This project aims to understand how GATA2 mutations can lead to Myelodysplastic Syndromes (MDS) and to explore potential new treatments using cutting-edge gene-editing technology. GATA2 mutations are often found in patients with a familial form of MDS, leading to blood production issues and an increased risk of developing acute myeloid leukemia. However, the exact way these mutations affect blood cell development and lead to MDS is not fully understood.

To uncover these questions, our team will use CRISPR/Cas9, a powerful gene-editing tool, to introduce GATA2 mutations into human blood stem cells. These cells will then be studied to see how the mutations affect blood cell development and can lead to MDS. We will also introduce other genetic changes often seen in MDS to study their combined effects. Additionally, we will attempt to correct the GATA2 mutation in these cells to see if this can reverse the disease process.

Our research stands out by combining the latest in gene editing with advanced cell analysis techniques in a model that closely resembles human disease. By doing so, we aim to decipher the complex mechanisms by which GATA2 mutations trigger MDS. Ultimately, this could pave the way for early, targeted treatments for families prone to MDS, offering hope for preventing the disease before it starts.