Results and implementation


Patients diagnosed with congenital neutropenia and their family members as well as patients with immune-mediated neutropenia will be recruited to the project.

This will create an extensive database that, together with the collected material samples (blood, bone marrow, urine), will be a repository of knowledge that can be used to develop the project in the future. The new generation sequencing and direct sequencing techniques used in the project will enable a thorough understanding of the genetic basis of congenital neutropenia, as well as allow the identification of completely new genes related to its pathogenesis and course. One of the main assumptions of the project is the use of labeled peptide probes dedicated to specific neutrophilic proteases, which in the case of genetically conditioned neutropenia, are characterized by variable location in neutrophils. This will allow for the development of a quick and inexpensive diagnostic test to differentiate the causes of neutropenia. The use of CRISPR/Cas9 technology in the correction of hematopoietic CD34+ stem cells from patients, followed by their differentiation towards neutrophils, will enable the use of cell therapy of congenital neutropenia and other hematopoiesis disorders, in the future.

The safety and effectiveness of such therapy will be assessed based on studies ex vivo in cell models and in vivo in mouse models. All activities used in the project will lead to the creation of a new diagnostic algorithm for patients with neutropenia and personalization of their treatment.


under construction