The Advance_ADC research project has received some help from the Ministry of Science and Innovation’s “Collaboration Challenges” to carry out the study on Type II Congenital Dyserythropoietic Anemia Therapy (CDA). The research, led by the BloodGenetics company, receives support from the UIC Barcelona Iron Metabolism Research Group, led by Dr Mayka Sánchez.

The aim of this study is to improve the diagnosis of the different subtypes of CDA by incorporating recently identified new genes using mass sequencing techniques. The study also aims to develop advanced gene therapy for type II CDA.

Congenital dyserythropoietic anemia consists of a group of rare inherited disorders that lead to a defective protection of red blood cells. And, although four main forms of CDA have been characterised (type I, II, III, and IV), there are a number of patients who cannot be classified into these previously described forms.

“Identifying the mutated genes involved in most subgroups will improve diagnostic possibilities and allow better classification of patients with this disease,” explains Dr Sanchez.

The project involves biomedical companies such as BloodGenetics and VIVEbiotech, research and teaching centres such as CIEMAT and UIC Barcelona, as well as patient associations such as ADISCON and APU.