Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia

The emergence of next-generation sequencing technology (NGS) has revolutionized the diagnosis of genetic diseases including hereditary haematological diseases (HHD) providing a fast and accurate diagnosis, which ultimately leads to health improvement in these patients, as effective treatments are earlier provided, avoiding unwanted and detrimental aspects such as iron toxicity.

Gene therapy is starting to be successfully applied in HHD.

BloodGenetics (BG) S.L. has previously identified new mutations and new causative genes of HHD and nowadays is commercializing NGS-panels for a number of HHD.

This proposal will focus in a particular HHD, the Congenital dyserithropoietic anemias (CDA), a bone marrow failure condition characterized by congenital anemia with ineffective erythropoiesis.

The general aim of this proposal is to advance in the establishment of state-of-the-art tools for the diagnosis and treatment of CDA.

Specifically, we aim to: 1) stablish a new panel including novel identified genes for and improvemnent in CDA diagnosis, 2) develop new engineered cellular models using CRISPR/CAS9 system for CDA modelling and 3) develop gene therapy tools applied to type II CDA in collaboration with International University of Catalunya (UIC) and Center for Energy, Environmental and Technological Research (CIEMAT).

We strongly believe that this project will result in the achieving of a faster and more accurate diagnosis of CDA and to advance in the establishment of molecular tools for CDA gene therapy, which overall will dramatically improve patients quality of life.