Research of rare diseases in the Biobank of Institute of Research Vall d’Hebron

The Primary Immune Deficiencies (PIDD) are the group of rare diseases caused by the quantitative alteration and/or functional alteration of different mechanisms involved in the immunological response of the patient. The patients with PIDD are susceptible to suffer infections that, if not treated properly, can be lethal or leave sequels that would worsen their quality of life.

The PIDD occur in more than 1 in 2.000 live births. The most severe form of PID, the group of Severe Combined Immunodeficiency (SCID) is found in 1 of every 50.000 live births. These children are called “Bubble children”. Children with SCID cannot be exposed to our environment without the risk of dying from infection. For this reason, when the immunodeficiency is detected, the child is kept in a sterile and protected environment, hence the name “Bubble Children”.

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 caused by PIDD in order to improve the identification techniques and for characterization of mutations of patients.

The Biobank of Immunology from the Research Institute of Vall d’Hebron consists in a collection on blood samples from pediatric patients with PIDD.

rare-diseases

With this new project, Nicequest give the option to its users to change their points for donations to help the scientific community to research on rare diseases that nowadays are very difficult to diagnose. With 7.000€ the following aims will be made:

  • 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.

Thanks to the solidarity of the Nicequest users and thanks to Biobank of Immunology the correct availability of samples of PIDDs will be ensured in case it is requested by other centers and also the collaborative investigation will be encouraged because there are different kinds of PIDDs that are not very frequently and it is necessary to study patients from worldwide to diagnose these rare diseases.

With this project the research and the discoveries about the diagnosis and cure of rare diseases will be expanded. This project will help all those people suffering from primary immunodeficiency, now and in the future.

The Worldcoo team.

Leave a Reply

made with in BCN