The first ever UK guidelines for childhood IgA Vasculitis, complete with rare disease methodology

We are reaching out to find parents of children who have been diagnosed with (or are awaiting diagnosis of) a rare condition having had concerns raised during the ultrasound/s of that pregnancy. Please help others by sharing your experiences!

The Participant Panel at Genomics England is seeking a new Chair and members

Exciting news! Significant investment will drive progress for rare disease research

The power of partnership and collaboration...

Exciting news! Launch of new survey to better understand experiences of research

On Monday 13 February, Prof McKnight (Queen’s University Belfast) and Dr Suja Somanadhan (University College Dublin), along with 33 partners, launched the All-Ireland Rare Disease Interdisciplinary Research Network (RAiN).

This action plan sets out 14 key Actions for development during 2022/23.  Many of these actions have been driven and / or informed by multidisciplinary research conducted directly in partnership with local rare disease communities.

Delighted to see the need for collaboration between HSC organisations, across sectors and with patients, families and carers, as a key enabler to effect meaningful change. Accompanied by a published funding plan estimating costs of £778 million.

Very excited to see the commitment to establish an effective Genomics Partnership for Northern Ireland echoed in this document and the forthcoming NI Rare Disease Action Plan.

Updates from our NI Genomic Medicine Centre as part of developments from the NI Rare Disease Implementation Plan 2015-2020

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

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.

Carer reported experiences: supporting someone with a rare disease

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

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

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

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.

'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

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

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.

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

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

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

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.

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.

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

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.

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.

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.

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.

'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.

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