Key hypothesis and expected outcomes
The overall aim of this proposal is to gain insight in the natural history of GATA2 deficiency through building a unified data set collection at European level and developing preclinical scientific models to delineate personalized follow-up and treatment for patients.
Ongoing Projects and Research Areas
This consortium’s research is split in 6 main work packages with distinct objectives:
Work Package 1
Unified data set and biosamples to gain insight in natural history of GATA2 deficiency
To draw a precise picture of clinical manifestations and natural history of GATA2 deficiency building on different large national and international patient registries
Work Package 2
Genotype/phenotype correlation of major clinical manifestations in GATA2 deficiency
To determine genotype-phenotype correlation in GATA2 deficiency and the penetrance of major clinical manifestations
Work Package 3
Patients’ perspectives and expectations regarding follow-up and Quality of Life
To address the GATA2 deficient patients’ perspectives and expectations regarding patient follow-up and Quality of Life (QoL)
Work Package 4
Evaluation of disease risk and progression to leukemic stages by single-cell multi-omic approaches
To delineate the mechanisms of malignant transformation in GATA2 deficiency to identify prognostic markers, therapeutic targets and preventive measures
Work Package 5
Establish in vitro and in vivo GATA2-deficient models to assess the functional relevance of distinct alterations and drug effectiveness
To establish preclinical GATA2 disease models to study mechanisms of malignant transformation, the contribution of niche cells and new therapeutic options
Work Package 6
Implement personalized medicine into the care of patients with GATA2 deficiency
To establish algorithms for patient-tailored diagnostic and therapeutic management