The Industrial University of Santander participated in one of the world’s most important scientific gatherings in the field of human genetics: the 2026 Conference of the European Society of Human Genetics (ESHG), held in Gothenburg, Sweden.
The event, organized by the European Society of Human Genetics, brought together researchers, professionals, students, and experts from 96 countries, establishing itself as an international forum for the exchange of knowledge, the presentation of scientific advances, and the creation of new opportunities for collaboration in the field of human genetics.
The conference drew approximately 6,100 attendees, both in person and virtually, and featured a wide range of scientific presentations, including nearly 1,060 electronic posters (e-posters) and 1,600 hybrid-format presentations, reflecting the high level of research and scientific development that characterizes this international gathering.
UIS, Represented by Up-and-Coming Scientific Talent
The Industrial University of Santander was represented by three members of the GENEHUIS research group, at different stages of their academic training, who presented posters on research conducted with the group.
*Sofía Pico, undergraduate medical student.
*Shirley Pitalúa, master’s student in Basic Sciences.
*Nathalia Trujillo, doctoral student in Biomedical Sciences
During their presentation, the UIS students presented the first case reported in Latin America of a microduplication in the 19q13.32–q13.33 chromosomal region. The case involves an 11-year-old female patient with global developmental delay, microcephaly, motor and language development difficulties, as well as various dysmorphic features. Through cytogenetic and microarray studies, the researchers identified a pathogenic duplication in this region of chromosome 19, which was not present in either parent and was therefore classified as a de novo variant.
By comparing this case with others reported in different countries, the researchers identified common clinical features, primarily associated with neurodevelopmental disorders. The study represents a significant contribution to our understanding of this rare chromosomal abnormality, as it adds clinical evidence from Latin America and contributes to a better understanding of the genes involved and the manifestations associated with this condition.
A Scholarship That Opens Doors to the International Scientific Community
Among the notable experiences is that of Sofía Pico, a medical student at UIS, who received a scholarship to attend the 2026 Conference of the European Society of Human Genetics.
This opportunity allowed her to participate in a highly significant international scientific forum, interact with researchers from different countries, and gain insight into the latest trends and developments in human genetics. Her participation represents not only an individual academic achievement but also an opportunity to highlight the young talent being trained at the Industrial University of Santander and the work being carried out by the GENEHUIS group.
The presence of UIS students at such international events strengthens the University’s scientific reputation, promotes academic exchange, and contributes to the development of collaborative networks that foster research in health and biomedical sciences.
