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03 – Helping to identify a rare genetic disease in primary care

Graphic showing NIHR School for Primary Care Research case study headline about identifying a rare genetic disease in primary care, alongside an image of a glowing blue DNA strand.

Putting research into practice requires meticulous work at all stages, from first identifying issues in current practice to testing new interventions and eventually preparing for implementation. The work that the SPCR has funded has helped to deliver real-world improvements that are changing patients’ lives. One such example of this is the FAMCAT2 algorithm for identifying patients with the highest probability of having familial hypercholesterolaemia (FH), a genetic condition that causes high cholesterol levels from birth and premature heart disease. 

Read more of this case study

 

Links:

School for Primary Care Research Project No. 521

PI: Nadeem Qureshi

DOI:

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