Tag - Primary Immunodeficiency Diseases

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Nicequest and its users continue with their social commitment
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Research for Primary Immunodeficiency Diseases

Nicequest and its users continue with their social commitment

In Europe, a disease is considered as rare when it affects 1 in every 2.000 people. Nowadays, there are more than 6.000 rare diseases which affect to 30.000 million European citizen. The 80% of rare diseases have a genetic origin and often these diseases are chronicles and put at risk the life of the person who suffer it (source: EURORDIS).

Primary Immunodeficiency diseases (PIDD) are a group of rare diseases caused by alterations in the immune system of people suffering from them. Patients who suffer PIDD are susceptible to suffer infections and, if these infections are not treated appropriately, they can be fatal or can cause permanent effects that will reduce the quality of life of those suffering from them.

At the Hospital de la Vall d’Hebron- Institut de Recerca (VHIR) Foundation investigate about 200 kinds of rare diseases of 26 different clinical areas. One of the kinds of rare diseases which are investigated by VHIR are the primary immunodeficiency diseases and, in order to improve the techniques of identification and characterization of the mutations of the patients, VHIR has created a Biobank. There is where the researchers collect and preserve blood samples of patients with PIDD.

Nicequest-funded-project

At the end of November, Niquest began to collaborate with VHIR to help in the investigation of this kind of rare diseases and achieve the following objectives:

  • 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.

Once again the socially committed users of Nicequest have changed their mollusc shells for donations. Thanks to their solidarity, the investigations and the discoveries will be expanded internationally in order to make possible the diagnosis and the cure of rare diseases.

Nicequest new project

Many indigenous women from communities in north-eastern Cauca in Colombia have huge difficulties in selling their crafts. The reason is that these communities are suffering the consequences of armed conflict and, this situation of vulnerability together with the market ignorance and the lack of organization and planning of the production cause this situation.

In its new project, Nicequest will collaborate with CODESPA Foundation to help strengthen the socio-organizational and business processes of 5 associations of indigenous and peasant women of 5 municipalities in north-eastern Cauca.

Nicequest-new-project

To obtain the aim of Nicequest and CODESPA, different activities focused in guarantee the trading process of artisan products made by benefited women will be carried out:

  • Designing a business plan and annual operating plans
  • Identifying new markets and participation in national fairs
  • Creating an advertising campaign, a communication strategy and a network corporate image
  • Implementing a purchase fund for developing their productive activities

With the help of Nicequest users, 74 indigenous artisan women from five different ethnic groups (guambianos, pots, ambalueños, kiswueñas and mestizo), will see strengthened their socio-organizational and business processes to commercialize their products.

The Worldcoo team.

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.

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