Aswini B | 04 September 2019
Sickle cell anemia is a major health concern globally and India is estimated to be the second highly affected country. It is a chronic, inherited disease. It is a condition where the red blood cells are rigid and sticky and are sickle shaped, instead of the normal flexible and round shape. Because of the irregular shape, these cells get stuck into small blood vessels causing blockage and lead to reduced blood flow and oxygen supply to various tissues and organs leading to their damage and pain. It is known to be caused by homozygous mutation in the HBB gene which is crucial for the synthesis of hemoglobin.
Currently, the only treatment available is blood and bone marrow transplant. There is no long term solution for the problem.
Researchers are actively engaged in trying to understand the disease and discover cure. However, due to limited biological models, the current disease modeling and drug discovery programs fail to recapitulate the disease phenotypes. To generate a better system to understand the disease and find therapy, more focus is being given towards stem cells.
Dr. Sivaprakash and team have isolated blood cells from a 17-year old sickle cell anemia patient and converted them to stem cells (induced pluripotent stem cells or iPSCs). They have analyzed the cells for their pluripotency and confirmed the mutation present in the cells match with the patient. Dr. Ramalingam says that, “these cells can be used to correct the mutation genetically and deliver back to the patients”. Since the cells were obtained from the patient, the antigenicity observed post correction would be lesser. He also says that, “these iPSCs, when differentiated into the haematopoietic (blood) lineage, can re-captulate the severity observed in patients. So, screening small molecules in these cells, can aid in identifying drugs that can effectively treat the patient”.
This approach of generating patient specific models for diseases would serve as an excellent disease model and offer a sustainable tissue resource for modeling the disease, develop novel therapeutic strategies using genetic modification and drug screening and opens a new arena for personalized medicine.
This work was published in Stem Cell Research on June 2019. The article is available online at https://doi.org/10.1016/j.scr.2019.101484