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HBKU part of global study on rare inherited cholesterol disorder

HBKU part of global study on rare inherited cholesterol disorder

Gulf Times
Tuesday, March 08, 2022 09:58:11 AM UTC

A faculty member at Hamad Bin Khalifa University’s CHLS recently took part in a global clinical collaboration to study a life-threatening blood cholesterol disease, homozygous familial hypercholesterolaemia (HoFH).

A faculty member at Hamad Bin Khalifa University’s College of Health and Life Sciences (CHLS) recently took part in a global clinical collaboration to study a life-threatening blood cholesterol disease, homozygous familial hypercholesterolaemia (HoFH). The study has now been published in The Lancet - one of the highest impact medical journals globally.

Dr Georges Nemer, Professor of Genomics and Precision Medicine and Interim Dean of CHLS, was an international clinical collaborator in the retrospective cohort study on the worldwide experience of HoFH. The rare inherited disorder results in extremely high levels of low-density lipoprotein cholesterol levels that cause premature atherosclerotic cardiovascular disease (ASCVD). 

The study constituted the largest international cohort of HoFH patients to date, with 751 patients from 38 countries. Data was collected by the HoFH International Clinical Collaborators registry, the first and only such global registry initiated by physicians caring for HoFH patients in diverse healthcare settings.

The objective was to assess the clinical and genetic characteristics, as well as the impact, of current practice on the health outcomes of HoFH patients globally. Current guidance about management and prognosis stems from small studies, mostly from high-income countries.

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