Researchers have developed an integrated, high-throughput system to better understand and possibly manipulate gene expression to treat diseases such as sickle cell disease and beta thalassemia. These high-throughput technologies allow researchers to analyze the expression of a large group of genes under identical conditions and much faster than previously thought. The research appears in the journal Nature Genetics.
Researchers used the system to rapidly identify dozens of DNA regulatory elements that are involved in the regulation of gene expression and rely on the biochemical interactions involving DNA. These regulatory elements act together to orchestrate the switch from fetal to adult hemoglobin expression. The method can also be used to study other diseases that involve gene regulation. Using this approach, the scientists validated the few known regulatory elements of fetal hemoglobin expression and identified many new ones. The study was partly-funded by NHLBI.