Using induced pluripotent stem cells to find causes and cures for bone marrow failure in children and young adults

2018-2023 (Grant-in-Aid): Using induced pluripotent stem cells to find causes and cures for bone marrow failure in children and young adults. Professor Andrew Elefanty, Murdoch Children’s Research Institute.

Bone Marrow Failure Syndromes may be caused by inherited mutations. In cases where mutated genes are not identified, it is believed that an abnormal immune system is the cause. Induced pluripotent stem cells (iPSCs) are a powerful research tool in understanding the mechanisms behind a disease, as they can be grown into many different cell types, including blood cells.

The goal of this project is to create iPSCs from patients with bone marrow failure and their relatives to study the cause of bone marrow failure. To date, iPSCs have been made from 5 patients with unknown cause of bone marrow failure and their family members and one patient with a known inherited mutation.

By examining the differences in blood cells grown from these iPSCs, the team can better understand abnormalities in blood cells that lead to bone marrow failure and explore new treatment options.