AJ McKnight
Professor of Molecular Epidemiology and Public Health, Director of Postgraduate Research, Queen’s University Belfast. Co-Lead of RAiN and the LifeArc Centre for the Acceleration of Rare Disease Trials
People affected by rare diseases have many unmet health and social care needs. High-quality research is required to improve diagnosis, treatment and support for patients, families and caregivers.
Supporting children and young people
Raising Awareness of Rare Disease Throughout All Communities (RARDTAC) and the All Ireland Rare Disease Interdisciplinary Research Network (RAiN; Rare Disease All-Ireland Interdisciplinary Research Network) continue to thrive with regular ‘cup o’collaboration’ meetings, hosting webinars, an early career researcher forum and the launch of Children and Young Person’s Research Advisory Group (RAiN CRAG) for rare diseases. This All-Ireland CRAG brings together charities, advocates, research and clinical experts, driving research, improving outcomes and empowering children and young people living with rare diseases to influence positive change.
Empowering rare disease carers
Carers supporting people living with rare diseases describe themselves as medical navigators, advocates, peer supporters, travel agents (navigating to different medical centres that may be overseas) and researchers. They are often exhausted, caring 365 days of the year with no respite and describe having no time for themselves. We are co-developing an online support tool (caringwithrare.org) that complements our developing Northern Ireland rare disease information hub (rarediseaseni.info).
All of our rare disease research is delivered
collaboratively; this is a testament to the
power of connection driving change.
Speeding up clinical trials
Our recently funded LifeArc Centre for the Acceleration of Rare Disease Trials (co-led by Prof McKnight at QUB and Prof Tim Barrett at University of Birmingham, with Profs Dave Jones and Volker Straub at Newcastle University) offers a new approach to help people participate in clinical trials. It aims to speed up delivery using a ‘one-stop’ approach, with clinical trials delivered in partnership with patients and their families and supporting approval of rare disease medicines.
Strength with charity partners
Collaboration is at the heart of everything we do. We are delighted to establish several PhD studentships this year — working with charity partners, including the Northern Ireland Kidney Research Fund and the Fragile X Society, improving diagnosis and treatment of rare conditions. We continue to work closely with the Northern Ireland rare disease partnership. All of our rare disease research is delivered collaboratively; this is a testament to the power of connection driving change.
