Rare diseases and their impact on our lives

A few days ago, I was present at the installation of a plaque with the name of a patient suffering from a rare disease in the laboratory of the Faculty of Biology of the University of Murcia. This disease is known as XLID98 and is associated with problems understanding and developing speech. Arising from a defect in the NEXMIF gene located on the X chromosome, the plate was a sign of gratitude and recognition of the research work being done in this area by one of the UMU research groups.

Rare or infrequent diseases are defined as a set of pathologies with a low prevalence in the population, which significantly reduce the hope and/or quality of life of patients suffering from them. To be considered rare, a particular disease can only affect a limited number of people, exactly less than 5 per 10,000 inhabitants. Even today, people with rare diseases (and their families) often face extreme challenges, such as getting the right diagnosis and access to treatment, as few resources are allocated to research. It is estimated that there are about 7,000 rare diseases.

Aiming to find out what is behind this disease, this research group aims to improve the quality of life of this patient by testing modern biotechnological methods on zebrafish (an animal model widely used in biomedicine). It also seeks to obtain financial resources to conduct research by requesting funding, sometimes through crowdfunding or micropatronage.

The zebrafish is the second most widely used animal model in laboratories after the mouse, as it is a species that retains approximately 85% of the genes that cause human disease, and its genetic characteristics allow DNA to be modified differently, simply and quickly. using CRISPR technology. This technology makes it possible to test drugs on a large scale or to visualize the various processes of a particular disease. One of the great advantages of these fish is that they react to medications in the same way that humans do.

There are several research groups, both regionally, nationally and internationally, that are using zebrafish in search of solutions to treat rare diseases. These projects, despite the difficulties associated with their success, open a door of hope for patients and their families. Isn’t that what science is about? To improve all lives?

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