NI Rare Diseases Implementation Plan: work in progress!

At last, work is underway on all four of the Priority Actions in the NI Rare Diseases Implementation Plan:

  • The NI Genomic Medicine Centre is now established; staff are being recruited; and protocols for evaluation of the outcomes are being developed with NIRDP input;
  • Over the past month, NIRDP has  held well attended Communications and Information Review Workshops across Northern Ireland.  Thank you, to all those who came along and contributed so powerfully; and a special “Thank You” for their time and support to our speakers, Dr Fiona Stewart, Dr Vivienne McConnell, Dr Deidre Donnelly, and Dr Gillian Rea from the Regional Medical Genetics Service, to Ryan Wilson from the Department of Health, and to our Facilitator, Grace Henry.

The views and ideas from the Workshops are now being analysed; and will be added to the information from the Online Survey- which is still open.  So please go to the Survey, and make your voice count! The emerging findings will be considered in a Focus Workshop on 7 June: Register your interest in attending this event here

Work is now also starting on:

  • Scoping for a Rare Diseases Registry for Northern Ireland, looking at how to establish a Registry, including the need for information on congenital abnormalities, and for links to existing and developing information systems (such as the new English system, NCARDRS), whether in the UK, Ireland, or internationally; and
  • A Training Needs Analysis for doctors and other clinicians in rare diseases building on the existing presentations, delivered in part by NIRDP Members,  in year 1 and year 5 of the medical training course.

This work programme is being overseen by the Rare Diseases Implementation Plan Steering Group, led by Professor Ian Young,  Chief Scientific Adviser to the Department of Health.  The aim is to have a Report by Christmas; an “action research model” is being used, so wherever possible learning can be translated into practice without delay.

 

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