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How The Undiagnosed Hackathon is Driving Rare Disease Diagnoses

A summary of the Speaker Series webinar featuring past and future organizers of the innovative and collaborative event driving rare disease diagnosis, the Undiagnosed Hackathon.

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Published on September 19th, 2025

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A grid of the headshots of Helene Cederroth, a white woman with grey hair, Dr. Wendy van Zelst-Stams, a blonde white woman, Dr. Eric Klee, a white man with brown hair, Dr. Angelica Delgado Vega, a brown woman with brown hair, and Dr. Orion Buske, a white man with brown hair, glasses, and a trim beard.

Undiagnosed disease affects 350 million individuals globally, forcing patients and their families into long diagnostic odysseys. In a webinar hosted by PhenoTips, past and future organizers of the innovative Undiagnosed Hackathon initiative discussed the annual event’s profound impact in driving rare disease diagnosis through collaboration and innovation.

The webinar included Helene Cedderoth, Founder of the Wilhelm Foundation and Co-Founder of the Undiagnosed Diseases Network Foundation (UDNF), and Dr. Wendy van Zelst-Stams, Clinical Geneticist and Head of Human Genetics and Clinical Genetics at both Radboud University Medical Center and Maastricht University Medical Center. Helene and Wendy were joined by Dr. Angelica Delgado-Vega, consultant in clinical genetics at Karolinska University Hospitals and coordinator for the Undiagnosed Diseases Network Sweden, as well as Dr. Eric Klee, consultant at Mayo Clinic and co-host of the upcoming 2025 Undiagnosed Hackathon. The event was hosted by PhenoTips Co-Founder Orion Buske, a past organizer of the Undiagnosed Hackathon event and specialist in algorithms for rare disease matchmaking.

Watch the complete discussion

Stream the complete discussion with past and future organizers of the Undiagnosed Hackathon

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How the Undiagnosed Hackathon Works

For the hundreds of million of individuals living with undiagnosed diseases, receiving a diagnosis may seem impossible. Advances in genomic sequencing have improved diagnostic rates, but 60% of cases remain unsolved, complicated by the rare nature of diseases that may be seen in only a handful of cases spread out around the world.

The Undiagnosed Hackathon is an annual initiative founded by the Wilhelm Foundation that has brought organizations and international experts together over the past two years. During the intensive 48-hour event, researchers, clinicians, data scientists, and other experts in genetics and bioinformatics from around the globe unite to solve the world’s medical mysteries. 

Prior to the event, organizers gather a variety of data from participating patients and their families facing complex, unsolved cases. Once the Hackathon begins, participants are divided into multidisciplinary teams and given access to shared datasets and tools to analyze patient information. The Hackathon provides a new opportunity to revisit these cases with fresh perspectives and international, multidisciplinary collaboration.

“Each team is composed of people from all around the world from different disciplines. In each team we make sure there are professors to PhD students, and from clinicians to researchers in order to bring all perspectives to the table.”

Driving Principles, Goals, and Outcomes of the Undiagnosed Hackathons

The Undiagnosed Hackathon has collaboration and innovation at its core. Its driving principle is to bring a variety of experts from around the world to share their interdisciplinary knowledge towards solving complex cases. 

The Undiagnosed Hackathon’s goal is to accelerate diagnosis for patients who have spent years trying to navigate uncertainty and inconclusive answers. Over the past two years, the Hackathon has fostered a spirit of open data sharing and teamwork, enabling participants to analyze genomic data, phenotype information, and medical records in a highly collaborative environment. 

Beyond individual diagnoses achieved during the event, the Hackathon has been successful in producing ongoing international collaboration, generating new research insights, and advancing tools that continue to benefit the rare disease community even after the event comes to an end.

The Power of Global Collaboration

Global collaboration is a core principle for the Hackathon. A variety of different perspectives are brought to the table from participants that come from different countries and specialities within the genetics, medical, and bioinformatics field. Additionally, teams are intentionally built to have varied disciplines and cultural view points.

As Dr. Angelica Delgado-Vega states “Each team is composed of people from all around the world from different disciplines. In each team we make sure there are professors to PhD students, and from clinicians to researchers in order to bring all perspectives to the table.” 

By pooling knowledge and resources, participants uncover potential genetic causes that might otherwise go unnoticed. Multinational collaboration increases the diversity of clinical perspectives, leading to more accurate interpretations of complex symptoms.

What’s more, the hackathon creates a positive professional network which enables experts to continue discussing cases and exchanging knowledge well after the event. These newly formed connections are beneficial in strengthening the global rare disease community. In turn, faster, more coordinative responses to future challenges are now possible. 

Importantly, the collaborative environment empowers participants to learn new techniques and methodologies from their peers, improving their diagnostic capabilities for the patients and communities they serve long-term.

How Families Motivate Diagnosis

Another powerful aspect of the Undiagnosed Hackathon is the presence of patients and families seeking diagnosis. Beginning at the first Hackathon, it has become tradition for some of the affected families and patients to attend the event. While clinicians frequently interact with patients and directly hear their stories, many participants of the hackathon on the technical or research side of genetics rarely get to see the direct impact of their work. 

As Dr. Wendy van Zelst-Stams explains, “If you are there and you see those patients and [hear] parents sharing their story, struggles, what they’ve encountered, and why they feel the importance of this hackathon, you then get an energy that you want to go into those rooms and look at the data. You want to diagnose these patients.” 

Meeting these families in person brings the work to life, transforming what is often abstract data analysis into a tangible mission. This reminds every participant that behind each dataset is a real person and family waiting for answers, driving collaboration and determination throughout the event.

PhenoTips’ Role in Future Hackathons

In previous years, PhenoTips has been a strong supporter of the Undiagnosed Hackathon. In fact, its Co-Founder and CEO Dr. Orion Buske served as MC for the first event. 

In addition to providing support for the hackathon, the PhenoTips team is working to integrate its software into events in the future, including the upcoming 2025 hackathon. The goal is to provide a structured platform for all participants to seamlessly access and work with patient information. 

Using PhenoTips, the hackathon could gather relevant data including detailed family histories and phenotypes as Human Phenotype Ontology (HPO) terms for each patient. Additionally, research groups could be set up on a secure research cloud, allowing all collaborators to analyze data in a structured, organized way. 

PhenoTips playing a more active role in upcoming hackathons would streamline collaboration and data organization, making it easier for participants to navigate complex patient information and accelerate diagnostic discoveries.

The Future of the Undiagnosed Hackathon

As the 2025 Undiagnosed Hackathon hosted by the Mayo Clinic in Rochester, Minnesota approaches, we are reminded of the power of collaboration towards a common goal.

The Undiagnosed Hackathon has given hope to many individuals and families in the rare disease community. Additionally, the event has proven to be a powerful force for collaboration and innovation.

By bringing together experts from around the world and directly involving patients and their families, the event fosters a unique environment where breakthroughs can happen in real-time. 

With plans to integrate PhenoTips into future hackathons, the potential for faster, more organized, and more impactful diagnoses only grows stronger. As technology advances and collaboration deepens, events like this continue to push the boundaries of what’s possible in rare disease diagnosis, bringing patients closer to the life-saving answers they’ve been seeking for years.

Watch the complete discussion

Stream the full conversation with past and future organizers of the Undiagnosed Hackathon, available on-demand for free.

Watch the webinar
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