England Rare Diseases Action Plan 2022

Decisions on newborn screening

Alex TLC are part of the Newborn Screening Collaborative calling for revisions to the National Screening Committee processes which will help in our campaign to add ALD to the UK newborn screening programme. It is wonderful to see that there are specific measures in the Rare Disease Action Plan published towards this

Action 1: improving how decisions are made on newborn screening for rare diseases
In the year ahead this will be actioned through:

• a new UK NSC with a broader remit, revised terms of reference, and greater collaboration with researchers and stakeholders, including those with an interest in rare disease

• establishing a UK NSC Bloodspot Task Group to identify practical and innovative approaches to facilitate research and evidence which will inform evaluations of blood spot screening

To read the full Action Plan: England Rare Diseases Action Plan 2022

Alex - The Leukodystrophy Charity