and one individual was receiving dialysis. Many had family members or friends affected by kidney disease.
Year(s) Of Engagement Activity 2025
URL https://mcusercontent.com/c6721ca9e3acaa25d24494e14/files/255d358c-8fe0-0c43-1b2f-96a53fbba654/The_W...
 
Description Invited member at KRUK-DUK-JDRF hosted Diabetic Kidney Disease Workshop 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Third sector organisations
Results and Impact This was an event hosted by Diabetes UK, Kidney Research UK, and the JDRF with invited clinical, academic, and experts by experience exploring evidence gaps and research needs for diabetic kidney disease. A workshop report is planned to highlight a shared consensus of evidence gaps and to stimulate research investment and activity.
Year(s) Of Engagement Activity 2024
URL https://www.kidneyresearchuk.org/kidney-disease-and-diabetes-workshop/
 
Description Kidney Canvas - NI Science Festival Public Engagement 
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 Public/other audiences
Results and Impact We hosted an afternoon of hot desking, where experts and talented artists from the QUB Renal Arts Group guide visitors through hands-on art interventions that are used to support and uplift kidney patients undergoing dialysis. Visitors heard insights from local and regional kidney disease charities (Northern Ireland Kidney Research Fund, Kidney Care UK, Northern Ireland Kidney Patients Association), showcasing the incredible work they do to transform the lives of patients and their families. Attendees stepped into our mini-lab, building their own candy DNA and learning about kidney filtration using household items, alongside QUB scientists from the Molecular Epidemiology and Public Health group. Visitors discovered how this ground-breaking research is revolutionizing therapies and interventions for kidney disease. A special musical performance from the QUB Renal Arts Group band, Ragbone build a blend of art, science, music, fun and community, leaving visitors inspired and informed.
Year(s) Of Engagement Activity 2024
URL https://nisciencefestival.com/events/kidney-canvas-hot-desk-your-way-around-the-science-and-art-of-k...
 
Description Kidney Canvas - NI Science Festival Public Engagement 
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 Public/other audiences
Results and Impact We hosted an afternoon of hot desking, where experts and talented artists from the QUB Renal Arts Group guide visitors through hands-on art interventions that are used to support and uplift kidney patients undergoing dialysis. Visitors heard insights from local and regional kidney disease charities (Northern Ireland Kidney Research Fund, Kidney Care UK, Northern Ireland Kidney Patients Association), showcasing the incredible work they do to transform the lives of patients and their families.
Attendees stepped into our mini-lab, building their own candy DNA and learning about kidney filtration using household items, alongside QUB scientists from the Molecular Epidemiology and Public Health group. Visitors discovered how this ground-breaking research is revolutionizing therapies and interventions for kidney disease.

A special musical performance from the QUB Renal Arts Group band, Ragbone build a blend of art, science, music, fun and community, leaving visitors inspired and informed.
Year(s) Of Engagement Activity 2024
URL https://nisciencefestival.com/events/kidney-canvas-hot-desk-your-way-around-the-science-and-art-of-k...
 
Description Northern Ireland Kidney Research Fund Queen's Foundation Partnership Launch 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact This was the official launch of the Northern Ireland Kidney Research Fund partnership with the Queen's Foundation following a generous donation of £600000.
Year(s) Of Engagement Activity 2024
URL https://nikidneyresearch.org/news/major-kidney-research-disease-charity-donates-600k-gift-for-medica...
 
Description Transplantation Tales: An Educational Workshop in Kidney Care and Research - NI Science Festival 
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 As a genetic and molecular epidemiologist, I had the opportunity to share my insights into the fundamental mechanisms of kidney disease at an event hosted by the Renal Arts Group within the School of Nursing & Midwifery at Queen's University Belfast. Key Stage 4 and 5 students were invited to participate in an interactive workshop where they collaborated as part of a transplantation team to create storyboards for an animated, educational video series for patients with chronic kidney disease on the waiting list for a kidney transplant.

During the event, researchers, transplant coordinators, nephrologists, and transplant surgeons discussed the kidneys, kidney disease, and kidney transplantation, highlighting the crucial information that kidney transplant recipients need to know. I contributed by explaining the genetic and molecular aspects of kidney disease, helping students understand the underlying mechanisms. The students then took on various roles within their transplantation education teams, applying the knowledge they gained to their projects.
Year(s) Of Engagement Activity 2025
 
Description Transplantation Tales: An Educational Workshop in Kidney Care and Research - NI Science Festival 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Dr Claire Hill presented at the Transplantation Tales workshop as part of NI Science Festival. This event was hosted by the Renal Arts Group within the School of Nursing & Midwifery at Queen's University Belfast. Key Stage 4 and 5 students were invited to participate in an interactive workshop where they collaborated as part of a transplantation team to create storyboards for an animated, educational video series for patients with chronic kidney disease on the waitlist for a kidney transplant. Researchers, transplant coordinators, nephrologists, and transplant surgeons talked about the kidneys, kidney disease, and kidney transplantation, and what information is important for kidney transplant recipients to know. Then, students took on one of these roles as part of their own transplantation education team.
Year(s) Of Engagement Activity 2024
URL https://nisciencefestival.com/schools-educators/transplantation-tales-an-educational-workshop-in-kid...