“The unique fusion of individual innovative technologies will provide a novel diagnostic tool leading to a better understanding of the underlying pathophysiology of rare anaemia.”

Lars Kaestner, Coordinator of CoMMiTMenT

Treatment concept

The identification and characterisation of specific ion haemostasis disorders in the channelopathies that are associated with the above-mentioned RA is intended to lead to the development of new medications. All of the above-mentioned diseases and pathologies will be investigated by closely collaborating clinicians and basic scientists within CoMMiTMenT. The path forward is:

  1. the identification of the subpopulation of cells with altered ion homeostasis using fluorescent dyes;
  2. the functional characterisation of altered cellular conductance;
  3. parallel molecular biology approaches to identify the dysfunctional channel;
  4. the development of an “easy” diagnosis procedure;
  5. the screening of potential substances and drugs to modulate the channel activity; and
  6. the creation of throughput concepts of therapeutic intervention.

To obtain access to a significant number of appropriate patients, CoMMiTMenT has ensured a strong collaboration with the European Network for Rare and Congenital Anaemias (ENERCA).