Individuals with heterozygous germline GATA2 mutation present with a rare and highly heterogeneous syndrome. Prognosis is dismal, especially because of immunodeficiency and an exceedingly high risk of myelodysplastic syndrome and leukemia. While most phenotypes are considered to originate prenatally, clinical presentation of GATA2 deficiency is age-specific. Early diagnosis, personalized care, risk-adapted surveillance and genetic counseling is key to improve patient care. Insight in phenotype-genotype correlation and penetrance of major clinical manifestations as well as the development of novel biomarkers and therapies are urgently required to improve outcomes and quality of life. Currently, allogeneic stem cell transplantation is the only curative treatment but the optimal conditioning and timing for it remain open issues.

The proposed 3D-GATA2 consortium is built on a large European clinical network joining national or international groups, allowing important single-cell multi-omic analyses for these patients and adding unique preclinical model systems for a disease affecting a central gene of the hematopoietic and immunologic systems.

This will ensure the successful characterization of the natural disease course, the delineation of molecular mechanisms underlying bone marrow failure and malignant transformation, and the identification of novel biomarkers and therapies. It is our ultimate goal to integrate personalized medicine into care of affected individuals. In line with patient’s preference, our collaborative work will address patients’ perspectives and expectations regarding follow-up and Quality of Life with the international IPOPI patient advocacy group.

Programme 3D-GATA2 is laureate of the European Joint Programme Rare Diseases 2023 transnational call for projects, which focuses on “natural history studies addressing unmet needs in the field of rare diseases”.

Amount granted : ND

Duration: ND.

Contact CRCT – Pr Marlène Pasquet (CHU of Toulouse) Igaald Team

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