$3M NIH Grant Supports DNA Sequencing of Children With SCD in Ghana
A team of international researchers has received a $3-million grant from the National Institutes of Health (NIH) to sequence the genome — the whole genetic code — of children with sickle cell disease (SCD) in Ghana.
The award was granted to the project’s principal investigator, Solomon Fiifi Ofori-Acquah, PhD, an associate professor of medicine and human genetics and the director of the Center for Translational and International Hematology at the University of Pittsburgh.
A globally renowned researcher in SCD, Ofori-Acquah is also the director of the West African Genetic Medicine Centre (WAGMC), in Ghana, and the dean of the University of Ghana’s School of Biomedical and Allied Health Sciences.
SCD can vary widely in terms of severity and associated complications, and increasing efforts are focused on the identification of genetic modifiers of the disease. Genetic modifiers are genes or genetic variants that can increase or reduce the severity of a condition without necessarily causing the disease themselves.
In addition, those influencing SCD severity and complications across different patient populations remain largely unknown.
By analyzing the whole DNA sequence of 500 Ghanaian children with SCD, the researchers hope to identify potential genetic modifiers of the disease that will help to improve management and care of patients.
The children are participants in the Sickle Cell Disease Genomics Network of Africa (SickleGenAfrica), a $5.4-million, NIH-funded international project also led by Ofori-Acquah and focused on understanding how genetics influence SCD progression in Africans.
In addition to sequencing studies, the new grant will support another project, titled “Therapeutics Targets of Acute Chest Syndrome,” whose goal is to better understand how specific changes in the HMOX1 gene are associated with protection against acute chest syndrome and whether they can be used to help develop specific treatments.
Acute chest syndrome, a leading cause of hospitalization and death in SCD patients, is characterized by chest pain, fever, and difficulty breathing. It is caused by reduced oxygen levels in the lungs due to blockage of their small blood vessels by sickled red blood cells, which characterize the disease.
The project will also involve other SickleGenAfrica investigators, including University of Ghana’s Yvonne Dei-Adomakoh, MD, Edeghonghon Olayemi, MD, Amma Benneh-Akwasi Kum, MD, and Cathy Segbefia, as well as Vivian Paintsil, MD, of the Komfo Anokye Teaching Hospital, in Ghana. Ryan Minster, PhD, of the University of Pittsburgh, will perform the bioinformatics analyses.
The sequencing work will be part of a bigger WAGMC initiative, called the Ghanaian Genome project, that aims to provide access and improve genetic medicine in the country.
As part of the project, WAGMC launched the first-of-its-kind master of science genetic counselling program in Sub-Saharan Africa and plans to provide free genetic screening for sickle cell conditions, breast and prostate cancers, and developmental delays in collaboration with multiple academic partners and traditional leaders across the country.