At HRCI, we believe that there is a need to maximise the impact health research has on patients, families, carers, and on society as a whole. By research impact we mean research that has made a positive difference to people’s lives. This means going beyond academic publications to celebrate knowledge generated by research that has a resulted in a change of policy, practice, or in the provision of information that has changed lives. We look for a story of impact unfolding over time, from the initial funding of a research project, to learning new things from the research, to the outcomes of the research being used for societal benefit.
The HRCI-HRB Joint Funding Scheme has huge potential to maximise the societal benefit of health research. Health charities fund research in partnership with the Health Research Board (HRB) with the sole purpose of making a difference to the communities they represent. To date, 153 awards have been made under the Joint Funding Scheme, representing a total investment of €25 million across 27 charities. We recognised the successful impact of the scheme through our inaugural Research Impact Award, presented to Professor Sally Ann Lynch for her ground-breaking work in identifying and diagnosing rare genetic conditions. You can find media coverage of Sally Ann’s award here. We present below case studies that demonstrate the important and enduring impact of research funded under the Joint Funding Scheme.
Charity-funded Research Impact Stories
Ending the “diagnostic odyssey”: identifying and diagnosing rare genetic conditions
Through her clinical role as a Consultant Geneticist, Professor Sally Ann Lynch knew that there were many families who had two or more children with a genetic condition in whom a diagnosis had not been reached despite testing. No diagnosis means that families are left with many questions about the future; how the condition would unfold over time, family planning, risks to other relatives, and so on. In addition, reaching a diagnosis means families can make links with disease specific support groups and reduce the sense of isolation that many experience. Through a number of research projects, Sally Ann and her team aimed to end the so-called “diagnostic odyssey” by using a newly developed technique in genetics called “exome sequencing”, which involves analysing the code of all of a person’s genes.
“Exome sequencing” allowed Sally Ann and her team to diagnose rare diseases in 11 families (27 patients). For example, they identified four different genes for a condition called ciliary dyskinesis. This condition affects the hairs in the lungs, nose and ears, resulting in a build-up of mucus, causing inflammation and infection. Other genes were also identified for a range of conditions and clinical presentations. Together, identifying the underlying genetic causes of these conditions has meant many things to the affected families, including:
- One family with rare heart and eye symptoms has been able to attend a specialist clinic in the UK.
- It has been possible to provide early diagnosis for a number of genetic conditions. One child with a rare condition was only diagnosed at age six, but, thanks to the research, their younger sibling was diagnosed at the age of just three months.
- Heart arrythmias were identified as being linked to a gene in one family, which meant they then received prompt cardiac screening.
- In some cases it was possible to offer pre-natal testing or to assess whether potential parents were “carriers” for a genetic condition.
The outcomes from these projects have also had significant impact in wider ways. For example, Sally Ann and her team have:
- Developed a handbook for primary care providers, with guidelines on genetic testing and risk assessment of rare diseases. It has been sent to many Irish GPs and is also being shared on a European Educational website, called “Eurogems”
- Produced 11 short, animated videos on different aspects of genetics for patients and their families, as well as healthcare professionals. These have been widely disseminated and collectively they have received over 1.75 million views on YouTube. One has been used by the American College of Pediatrics.
- Produced a leaflet for a British support group on chromosomal inversions (when a piece of a chromosome, where the DNA is packaged, breaks off, turns around and re-inserts itself).
Titles of projects:
- Project 1. MRCG/2011/17 Identifying recessive genes for primary ciliary dyskinesia, microcephaly, cardiomyopathy with retinopathy 2012-2014
- Allied project: Knowledge exchange & dissemination scheme for ‘Identifying recessive genes for primary ciliary dyskinesia, microcephaly, & cardiomyopathy with retinopathy’
- Project 2 MRCG/2013/02 Identification of the genetic causes of developmental delay with mitochondrial dysfunction in the Irish Traveller population 2015-2017
Project time frames: 2012 – 2017
Lead researcher: Professor Sally Ann Lynch, Consultant Geneticist, CHI @ Temple Street & Crumlin. Clinical Professor, School of Medicine, University College Dublin.
HRCI Charity Funder: National Children’s Research Centre/Temple Street Foundation
Photosensitizers: The potential of using light to kill “superbugs”
Through her role as a researcher in the Department of Clinical Microbiology at RCSI University of Medicine and Health Sciences, Dr Deirdre Fitzgerald Hughes was aware of the need to identify new and better treatments for diabetic foot infections (DFI). The current treatments are difficult for patients and health care professionals to manage. People with diabetes and foot complications often have long hospital stays, because of infections by antibiotic-resistant bacteria (“superbugs”). Deirdre and her team, along with colleague Dr Mary Pryce at Dublin City University’s School of Chemical Sciences, developed a new treatment using “photosensitizers” that, when exposed to light, kill the “superbugs” in a completely different way to antibiotics. This could mean that in the future, people with diabetes may be able to manage their infection better at home. As a result of this research, the team discovered some photosensitizers that were extremely good at killing “superbugs”. Photosensitizers are already used in other areas of medicine, like treatment of some skin cancers. With further development, photosensitizers that kill “superbugs” by being exposed to light could become an effective and safe way to treat many other infections without the bugs developing resistance against them.
