Patients with rare diseases diagnosed after international hackathon
Almost a hundred experts from 27 countries took part in a hackathon on June 17–18 to identify diseases in 14 patients lacking diagnoses. “Four of them have now received an answer and we’re confident that more are to come,” says professor and consultant Ann Nordgren, who was one of the organizers of the event.
The hackathon took place at Karolinska University Hospital and was arranged by the Wilhelm Foundation, Karolinska Institutet, Karolinska University Hospital and software company Phenotips, in collaboration with the Undiagnosed Diseases Network International (UDNI) and SciLifeLab, among others.
Clinical teams, researchers, molecular biologists and data experts analysed large volumes of data and met many of the patients, who included children.
Four of the ten patients whom the experts were able analyse in the short timespan received a diagnosis, while another four were given possible diagnoses that will need more analysis. Two remain unsolved. The work will now continue remotely in hopes of solving the remaining undiagnosed diseases.
“It’s so obvious that we work better and faster as a team,” says Ann Nordgren, who leads a research group with Anna Lindstrand on rare diseases at the Department of Molecular Medicine and Surgery, Karolinska Institutet.
Patient involvement
Mikk and Helene Cederoth lost three of their youngest children to an undiagnosed disease and now run the Wilhem Foundation, a charity that strives to make sure that undiagnosed children receive a diagnosis.
“This event means a great deal for all undiagnosed patients as it creates opportunities for finding new paths and forms of collaboration,” say Mikk and Helene Cederroth. “We have patients here from six countries, including many Swedes. It’s important to bring them here and show them that they’re real children and not just cases.”
The event took a huge amount of preparation, part of which involved gathering and sequencing samples from all over the world and installing three powerful computational servers. Simply copying all the patient data took nine days.
Long-term lessons
Participants told of a desire to help patients in their home countries and learn new ways of analysing patient data.
“I hope we’ll be able to reduce the number of undiagnosed patients,” says Alain Verloes, head of clinical genetics at the Robert Debré Hospital, France, and chair of ERN ITHACA (the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders). “There are still many things we don’t fully understand about genetics. But we’ve already solved a third of the diagnoses in the patients taking part and that’s a big deal.”
Anna Lindstrand, adjunct professor at KI and consultant at Karolinska University Hospital, also sees long-term value in the multidisciplinary approach.
“We’re learning even more about how we can take the next step in the sequencing of long reads and RNA (a macro-molecule), as well as other types of tool and databases being developed by our international colleagues at their home universities. I’ve taken careful note and have easily five such tools that I’ll be taking back to my lab and getting my colleagues to test,” Anna Lindstrand says.
This text is based on a longer article published by Karolinska University Hospital.
What is a hackathon?
A hackathon is an event where people gather for a limited time – often 24 to 48 hours – to collectively analyse a problem and test novel solutions.