The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Sickle cell disease (SCD) is an umbrella term for a group of life‐long debilitating autosomal
recessive disorders that are caused by a single‐point mutation (Glu→ Val) that results in …

Two decades after the completion of the Human Genome Project (HGP), there is still much to
do to ensure that genomics works for the global public good. The focus on populations from …

Resistance afforded by the sickle-cell trait against severe malaria has led to high
frequencies of the sickle-cell mutation [HBB; c. 20T> A, p. Glu6Val; OMIM: 141900 (HBB-βS)] …

Sickle cell disease can be life-threatening or chronically debilitating for both children and
adults. Worldwide, more than 300 000 children are born with sickle cell disease every year …

To embrace the prospects of accurately diagnosing thousands of monogenic conditions,
predicting disease risks for complex traits or diseases, tailoring treatment to individuals' …

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 …

Sickle cell disease is caused by an inherited single nucleotide substitution in both copies of
the β globin gene (HBB; Glu7Val). The sickle-cell mutation results in the production of …

HIV infection continues to be a major global public health issue. The population
heterogeneity in susceptibility or resistance to HIV-1 and progression upon infection is …

Effectively addressing ethical issues in precision medicine research in Africa requires a
holistic social contract that integrates biomedical knowledge with local cultural values and …