The relationship between the two institutions dates back more than a decade and is closely tied to the personal experience of Iliara Borges, the founder of FUPIER.
In 2014, when her daughter began showing symptoms of a little-known disease, Borges embarked on a search for answers that led her to contact researchers abroad. To move the research forward, it was necessary to obtain and culture her daughter’s cells and send them to international laboratories.
It was then that he found support at the faculty’s Biotechnology Laboratory, where fibroblast cultures were grown and subsequently sent to Spain and England for study. That collaboration contributed to the process that led to a diagnosis.
That experience marked the beginning of a relationship that continues to this day and aims to extend those opportunities to other families.
The foundation works primarily with children and adolescents who have rare diseases, whether diagnosed or undiagnosed. Its activities include funding genetic studies, exploring research alternatives, and collaborating with international scientific institutions.
As the founder explained, one of the main challenges is that many families cannot afford complex genetic tests, such as exome or genome sequencing, which can help identify the cause of a disease.
Students Who Connect Patients with Science
Amanda Hoffman and Josefina Villalba, biotechnology engineering students, are currently completing an internship at the foundation, where they are working to connect Uruguayan patients with research groups from around the world.
The collaboration also has involves Sofía Camejo, a graduate of the same program, who works on a volunteer basis with the foundation and will join the experimental activities of the Biotechnology Laboratory. She participates in meetings with international researchers and universities, where she provides technical support to explore opportunities for scientific cooperation and follow up on potential agreements.
The addition of these students in September 2026 helped strengthen one of the foundation's main areas of work: identifying research opportunities for patients who have already received a diagnosis.
The students analyze information about patients' diseases and genetic variants, identify research groups studying those conditions, and establish contacts to explore potential collaborations or participation in international projects.
Their work does not end with the literature review. They also participate in meetings with researchers, stay in touch with families, and help coordinate the steps needed to move each case forward.
Regarding his work, Borges said:
I am amazed not only by the technical and scientific abilities of these two students, but also by their problem-solving skills.
The project has already made it possible to establish contacts with researchers abroad and to make progress toward opportunities to participate in scientific projects in countries such as Belgium, the United States, Spain, Italy, and France.
Ana Paula Mulet, deputy coordinator and researcher at the Biotechnology Laboratory, emphasized that this work requires scientific knowledge and time to analyze each case, identify relevant research, and establish connections with the teams conducting that research.
The instructor provides academic guidance to the students during their internships, which include the preparation of a final report.
For Borges, having people trained in biotechnology makes it possible not only to expand the number of international contacts but also to enhance the quality of collaborations and ensure the follow-through on projects.
This experience allows students to apply their knowledge of biotechnology to real-world situations and develop research skills while working directly with patients and their families to address their needs.
Investigating When a Diagnosis Has Not Yet Been Made
In addition to the internships, the collaboration opened up a new line of research within the Biotechnology Laboratory, focused on patients who, even after undergoing genetic testing, still do not know the cause of their illness.
The team began working on one of these cases by analyzing genetic information that had been obtained previously.
"What we're doing here is trying to determine, among the differences they found, whether any of them might be the cause of the disease," Mulet explained.
In this first stage, researchers study specific genetic variants to determine, among other things, whether they were inherited from the parents and to assess their possible relationship to the patient's symptoms.
This case involves neurodevelopmental abnormalities and a genetic variant that could affect the expression of a protein found in the brain. However, further evidence is needed to determine its significance.
The study also has the support of Dr. Ignacio Ferrer, associate academic coordinator of the Bachelor’s Degree in Bioinformatics, who is assisting with the bioinformatic analysis of the available data in order to identify information that could guide future research.
Mulet clarified that the laboratory does not perform clinical diagnoses, but rather seeks to provide scientific evidence that may be useful to the medical professionals and geneticists involved.
The goal is to proceed on a case-by-case basis and, in the future, to develop more sustained lines of research on specific diseases, both within the faculty and in collaboration with institutions abroad.
"Our goal is to develop a more established line of research, where we can focus on a specific disease," Mulet said.
Science as an Opportunity for Families
For the foundation, access to international research is particularly important for diseases that affect a small number of people and about which there is still little scientific knowledge.
Patient participation in research projects does not always lead to immediate treatment, but it can help us better understand a disease, study its progression, and generate the knowledge needed for future treatment options.
In this context, partnerships with universities and research centers make it possible to provide opportunities that might otherwise be difficult for many Uruguayan families to access.
Borges hopes that this collaboration will continue to grow and that new institutions will join the search for answers. He also hopes that, in the future, research and clinical trials can be conducted in Uruguay, so that families will not have to travel abroad to access certain opportunities.
"It's important that this kind of collaboration spreads, because these agreements are truly what make a difference—they ensure that rare diseases know no borders," said the founder.
This initiative is linked to the Sustainable Development Goal (SDG) 3: Good Health and Well-being, by promoting scientific research on rare diseases and contributing to the search for diagnoses and new research opportunities for patients.
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