Aga Khan University’s research centre won a competitive research grant of Rs 159.60 million to find a cure for two common genetic disorders — beta thalassaemia and sickle cell anaemia. AKU’s Centre for Regenerative Medicine and Stem Cell Research (CRM), was one of the five winning recipients, out of more than 700 applicants in the inaugural round of The World Bank-supported HEC Grand Challenge Fund, launched in 2020.

Currently, Pakistan has an estimated 100,000 transfusion-dependent thalassaemia patients with 5,000-9000 children born with the disease every year. The estimated carrier rate is 5-7%, with 9.8 million carriers in the total population. It usually affects families where intermarriages are common, leading to gene entrapment and proliferation. Sickle-cell disease is also one of the leading causes of anaemia in the country.

Beta thalassemia and sickle cell disease are caused by inherited mutations in the gene encoding ß-globin, HBB. Patients suffer from a lack of haemoglobin, the protein that carries oxygen from the lungs to the rest of the body; and a lack of oxygen in the body’s tissues can lead to poor growth, organ damage and other health problems.

While bone marrow transplants can help they are costly, risky and require one to find a donor. Limited bone marrow transplantation facilities and expertise in Pakistan also mean that most patients cannot access this treatment. Given these challenges, researchers around the world are turning to gene repair therapies to find a potentially permanent cure. Frequent blood transfusions also have side effects.

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“Our team will be among the few researchers around the globe who are working on developing this gene editing approach. Better still, conducting this study in Pakistan will help build local capacity and solutions, instead of waiting for treatments from elsewhere,” explained Dr Afsar Mian of AKU’s Centre for Regenerative Medicine and Stem Cell Research (CRM), which will carry out the study.

“The team will work on gene-silencing, using the same gene editing tool and approach, suppressing the BCL11A gene that stops foetal haemoglobin from being produced.”

This approach has shown promise. In a 2021 paper published in the New England Journal of Medicine, researchers at the University of Chicago, used the gene editing tool CRISPR to modify the DNA of stem cells by deleting BCL11A – the gene responsible for suppressing fetal hemoglobin production. By doing so, patients with congenital hemoglobin defects (beta thalassemia or sickle cell disease) make enough fetal hemoglobin to overcome the effect of the defective hemoglobin that causes their disease. The first two patients to receive this therapy have been cured by it.

“This potential therapy could provide a permanent cure, bypassing the need for bone marrow transplant and blood transfusion,” said Professor El-Nasir Lalani, founding director of CRM.

The study team includes Drs Afsar Mian, Salma Jahan, Hammad Hassan and Mohammed Yusuf from CRM and international collaborators from the University of California, San Francisco, the Norwegian University of Science and Technology and Cardiff University in the UK.

From : pk.mashable.com

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