A biotechnology company in Uganda has developed a new ‘universal’ gene therapy for sickle cell disease, offering hope to millions of patients worldwide by making treatment more accessible and affordable.
Gene therapy is a medical treatment that works by changing or fixing a person’s genes to treat or prevent disease. Genes are the instructions inside our cells that tell the body how to work, and sometimes a disease happens because a gene is missing, faulty, or not working properly. In gene therapy, scientists can repair faulty genes, replace missing ones with healthy copies, or turn genes on or off to help the body fight disease.
“The therapy works by turning on a type of hemoglobin found in babies, which can stop the harmful sickle hemoglobin, and this helps make all types of sickle cell disease less severe,” Dr. Matthias Magoola, a senior scientist on the program, said.
The therapy, developed by DEI Biopharma, targets a gene that helps the body make fetal hemoglobin, which can reduce the effects of sickle cell disease. It uses CRISPR technology, a gene-editing tool that lets scientists find and change specific parts of DNA inside cells.
“By focusing on a shared part of the gene, we can create one gene therapy that works for all patients,” Dr. Magoola said. “This could be the first gene therapy that can be made in large quantities and used widely for a single-gene disease.”
The therapy works for all types of sickle cell disease, regardless of the specific gene problem, including the most common type, mixed types, and cases with other blood disorders.
According to Dr. Magoola, the therapy helps the body make a type of hemoglobin found in babies by changing a gene called B-cell lymphoma/leukemia 11A (BCL11A), which controls how this hemoglobin is made. “This gene controls the switch from fetal to adult hemoglobin, and higher levels of fetal hemoglobin are linked to milder disease in all types of sickle cell,” Dr. Magoola said.
The company sees this as a new gene therapy that could one day work like a generic standard, easy to make, and produced in large quantities. “Sickle cell disease mostly affects communities that have been left behind in medical progress,” Dr. Magoola said. “Our goal is to change that by making advanced gene therapy easy to produce, distribute, and affordable worldwide.”
The company has patented its CRISPR technology, including the tools, delivery methods, and ways to increase fetal hemoglobin. Early studies are ongoing to test how well the gene editing works, how long fetal hemoglobin stays active, and whether it is safe.
Dr. Magoola said the company plans to form partnerships, work with regulators, and carry out step-by-step clinical trials following international standards.
Uganda’s National Burden
The Uganda Sickle Surveillance Study (US 3) reports that approximately 20,000 babies are born with sickle cell disease in Uganda each year. Busoga region is the hardest hit, with about 5,000 children born with the disease each year. Hospital authorities report that 60-80 children visit the sickle cell clinic at Jinja Regional Referral Hospital each week.
Sub-Saharan Africa bears the heaviest sickle cell burden, with 75-80% of global cases. About 400,000-500,000 babies are born with the disease each year, mostly in this region. The highest burden is in western and central Africa, especially Nigeria and the Democratic Republic of the Congo, with high under-five mortality in countries like Ghana, Cameroon, Angola, Guinea, Niger, and Kenya.
The therapy’s development could bring hope to millions of patients worldwide, particularly in low- and middle-income countries where access to treatment is limited.