Living with an undiagnosed disease poses great challenges for both individuals and families. Through initiatives like UDN Sweden and the world’s first Undiagnosed Hackathon for undiagnosed rare diseases, national and international expertise is coming together to solve the riddles behind these complex conditions – and bring a long-awaited diagnosis to more people.
Living with an undiagnosed disease often poses major challenges – not only in care but also in community support. Thanks to technological advances such as whole genome sequencing, more individuals with suspected rare health conditions have been diagnosed in recent years. But despite this, only up to 40% of individuals receive a diagnosis. To change this, collaboration and innovation are needed.
International network and Swedish initiative for undiagnosed diseases
Ann Nordgren. Photo: Cecilia Österholm Corbascio.
The global Undiagnosed Diseases Network International (UDNI) brings together experts from around the world to share knowledge and data to solve more cases of undiagnosed diseases. The Undiagnosed Diseases Programme Karolinska (UDP Karolinska) has been part of UDNI since 2017. In 2023 UDN Sweden was established, where Swedish researchers, clinicians and the Wilhelm Foundation collaborate. The focus is to give children with rare syndromes access to whole genome sequencing regardless of where in Sweden they live.
“It’s about gathering information from families and experts from many areas to think new and reach further,” says Ann Nordgren, professor and senior consultant in clinical genetics at Karolinska University Hospital/Karolinska Institutet and Sahlgrenska Academy.
The world’s first Undiagnosed Hackathon for rare diseases
Helene Cederroth. Photo: private.
In the summer of 2023, a groundbreaking hackathon was held in Stockholm, the first Undiagnosed Hackathon (see box). Nearly 100 experts from around the world came together for 48 intense hours to help 13 children from 10 families get a diagnosis. Some of the children participated with their families, and the event was a unique meeting between researchers, clinicians and the families. During these days, four of the children were diagnosed. The results of the first Undiagnosed Hackathon were published in Nature Genetics in October 2024.
The idea was born during a dinner at the UDNI World Congress 2022, says Helene Cederroth, founder of the Wilhelm Foundation.
“We realised that a hackathon could bring together the power of global expertise and accelerate the development of new diagnostic tools. It was great to see what we could achieve together.”
Håkan Thonberg. Photo: private.
In addition to whole genome sequencing, methods such as long-read sequencing and RNA sequencing were used to analyse samples and visualise data in new ways.
“We became extremely solution-oriented and found new ways to work together. The global network and approach we created is something I take with me in my daily work,” says Håkan Thonberg, hospital geneticist at Karolinska University Hospital.
Innovation and collaboration across borders
The Undiagnosed Hackathon was not only a way to help the participating families, but also a platform for long-term collaboration and an acknowledgement of the interdisciplinary collaboration that has started within GMS UDN Sweden and the next steps to be taken, says Angelica Delgado-Vega, physician and researcher at Karolinska University Hospital/Karolinska Institutet.
Angelica Delgado-Vega. Photo: Cecilia Österholm Corbascio.
“It was a great experience to organise and participate in the hackathon. Despite the hard work, we were not discouraged and are organising a national GMS UDN Sweden Hackathon here in Sweden on 5-6 February,” says Angelica.
International cooperation is also important to support countries with fewer resources.
“In low- and middle-income countries, there is often a lot of expertise, but a lack of infrastructure hinders development. The Undiagnosed Hackathon was important to accelerate further work in these countries,” Angelica continues.
Focus on the individual
An important aspect of the work of UDN Sweden is to see the person behind the disease.
“For us, it’s important to talk about individuals living with undiagnosed diseases, not just “patients”. It’s about seeing the whole person,” says Helene.
Thanks to efforts such as the Undiagnosed Hackathon and the international collaboration within UDNI and national collaboration within UDN Sweden and GMS, we are taking steps towards the goal of giving more people a diagnosis – and thus the opportunity for better care, support and understanding.
UDN Sweden
- UDN Sweden is a multidisciplinary network consisting of healthcare professionals and researchers from the country’s universities and university hospitals, such as specialist doctors with different expertise, nurses, genetic counsellors, molecular biologists, hospital geneticists, bioinformaticians, and administrative staff, working in close collaboration with patient organisations.
- UDN Sweden is supported with funds from the Ministry of Social Affairs
- UDN Sweden is part of Genomic Medicine Sweden’s work in rare diseases and is coordinated by the Undiagnosed Diseases Programme Karolinska (UDP Karolinska).
Read more about UDN Sweden.
Undiagnosed Hackathon 2023
- Undiagnosed Hackathon is organised annually since 2023 by the Wilhelm Foundation in collaboration with UDNI and local UDPs around the world.
- Undiagnosed Hackathon 2023 was organised by UDP Karolinska, Wilhelm Foundation and PhenoTips in collaboration with UDNI.
- Undiagnosed Hackathon 2023 in Stockholm was the first hackathon for undiagnosed rare diseases.
- The Undiagnosed Hackathon model is an innovative model for knowledge transfer, diagnostic development, global and multidisciplinary collaboration and patient partnership.
- The Undiagnosed Hackathon 2024 was organised by the Wilhelm Foundation together with Radboud University Medical Center, the Netherlands. The next Undiagnosed Hackathon 2025 will take place in collaboration with the Mayo Clinic in the USA.
Read more about Undiagnosed Hackathon.
Publication
”Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon”. Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD, Wirta W, Lindstrand A, Buske OJ, Cederroth M, Nordgren A. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1.
Image: Group photo Undiagnosed Hackathon 2023. Photo: Jacob Grange/Wilhelm Foundation.