This part-time (40%), one year post involves working with a multi-disciplinary, multi-centre team to help evaluate and improve rare disease services in Northern Ireland. The primary objectives are to explore the role of relevant registries and perform a rapid scoping review of educational information provided within Northern Ireland and wider afield. The European Union (EU) definition of a rare disease is one that affects less than 5 per 10,000 people, with -30 million persons directly affected in the EU and -106,000 affected in Northern Ireland. These diseases are individually rare, but collectively common and represent a significant public health concern. This project builds on rare disease progress within Northern Ireland, as well as technological advances for faster, more accurate genetic diagnosis through whole genome (next-generation) sequencing. The project may involve working with healthcare practitioners, patients, families, advocacy groups, and the Northern Ireland Genomic Medicine Centre team to identify strategic priorities for modernising and delivering local rare disease services. This project is topical, timely and offers significant scope for the successful applicant to input to how individuals living and working with rare diseases are impacted and supported. The post may involve liaising with international collaborators, collating existing data, conducting surveys, focus groups and interviews, coordinating workshops, bioinformatic analysis of data, integrating datasets, preparing regular summary reports, and taking the lead writing academic outputs and research dessemination.
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