The Undiagnosed Hackathon: Driving Diagnosis Through Global Collaboration

Helene Cederroth is the Founder and President of the Wilhelm Foundation, dedicated to ending the diagnostic odyssey for People Living with Undiagnosed Diseases (PLWUD) worldwide, with a special focus on Low- and Middle-Income Countries. She is the co-founder and board member of the Undiagnosed Diseases Network International (UDNI) and co-founder of the Undiagnosed Diseases Network Foundation (UDNF). Helene has co-arranged 13 UDNI Conferences and co-organizes the Undiagnosed Hackathon events. Helene is the pioneer behind the Undiagnosed Hackathon, the global Undiagnosed Day on April 29, and the Champion Initiative in LMIC.

Wendy van Zelst-Stams is a clinical geneticist and head of the dept. of Human Genetics and Clinical Genetics of both Radboud University Medical Center in Nijmegen and Maastricht University Medical Center, Maastricht, the Netherlands. In 2021, she was appointed as professor in “Care for Rare”. She is the national coordinator for the designation of centers of expertise for rare diseases according to the Dutch national plan on rare diseases. She is one of the two Dutch representatives in the board of Member States of the European Reference Networks for rare diseases at the European Commission, DG Sante, and member of the Undiagnosed Diseases International Network. In 2024 she hosted the 2nd Undiagnosed Hackathon initiated by the Wilhelm Foundation.

With a passion for understanding the genetic basis of complex pediatric syndromes, Angelica Delgado-Vega works as a consultant in clinical genetics at Karolinska University Hospital and a postdoctoral researcher at Karolinska Institute in Sweden, blending expertise in dysmorphology and innovative diagnostic tools. At the Undiagnosed Diseases Network Sweden, she coordinates the diagnostic process for undiagnosed cases using whole-genome sequencing, RNA sequencing, and long-read sequencing. In collaboration with the Wilhelm Foundation and PhenoTips, she co-organized the first Undiagnosed Hackathon, an innovative global multidisciplinary event that serves as a model for enhancing rare disease diagnostics.

Dr. Eric Klee is a consultant – research in the Division of Computational Biology, Department of Quantitative Health Sciences, at Mayo Clinic in Rochester, Minnesota, with joint appointments in the Department of Clinical Genomics and Department of Laboratory Medicine and Pathology. He is the Science Director of Research Data and Digital Integration for Mayo Clinic. Dr. Klee is the Everett J. and Jane M. Hauck Midwest Associate Director of Research and Innovation, Center for Individualized Medicine, where he also serves as director of the Bioinformatics Program, Translational Omics Program, and Omics Data Platform. Additionally, he serves on the Board of Directors for the Undiagnosed Disease Network International, actively leads the Mayo Clinic Omics Data Platform, and is an active member of the Informatics Subdivision, Training & Education Committee member for the Association of Molecular Pathology. Alongside the Wilhelm Foundation, Dr. Klee is organizing and hosting the 2025, 3rd annual Undiagnosed Hackathon at the Mayo Clinic in Rochester, Minnesota, USA.

In this webinar recording, the international panel discusses:

• International barriers to rare disease diagnosis
• Global collaboration as a method to drive diagnosis
• Driving principals, goals, and outcomes of the Undiagnosed Hackathons
• Resources, methods, and technologies to facilitate collaborative diagnosis