Home » Rare Diseases » Empowering rare disease communities and pioneers to strengthen research

Professor Amy Jayne McKnight (pictured above)

Professor of Molecular Epidemiology and Public Health; Director of Postgraduate Research; Rare Disease Research Lead; Co-Lead for RAiN, Centre for Public Health, Queen’s University Belfast

Rare diseases receive much less recognition and support than more common diseases, with patients and caregivers living with significant unmet health and social care needs.

Today, we are working towards better registration of rare diseases, using new genetic tests and artificial intelligence to improve diagnosis and care pathways, improving access to orphan drugs and developing new approaches to practically support patients and their families. 

Most of the rare disease research
conducted in Northern Ireland (NI)
is initiated and/or driven by families.

Supporting rare disease communities 

Most of the rare disease research conducted in Northern Ireland (NI) is initiated and/or driven by families. I’m delighted our Raising Awareness of Rare Diseases Throughout All Communities (RARDTAC) team have been able to support so many projects that bring direct positive impacts to patients and the healthcare teams who support them.

This RARDTAC team has won impressive awards for their endeavours, often going above and beyond to deliver improvements on a very limited budget. Examples include introducing new laboratory tests to accelerate rare disease diagnosis, developing clinical decision support tools and providing an evidence base to help change clinical care practices.  

However, there is still work to be done. Most actions in the NI rare disease plan 2022–23 were derived from our collaborative research, working in partnership with diverse stakeholders, including voices from people living with rare diseases at the forefront.  

Rare disease research network 

After many years in development, I am delighted to launch a funded cross-border research network with my colleague Dr Suja Somanadhan (University College Dublin), bringing hope to families living with rare disease(s) that collaborative efforts are raising awareness.  

This All-Ireland Rare Disease Interdisciplinary Research Network (RAiN) will strengthen effective links between researchers, industry, government, local authority, charity, patient and caregiver partners across Ireland.  

As Director of postgraduate research for the School of Medicine, Dentistry and Biomedical Sciences at QUB, I’m acutely aware we need to train the next generation of doctors, nurses, biomedical scientists and researchers to continue driving forward progress for people living and working with rare diseases across Ireland. 

Compelled by necessity, the rare disease community consists of pioneers developing creative and innovative health and social care transformations. 

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