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.
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
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.
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.
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.