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Sickle Cell Disease: Tipping the Balance of Genomic Research to Catalyse Discoveries in Africa
source: The Lancet
year: 2017
authors: Julie Makani, Solomon F Ofori-Acquah, Furahini Tluway, Nicola Mulder, Ambroise Wonkam
summary/abstract:The completion of the Human Genome Project and the use of CRISPR/Cas9 for gene editing have begun to transform the diagnosis and management of the disease. Sickle cell disease has been considered a perfect model for genomic research because it is a monogenic disease that is common and causes substantial morbidity and mortality but has no cure. The recent use of gene editing to modify disease severity and a case report of a patient with sickle cell disease who received successful treatment with gene therapy highlights the potential for translating genome-based knowledge into health benefits.
But will these advances benefit patients in Africa where the burden is high? Sub-Saharan Africa has an estimated 64% of the 300 000 people born annually with sickle cell disease in the world, mortality is high, and few effective interventions have been introduced. World Sickle Cell Day on June 19, 2017, provides an opportunity to examine progress and persistent challenges in Africa.
organization: Muhimbili University of Health and Allied Sciences, Tanzania; University of Pittsburgh, USA; University of Ghana, Ghana; University of Cape Town, South AfricaDOI: 10.1016/S0140-6736(17)31615-X
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