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The future of sickle cell disease therapeutics rests in genomics

1 Feb 2023

Abstract excerpt

Sickle cell disease (SCD) is the most-common monogenic recessive disease in humans, annually affecting almost 300,000 newborns worldwide, 75% of whom live in Africa. Genomics research can accelerate the development of curative therapies for SCD in three ways. First, research should explore the missing heritability of foetal haemoglobin (HbF) - the strongest known modifier of SCD clinical expression - among highly...

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PMID: 36815490
DOI: 10.1242/dmm.049765

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