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Guidelines and reports

Intelligence report - Rare diseases research landscape in Wales

To better understand the position of the UK in rare diseases research, the National Institute for Health and Care Research (NIHR) published the Rare Diseases Research Landscape Project Report (RDRL) in September 2023. The report aimed to map the rare disease research landscape, identifying gaps and priorities for future funding.

EDI and ID Guideline

Guideline for the Investigation of Moderate / Severe Early Developmental Impairment and Intellectual Disability