The AKU’s Centre for Regenerative Medicine and Stem Cell Research, CRM, has won a competitive research funding of Rs159.60 million ($1.02 million) to look for a genetic “cure” for two major blood illnesses, beta thalassemia and sickle cell anaemia.
Thalassemia and sickle cell disease are hereditary illnesses that are commonly handed on from parent to child in Pakistan. There are an estimated 100,000 thalassemia sufferers in the country who rely on blood transfusions. Every year, 5,000 more babies are born with the condition. In Pakistan, on the other hand, sickle-cell disease is one of the most well-known causes of anaemia.
Both disorders are caused by mutations in the haemoglobin beta-globin (HBB) gene, according to doctors and researchers. Patients are deficient in haemoglobin, a protein that transports oxygen from the lungs to the rest of the body. A lack of oxygen in the body’s tissues can result in poor growth, organ damage, and other health issues.
Blood transfusions or bone marrow transplants are the sole options, both of which have downsides and negative effects. Iron overload and organ damage are common side effects of blood transfusion. Bone marrow transplantation is a costly, hazardous, and intrusive procedure reserved for patients who are able to discover acceptable donors with matching blood stem cells. In addition, most patients in Pakistan cannot receive this treatment due to a lack of bone marrow transplantation facilities and expertise.
In light of these obstacles, scientists around the world are investigating new gene and cell repair therapies as a treatment and possibly a cure.
Dr. Mian is enthusiastic about this study project: “Our team will be among the few researchers focusing on developing this gene-editing technology around the world.” Even better, performing this research in Pakistan will help build local expertise and solutions rather than relying on outside treatments.”
Emerging gene and cell therapies are currently thought to have the greatest influence on healthcare in the next years. Professor El-Nasir Lalani, the founding director of CRM, states, “This possible therapy could provide a lasting cure, bypassing the requirement for bone marrow transplant and blood transfusion.”In beta thalassemia and sickle cell anaemia, the second therapy involves reactivating the production of foetal haemoglobin to replace lost or defective adult haemoglobin.”
Dr. Mian and his team will use the same gene-editing technique and approach to silence the BCL11A gene, which prevents the production of foetal haemoglobin.