Biobank research for rare deseasesBarcelona - Spanien
Primary immune deficiencies (PIDD) are a group of rare diseases caused by alterations in the immune system of children, which globally affect 1 out of 2,000 newborns. Patients are susceptible to suffer infections that, if not treated properly, can be lethal or leave sequels that would worsen their quality of life.
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People with peimary immune deficiencies would suffer a larger number of infections and more severe ones than normally and to various complications including lymphomas and leukaemias, and even to a fatal outcome.
The most severe form of PIDD is severe combined immunodeficiency (SCID). These children can not be exposed to our environment without the risk of dying from infection, they require a TPH, which means that they should be isolated until find a compatible donor.
The Foundation of the University Hospital Vall d'Hebron - Research Institute (VHIR) has created the Biobank, to collect and preserve blood samples from patients with rare diseases to improve techniques for identification and characterization of mutations of patients.
This project will help the scientific community to research on rare diseases, as they are very difficult to diagnose.
The Biobank of Immunology consists in a collection of blood samples from pediatric patients with diseases in the immune system known as primary immunodeficiencies drawn in the Vall d'Hebron University Hospital (HUVH) in Barcelona, Spain, leeding center of the project.
VHIR researchers will collect samples of the 3 types of patients:
- patients with a clinically compatible case and genetic confirmation;
- patients with primary immunodeficiencies in which the gene that causes the disease is still unknown,
- and patients with an unknown type of immunodeficiency.
Having PIDDs samples in a Biobank ensures that the samples are correctly available in case they are needed from other centers and encourages collaborative research. Some of the PIDDs are so rare then it is necessary to study patients from different parts of the world. For this reason, collaboration is crucial for helping to study and diagnose rare diseases.
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This project will help all those people suffering from primary immunodeficiency, now and in the future. The project objective is to expand the research and discoveries worldwide for the diagnosis and cure of these diseases are possible.
- Optimize the diagnosis and offer genetic counselling to the closest relatives.
- Reach a definitive diagnosis offering a new opportunity for treatment, due to the possibility of case revision.
- Encourage collaborative research together with other research centres, nationally and internationally.