Identifying patients and families at risk of inherited high cholesterol

    Impact: Health Impact

    • Shirley Heggarty (Participant)
    • Colin Graham (Participant)
    • Wyatt Wright (Participant)
    • Young, Ian (Participant)
    • Patricia M Hart (Participant)
    • Maurice O'Kane (Participant)
    • Paul Nicholls (Participant)
    • Norman Nevin (Participant)

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    Narrative

    A routine service for genetic diagnosis of familial hypercholesterolaemia (FH) was developed and commissioned by the Northern Ireland Department of Health, based on the identification by the Queen’s team of a series of mutations causing this condition. The team then developed novel diagnostic strategies that led to over 900 affected individuals being identified so that treatment could be delivered to them. Samples are received for diagnosis from the UK and Ireland and the work of the Centre helped to inform recent NICE guidance.
    The laboratory is recognised as an expert laboratory for the diagnosis of inherited lipid disorders by the International Federation for Clinical Chemistry and Laboratory Medicine.

    Category of impact

    • Health Impact

    ID: 12980064