LAHORE : Researchers at the University of Health Sciences (UHS) have made important progress in developing a new gene-editing approach for the treatment of beta-thalassemia, a serious inherited blood disorder that affects thousands of people in Pakistan and around the world.
Beta-thalassemia is caused by a defect in the beta-globin gene, which is responsible for making hemoglobin, the protein in red blood cells that carries oxygen throughout the body. When this gene does not work properly, the body cannot produce enough healthy hemoglobin, leading to severe anemia, weakness, delayed growth, bone problems, and damage to vital organs. Many patients require lifelong blood transfusions and continuous medical care. Worldwide, around 50,000 to 60,000 children are born with the disease every year. In Pakistan, about five to seven percent of the population carries the thalassemia gene, while nearly 100,000 people are living with thalassemia major. An estimated 5,000 to 9,000 affected children are born in the country annually. The research is being carried out under the supervision of Dr Mahmood Saba from UHS Human Genetics and Molecular Biology department. The team is working on an advanced gene-editing technology called ‘multiplex prime editing,’ which allows scientists to make highly precise changes in DNA.
The UHS researchers have developed special recombinant genetic constructs designed to target the gamma-globin gene, which controls the production of fetal hemoglobin. Fetal hemoglobin is naturally present before birth and usually decreases after infancy. Scientists believe that reactivating fetal hemoglobin in thalassemia patients can help compensate for the defective adult hemoglobin and reduce the severity of the disease. This may eventually lessen patients’ dependence on repeated blood transfusions. By successfully preparing these genetic constructs, the researchers have completed an early step towards developing gene-based treatment options for beta-thalassemia. The new research at UHS focuses on treating the disease at its root cause through precision medicine and modern gene-editing techniques.
UHS VC Prof Ahsan Waheed Rathore said the achievement reflects the university’s commitment to research that can improve patient care and advance medical science.
Student researcher Taqdees Arif expressed optimism about continuing the work and contributing to future treatments for inherited genetic diseases.
