Our Head of Neurology, Alba Navarro, PhD, took part in an initiative that brought together more than 120 professionals from different disciplines to solve complex clinical cases with no prior diagnosis.
November 12, 2025.
Twelve children with suspected rare diseases but without genetic confirmation and 48 hours to find an answer. That was the challenge faced by more than 120 experts from Spain and Latin America, including molecular geneticists, medical specialists, genetic counselors, bioinformaticians, and other professionals, who gathered in Murcia during the II Ibero-American Congress of Medical Genetics.
The goal of Unicas Hackathon, organized by Sant Joan de Déu Barcelona Children’s Hospital and the Virgen de la Arrixaca University Clinical Hospital in Murcia, was to create a replicable model that promotes new technologies and multidisciplinary collaboration to accelerate the diagnosis of rare diseases, especially in pediatric patients.
Many of these children and their families have been searching for a diagnosis for years. Thanks to this initiative, 6 of the 12 children received a diagnosis, and in two other cases, relevant findings were identified that will allow further investigation into their condition.
Alba Navarro, PhD, Head of the Clinical Neurology Department at Health in Code, was part of one of the five teams participating in the Hackathon. Each group worked on two clinical cases with no prior diagnosis, using detailed clinical information from the patients and sequencing data obtained through state-of-the-art technologies.
“We started with a joint session in which the cases were presented and the working tools were reviewed,” explains Alba. “From there, each team organized internally to analyze the cases and propose diagnostic hypotheses. It was a collaborative process in which we held several meetings to share progress and discuss results.”
Mutual and interdisciplinary learning
The overall assessment of the event by the participants was very positive. According to Alba Navarro, the experience was extraordinary and highly enriching, both on a personal and professional level.
“I had the opportunity to meet and learn from outstanding professionals and to observe different ways of approaching the same problem from various disciplines, all while working as a team,” she notes. “The combination of expertise and cutting-edge technologies allowed for a comprehensive approach to the cases.”
In addition to the professionals present, the team collaborated with external researchers who had previously worked on similar cases, contributing to the achievement of several diagnoses.
“Obtaining a diagnosis is essential for children and their families. It allows them to put a name to what is happening, plan tailored clinical follow-up, and, in some cases, opens the door to potential therapeutic options,” she explains.
What Alba Navarro highlights most is the strong spirit of collaboration. “It was wonderful to see so many people so motivated and working toward a common goal. This experience shows that collaboration is essential to advance in the field of genetics,” concludes Alba Navarro, expressing her gratitude to the organizers for the opportunity to participate and for all the effort made to make this event possible.
