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People with EB in Brazil have the opportunity to access genetic sequencing tests free of charge

With 28th February 2021 marking Rare Disease Day, DEBRA Brasil and Illumina have joined forces to launch a pioneering and high impact initiative involving 400 people with EB in Brazil. Genetic testing is the gold standard diagnostic test for rare diseases, where in Brazil access is restricted due to the high financial cost for most people.

The DEBRA Brasil team, which is at the forefront of contact with families and people with EB, has a clear understanding of the importance of diagnosis and the anxiety of families in seeking quality diagnoses for people with EB.

Through an unprecedented and innovative partnership, DEBRA Brasil, Illumina, and Mendelics will provide 400 sequencing tests for people with EB free of charge. A registration process for these interested will be established so that they are selected and guided from the process for the test.

The project consists of a few steps as follows:

  1. fill out the registration form and complete the questionnaire

  2. 400 with EB participants will be selected

  3. the 400 will be registered with the sequencing company

  4. collection of samples will take place for shipment to the laboratory

  5. the tests will be conducted and reports issued

  6. videoconferences will be held with DEBRA's volunteer doctors to present the results to families

"It is a great dream come true. This project on World Rare Disease Day is a pride for us at DEBRA Brasil. Only a small part of the population has access to a gold standard diagnosis. And being able to make this project feasible, which will benefit 400 people with EB, is a pride for our DEBRA Brasil team. It is a big logistical challenge, clinical among others, but it is what motivates us daily," comments Leandro Rossi, President of DEBRA Brasil.

"This project aims to identify people with EB in Brazil who do not have a molecular diagnosis to participate in a project to map genetic variants in Brazil. This research has a socio-economic, educational, and scientific character as priorities," says Dr Priscila Matsumoto, Director of Research and General Coordinator of the Project.

"Genetic sequencing is a type of test that can identify genetic variations inherited from our parents and that are typically passed on to our children. The "mistakes" that can occur in our genes (called mutations) can manifest themselves in the form of disease. In this way, genetic tests can be used to confirm the diagnosis of a disease and sometimes guide treatment. In the case of EB, genetic testing is usually done to confirm the specific type of disease and guide genetic counselling. In addition, it is important to consider possible prenatal examinations with families who have a history of epidermolysis bullous," explains Vagner Simões, National Manager at Illumina Brasil.

For more information and to register, visit:

- Leandro Rossi, President of DEBRA Brasil

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24 de jun. de 2021

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