Six patients diagnosed at the first Únicas Ibero-American Hackathon for rare, undiagnosed diseases

Experts who took part in the first Únicas Ibero-American Hackathon for rare, undiagnosed diseases have managed to diagnose six out of 12 cases that were studied over a 48-hour period, and they have also reached a suspected diagnosis for another two cases, pending confirmation through additional studies over the coming months.

This ‘hackathon’ took place in Murcia and was promoted and organised by the SJD Barcelona Children's Hospital and the Virgin of Arrixaca University Clinical Hospital (ÚNICAS Network Hospitals), with the participation of FEDER, IMIB, UMU, CIBERER, the IMPaCT GENóMICA-ISCIII program, CNAG and CRG, among many others.

After two days’ work, the clinical contacts for these patients are being contacted so they can inform families of the provisional results.

Balance of the Únicas Hackathon

The direct diagnosis rate that was reached, 50%, far exceeds the usual 20-30% achieved at these kinds of events. Encarna Guillén, Head of the Genetics Department at the SJD Barcelona Children's Hospital and Strategic Director of the Únicas SJD project, highlights the importance of these events because ‘they are an innovative model of intensive, effective interdisciplinary work, that can be incorporated into the field of healthcare to quickly obtain precise diagnoses.’

The experts—over 140 medical professionals like geneticists, bioinformaticians, clinicians and analysts, together in Murcia—will continue to work together for the next few months on cases that were unable to be diagnosed. This first ‘hackathon’ has given rise to the creation of an international network of experts in advanced omics techniques and in the use of various platforms, so that this new working model can help benefit many more patients.