Tag - Rare diseases

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Research for Primary Immunodeficiency Diseases
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Research of rare diseases in the Biobank of Institute of Research Vall d’Hebron

Research for Primary Immunodeficiency Diseases

Primary Immunodeficiency diseases (PIDD) are a defect in the immune system that is caused by a genetic alteration. People that suffer this defect in their immune system are more likely to suffer infections and these infections are more dangerous than normal.

Globally, 1 of 2.000 live births is born with some alteration in their immune system. The 90% of people that suffer some Immunodeficiency are diagnosed in childhood, usually in the first years of their life.

There are more than 200 kinds of Primary Immunodeficiency diseases which are classified in 8 big groups according to their characteristics. Unfortunately, there are great ignorance by population and the doctors who are the first to have to diagnose the disease, in other words, the paediatricians and primary care physicians.

The Infection in Immunocompromised Pediatric Patients group and the Immunology group at Vall d’Hebron Institute of Research (VHIR) have started to collect blood samples from patients with Primary Immunodeficiency Diseases in order to be a part of the Immunology Bank of the HUVH Biobank. The aim of the groups 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.

Research for Primary Immunodeficiency Diseases

The compilation of the blood samples from patients with Primary Immunodeficiency diseases will allow:

  • The Primary Immunodeficiency Diseases are a genetic defect inherited from father to sons; the research will allow counsel future gestations.
  • The research will allow that different cases will be reviewed and maybe get a final diagnosis that allow offering a new opportunity of treatment.
  • The research will also help to know the genetic defect that can suffer the patient. Nowadays, sometimes, a patient is diagnosed with PIDD but the doctors don’t know his genetic defects in his immune system.
  • A patient with PIDD may die because of this disease. If the researchers have a sample of this patient they may study why the defects in his immune system have caused his death.
  • The research will allow collaborating with other research centres both in the State and International level. Many kinds of PIDD are less frequently than others and it is necessary to study patients from other parts of the world. The collaboration is fundamental to help study and diagnose these rare diseases.

Thanks to the progress in research of this kind of diseases, a child called Didac, he is treated in the Vall d’Hebron Hospital, has been benefited. This is his story:

“Juan was a child who died because of suffers an immunodeficiency disease. Juan died days after his brother Didac was born. When Didac had 6 months, his doctor recommended to his parents go visit the doctors of Vall d’Hebron Hospital because his brother had died because of a immunodeficiency disease, this disease was genetic and maybe Didac could have the same disease of his brother. Ten days later, the doctors confirmed that Didac suffers a defect in his immune system.

Nowadays, Didac has 4 years and, thanks to the research of Primary Immunodeficiency Diseases, the doctors have found the mutation causing to Didac a genetic defect. Thanks to this, two month ago, a bone marrow transplant was made to Didac and now he is slowly recovering” – You can read more information about Didac here.

As you see, the future of Didac and many other children depends of the research. For this reason we encourage you to collaborate with Nicequest in the project that has the aim to help to continue researching to identify and characterize the different mutations that suffer the patients with Primary Immunodeficiency Diseases.

The Worldcoo team.

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.

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