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Alessandra Giorgetti, PhD
Anna Bigas, PhD
Csaba Bödör, PhD
Marcin Wlodarski, MD, PhD

GATA2 EU Research Consortium

We are a group of basic and clinical scientist dedicated to the research on a human disorder GATA2 Deficiency. This hereditary condition predisposes to the development of immunodeficiency, myelodysplastic syndromes, and leukemias. In 2019 we formed a network of European investigators and were funded by the ERA-Net Cofund in Personalised Medicine, within the Horizon 2020 EU Funding Framework

Acronym: GATA2-HuMo (Reference Number: ERAPERMED2018-123)


Germline heterozygous GATA2 mutations underlie a complex disorder characterized by immunodeficiency, bone marrow failure and high risk to develop myelodysplastic syndrome (MDS)/ acute myeloid leukemia (AML). GATA2 deficiency has been established as the most common hereditary cause of MDS in children and adolescents. So far, allogeneic stem cell transplantation is the only curative therapy; hence there is a clear unmet medical need. A better understanding of the molecular basis of this entity may pave the way for personalized surveillance and treatment approaches. Since its discovery in 2011, important questions pertaining to mechanism GATA2 deficiency remain unanswered: (i) Is GATA2 mutation itself enough to promote MDS/AML development? (ii) Is there a genotype-phenotype association? (iii) What factors control disease penetrance? (iv) Which genetic or epigenetic lesions are essential for malignant transformation and how do they crosstalk? (v) Is there a GATA2-specific clonal architecture in MDS marrow? (vi) What is the role of microenvironment? Answering these questions has been hampered by the absence of robust disease models. Here we propose to unravel the mechanisms underlying the malignant progression of GATA2 deficiency by combining genomic approaches (genome, transcriptome, methylome) with in vitro and in vivo models. The SPECIFIC objectives of the consortium are: 1) to develop a European GATA2 registry and specimen biobank allowing for genotype-phenotype characterization, 2) to decipher the genome/epigenome and clonal architecture of GATA2-related MDS/AML 3) to elucidate the functional consequences of recurrent/novel GATA2 and driver mutations in human (induced pluripotent stem cells) and mouse-based disease models, and, 4) to develop algorithms for clinical management based on personalized molecular and functional data. The overarching goal is to acquire a precise understanding of myeloid transformation allowing for a personalized approach to patient care.

Research Publications (starting 2020)

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency. Leukemia. 2020 Jun 18.doi: 10.1038/s41375-020-0899-5. Online ahead of print