The successful funding of the research provided a platform for raising the awareness of patients and the public about the impact of DFI on those with diabetes and foot complications. It also helped Deirdre to raise awareness of the dangers of “superbugs”. She featured in videos on these topics, and presented at public events for people with diabetes. She presented the recommendations of a White Paper on Type II Diabetes to the Oireachtas Cross-Party Group on Diabetes in 2022. Since the completion of the project, Deirdre and her research team successfully obtained almost €900,000 in investment from Irish and UK agencies. This meant that three early career researchers and six doctoral students could join the team. As these people develop their careers, they will help to address global health problems that affect us all.
As an added benefit, Deirdre found that obtaining funding from the Diabetes Ireland Research Alliance and the Health Research Board, through the HRCI-HRB Joint Funding Scheme, helped her overcome her concerns about patient and public involvement (PPI) in research and to “simply have conversations with patients”. These conversations made her realise that people were really interested in what happens to their biological samples in the lab and why it takes so long to get a result in lab-based investigations. This inspired Deirdre to work with a medical student to get funding, under the university’s student partnership programme, for a video project involving a person affected by the condition, their care team, and medical scientists. Together, they produced a virtual tour called ‘From Patient to Pathogen ID’, that she plans to promote widely and make available as a teaching resource for students and health care professionals.
Title of project: Towards novel anti-infectives with enhanced wound-healing for diabetic foot infections: CO-releasing star-shaped microbicidal polymers
Project time-frame: 2019 – 2021
Lead researcher: Dr Deirdre Fitzgerald-Hughes, Senior Lecturer in Clinical Microbiology at RCSI University of Medicine and Health Sciences
HRCI charity funder: Diabetes Ireland Research Alliance (in partnership with the Health Research Board, through the HRCI-HRB Joint Funding Scheme)
Understanding TB in prison populations and improving TB policy and practice in Ireland
Through his work as a Consultant Respiratory Physician with the Tuberculosis (TB) service in St James’s Hospital, Professor Joseph Keane already knew that Ireland lacks a TB programme, had no clinical lead for TB, and has inadequate TB surveillance in group settings such as prisons. The research funded under the HRCI-HRB Joint Funding Scheme sought to address this gap (in addition to studying TB in smokers) by:
- Investigating the largest European prison TB outbreak in an Irish prison, using genetic analysis.
- Embarking on a laboratory study to define how the immune system can become vulnerable and fail to protect against TB, in high-risk persons (like prisoners).
Collaborating with public health officials and the Irish Mycobacteria Reference Laboratory (IMRL), Joseph and his research group investigated 34 prison-linked cases of TB. The team were able to determine that this TB outbreak involved prisoners, prison officers and the wider community. They found that the rate of latent TB infection (that shows no symptoms) in prison officers was more than 50%. The research team also found that one prisoner had multiple-drug-resistant TB disease. This led to action preventing a second, potentially dangerous, outbreak. A supporting lab study found that white blood cells (part of the body’s immune system) in the lungs do not work properly in smokers (particularly prevalent in prison populations).
This research study represents a story of ongoing impact unfolding over time. In prisons, the research has led to the start of a programme of peer education of 400 prisoners, led by the Red Cross, and the Irish Prisons Service. Blood testing for latent TB infection has also begun and will be followed up by x-ray screening of persons positive for latent TB, treatment of people with latent TB, and steps to prevent future TB disease. The results of this pilot programme will inform the roll-out of TB care across Irish prisons.
Based on the findings of the research, Joseph co-led a campaign to change policy and practice in TB care, based on the evidence that they had produced. This resulted in the appointment of a full-time national TB lead/controller who will lead a national TB service and prison TB care. These developments were highlighted in a press release and in the media. All of this means that a particularly susceptible population: prisoners, prison officers and their families, will benefit from a reduced risk of TB and better control of TB in the future.
Titles of project:
Towards host-directed therapies to overcome immune impairment in cigarette smokers during mycobacterial infection; incorporating public health impact aims.
Project time frames: 2016-2018
Lead researcher: Professor Joseph Keane, Consultant Respiratory Physician, St James’s Hospital. Professor of Medicine, Trinity College Dublin.
HRCI Charity Funder: Irish Thoracic Society.
Alzheimer’s Society of Ireland, Diabetes Ireland, the Irish Cancer Society, and the Irish Heart Foundation
Smoking, alcohol consumption, and physical inactivity can contribute to ill health, including cancer, heart disease, diabetes, and dementias such as Alzheimer’s disease. Unfortunately, these behaviours often begin in adolescent are more common in communities with a lower socio-economic status.
In 2016, a team of researchers, led by Professor David Hevey of Trinity College Dublin, wanted to reduce these negative health behaviours at their source; during adolescence. The team were awarded a grant under the HCRI/HRB Joint Funding Scheme to examine the feasibility and effectiveness of peer-led health behaviour change intervention among at-risk adolescents. The project aimed to have a positive impact on smoking rates, alcohol consumptions, and physical activity in young people.
The research team trained 16 young adults to deliver the intervention using a counselling technique called motivational interviewing. These young adults then worked with their peers to encourage positive health behaviours (for example, exercise) and discourage negative health behaviours (such as smoking).
In total, the young adults delivered the intervention to 64 of their peers, finding that their peers were significantly more likely to increase their exercise, and to decrease their smoking and alcohol consumption behaviours.
Professor Hevey’s team was able to demonstrate the young adults were confident and capable in delivering peer-led interventions and that this intervention was effective in improving health behaviours among young people.