Anemia diseritropoyética congénita

Agreement signed with APU-ADISCON

Congenital dyserythropoietic anaemia (CDA) is the general name for group of hereditary illnesses of the blood. Patients have chronic anaemia of varying degrees and their red blood cells don't develop properly (inefficient erythropoiesis). They also have defects in the precursor cells in their bone marrow from which the red blood cells should develop. Other common symptoms are jaundice, enlargement of the spleen and or the liver. The first symptoms usually appear just after birth or in infancy. Patients need repeated blood transfusions to stabilize the anaemia. There are five subtypes of CDA currently known, each caused by mutations in different genes.

Dr Mayka Sanchez's laboratory studies rare diseases of the blood, including hereditary anaemias. Amongst other work the group designs diagnostic systems to differentiate between different types of anaemia, which often have similar symptoms but are caused by faults in different genes and require different treatments. They have designed a panel of genes; a standard test to use on blood samples from patients', which screens for the presence of mutations in a range of genes implicated in different anaemias, including the genes for the different types of CDA. This test will make the diagnosis of these patients a lot easier. More importantly, knowing which gene is mutated allows the doctors to apply the most appropriate treatment for that patient.

Now thanks to the support of the Association of Patients and Families of Congenital dyserythropoietic anaemia (ADISCON) and the Pablo Ugarte Association (APU) the group has been able to hire a young researcher to work on the project "Towards a better diagnosis and treatment for CDA Type 2". The participation of patients' groups and members of the public is an essential support for research into rare diseases, such as CDA. This is even more important now that public financing of research has been severely reduced in the last decade.

Anna Barqué, Researcher in Mayka Sanchez's Group

I decided to study biomedical science because I wanted to understand how the human body worked when it is healthy and when it is ill and I wanted to know what was happening on the molecular level. When I started studying biology at Baccalaureate level I had to study a lot, I found it very difficult to retain all the complex information. I spent many hours and promised myself that I would get a good grade. In the end my hard work got results and I discovered that all the subjects we studied at university were fascinating.

Now I have the privilege to work on the CDS project in Dr Sanchez's group and all thanks to the hard work of the patients and their families. It is a wonderful opportunity for me, but also a great responsibility. Because science can be a long process and we do not often get immediate results; I am very conscious of the need for scientists to learn how to explain what they are doing to the public in general. I will do my best to live up to the hopes of my supporters.