Karachi, The Aga Khan University has been awarded a $1.5 million grant by Wellcome Leap, a global health innovation organization, to spearhead a project aimed at revolutionizing the treatment of ß-Thalassemia and Sickle Cell Disease (SCD) in Pakistan. This initiative marks a significant advancement in the fight against these hereditary diseases, which have long inflicted substantial physical, emotional, and financial distress on affected individuals and their families in South Asia.
According to The Aga Khan University, the funding will facilitate the development of innovative gene therapies targeting ß-Thalassemia and SCD—conditions caused by genetic mutations affecting hemoglobin production. In Pakistan, a country with a high rate of consanguineous marriages, over 7% of the population carries the ß-Thalassemia gene, and the prevalence of SCD is estimated at 2%. The country registers over 100,000 Thalassemia patients, with around 9,000 children born annually with Thalassemia Major, a severe form of the disease necessitating costly treatment including regular blood transfusions and iron chelation therapy.
The project, led by Dr. Afsar Mian, Assistant Professor at Aga Khan University, aims to overcome the limitations of the only known curative therapy—allogenic hematopoietic stem cell (HSC) transplantation—by exploring cutting-edge gene editing technologies such as base editing and prime editing. These techniques promise greater precision, specificity, and fewer unintended side effects compared to the traditional CRISPR-Cas9 gene editing method.
Dr. Mian emphasized the potential of prime editing to correct genetic mutations with unprecedented accuracy, thereby offering a more effective solution with minimized risks. The research will initially involve laboratory tests on stem cells collected from Thalassemia and SCD patients, followed by pre-clinical trials on animals to ensure the safety and efficacy of the proposed treatments.
The study team at AKU, comprising Dr. Afsar Mian, Dr. Salman Kirmani, Dr. Ambreen Fatima, Dr. Fawad Ur Rehman, and Dr. Irfan Hussain, is poised to make significant strides in personalized medicine for ß-Thalassemia and SCD. This research not only holds promise for patients in Pakistan but also sets a precedent for the global community in the development of targeted gene therapies for hereditary diseases.