Genetics and Genomics in Sickle Cell Disease in Africa - PubMed
3 hours ago
- #sickle-cell-disease
- #genomics
- #personalized-medicine
- Advanced genomic technologies are transforming the understanding of complex diseases like sickle cell disease (SCD).
- Large-scale population studies are essential for personalized treatments and better patient outcomes in SCD.
- SCD is a benchmark genetic disorder due to its unmet health burden and potential for genomic-based health improvements.
- Genomic research has identified key genetic and epigenetic variants (e.g., BCL11A, HBG, MYB) linked to fetal hemoglobin expression, a major SCD severity modifier.
- Other SCD modifiers include alpha- and beta-thalassemia variants and infectious disease markers like APOL1.
- Pharmacogenomics studies for hydroxyurea and other SCD therapies show promise for personalized medicine.
- Africa's high SCD prevalence, genetic diversity, and large patient cohorts make it crucial for genomic research and clinical trials.
- Findings could improve SCD biology understanding, treatment responses, and the discovery of new therapies.