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Local rare disease research news

We hope you enjoy reading about some of the latest findings from local rare disease research. We have an active, dynamic research group and look forward to helping make things better for individuals living and working with rare diseases...and we enjoy helping to solve puzzles.

Voices from rare disease groups across NI

10 November, 2020

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

Evaluating the impact of COVID-19 on rare disease support groups

PLEASE have your experiences counted! | 10 July, 2020

We are evaluating the impact of COVID-19 on groups who are supporting people with rare diseases during the COVID-19 pandemic. There will be a £50 Amazon voucher provided to a single entry drawn at random from eligible participants.

Voices from rare disease carers across NI

Hear from rare disease carers | 11 July, 2020

Carer reported experiences: supporting someone with a rare disease

Shielding with a rare disease

During the 2020 COVID-19 pandemic | 3 July, 2020

Summarising 698 responses around shielding from people across NI living with a rare disease.

Voices from rare disease groups across NI

25 May, 2020

Good communication is critical to supporting people living and working with a rare disease: current rare disease support perceived as inadequate

Delighted our 'Mitochondrial toolbox' review has been published by Frontiers in Genetics

A Mitochondrial toolbox! | 7 May, 2020

This review provides a summary evaluation of online resources to explore mitochondrial genomics.

Rare Disease Toolkit: helping to support rare disease management in general practice

A quick reference guide for rare disease | 1 May, 2020

A rare disease often has complicated, severe medical needs. GPs have considerable expertise managing long-term complex diseases, but few have resources to research the > 8,000 rare diseases that are recorded.

New research and proposed workflow for effective rare disease multi-omics research

A new approach for multiomics | 30 April, 2020

'Multi-omics' is a relatively new approach being used to help diagnose and understand rare diseases. We're delighted our PhD student, Katie Kerr, has a scoping review and proposed workflow for effective multi-omic rare disease research published

Maximising rare disease research

QUB's ESRC Impact Acceleration Account | 28 April, 2020

Rare diseases affect approximately 6% of our population and represent a significant public health concern. We are delighted to be awarded funding under this scheme to help develop our rare disease research

IMPaCCt Study - investigating the impact of COVID-19 on caregivers and patients

Read about IMPaCCT | 24 April, 2020

Caregivers and patients are describing a major impact of COVID-19 on their lives. Help us to identify the impact that this pandemic has had and continues to have on patients and their carers, with a focus on cancer and rare diseases.

Towards Accelerating the Detection of Disease (ADD)

1 February, 2020

A protocol has been developed with UK-wide input for the development of the ADD platform.

Supporting people living and working with rare diseases across NI

31 January, 2020

Our 2020 communication and information report highlights ten priority recommendations for rare diseases across Northern Ireland.

Scoping rare disease education and training needs for NI

31 January, 2020

A rapid scoping review of rare disease education needs for Northern Ireland: 2020 update to our 2018 report.

Moving towards NIRADCAR? A Northern Ireland RAre Diseases & Congenital Abnormalities Registry

31 January, 2020

Rare disease research consistently highlights a need for a local rare disease registry. Our 2020 report, 'Perspectives on a NI Rare Disease Registry' provides an update on the background, evidence, and potential for a local registry.

Supporting carers helping people with rare diseases across NI

31 January, 2020

Our research demonstrates carers often feel isolated and struggle to manage 'on their own'. This leaflet summarises relevant contact details where carers can gain local support.

Westminster conference: Rare diseases and specialised commissioning, January 2020

Rare Disease Westminster conference | 9 January, 2020

Workshop informing a policy briefing document for rare diseases and specialised commissioning with a focus on genomics, research and access to medicine

New RARDTAC meetings - come join us

Save the Date for rare disease events | 9 December, 2019

Thanks to generous support from Ards and North Down Council, we are hosting two events with NIRDP: (1) 9th December 2019 in Newtownards - Ards Blair Mayne Wellbeing and Leisure Complex & (2) 16th January 2020 in Bangor Carnegie Library.

blue eye

New review highlights cutting edge analysis with important implications for rare eye diseases

Understanding epigenomics and eyes | 13 November, 2019

Epigenomics provides a biological link between our inherited DNA sequence and our environment. An example of this is the phenomenon of 'DNA methylation', which could help us diagnose and treat rare eye diseases to minimise visual degeneration.

Carers - Have Your Say [This survey is now closed]

Please help us gather evidence... | 7 November, 2019

Our latest project is now up and running seeking input to gain wide-ranging views that provide an insight into the life of a carer for an individual(s) with a rare disease(s). Please do work with us to gather evidence to support local carers.

RARDTAC: Raising Awareness of Rare Diseases Throughout All Communities

8 May, 2019

We are delighted to share the news that we have received local council funding (THANK YOU community development funding team, Ards and North Down Borough Council) for a series of events under our RARDTAC banner.

New research confirms major gaps for rare disease multi-omics research

5 May, 2019

'Multi-omics' is a relatively new approach being used to help diagnose and understand rare diseases. Our PhD student, Katie Kerr, has a new protocol published describing a comprehensive review of multi-omics literature for rare diseases.

Making life better: improving health and care for individuals with rare diseases

10 June, 2015

It was a pleasure to present some of our collaborative research at the Northern Ireland Public Health Conference 2015