KARACHI: Aga Khan University has received a $1.5 million grant from Wellcome Leap, a leading global health innovation organization to support a project that seeks to transform the treatment of Beta Thalassemia and Sickle Cell Disease (SCD).
This competitive grant provides a significant boost to the development of innovative gene therapies, said a statement on Tuesday.
Both B-Thalassemia and SCD are hereditary conditions, arising from genetic anomalies affecting the production of hemoglobin, a vital protein responsible for transporting oxygen in our bloodstream.
Dr Afsar Mian, Assistant Professor at Aga Khan University, and the principal investigator of the project, explains the limitations of the only known curative therapy, allogenic hematopoietic stem cell (HSC) transplantation, which is dependent on donor compatibility, expensive and can result in treatment failure. Dr Mian states, ‘This limits access to treatment and highlights the need for alternative therapies.’
In recent years, the introduction of
transplantation of genetically modified stem cells offers hope for treating B-Thalassemia and SCD. Recent advancements in gene editing technologies such as CRISPR-Cas9, offer hope to correct genetic mutations. This involves editing stem cells taken from patients using CRISPR-Cas9 before transplanting into the same patient.
The research team at AKU aims to explore two advanced gene editing techniques: base editing and prime editing. These techniques have gained popularity due to their precision, specificity, and minimal unintended side effects compared to CRISPR-Cas9 technology.
‘CRISPR is a remarkable technology that allows scientists to make changes in our DNA. However, prime editing takes gene editing to the next level,’ says Dr Mian. ‘It offers even more precision and versatility in fixing genetic errors, reduces the chances of unintended effects, and increases the effectiveness of the editing process.’
The initial testing phase of this new gene editing therapy will take place in the laboratory, where s
tem cells with the remarkable ability to develop into any cell type will be collected from Thalassemia and SCD patients. If laboratory tests prove successful, the next step will involve pre-clinical trials on animals.
These trials will aim to assess the safety of the proposed treatments before they can be tested on patients. This careful progression from laboratory testing to pre-clinical trials ensures that the potential therapies are thoroughly examined and meet the necessary safety standards before further advancement.
The study team at AKU includes Dr. Afsar Mian, Dr. Salman Kirmani, Dr. Ambreen Fatima, Dr. Fawad Ur Rehman, and Dr. Irfan Hussain.
This groundbreaking approach offers newfound hope and relief to a significant number of Thalassemia patients, paving the way for targeted and efficient solutions customized to the distinct genetic profiles of affected individuals.