Mission of the Undiagnosed Hackathon

The mission of the Undiagnosed Hackathon is to find new ways to solve the undiagnosed diseases that cannot be solved today.

We focus on individuals who have already undergone extensive diagnostic evaluation at an Undiagnosed Diseases Program (UDP) or equivalent—including a negative whole exome or whole genome sequencing—yet remain without a diagnosis. 

By collecting new samples and generating new data, we aim to go beyond current limitations and unlock answers that existing approaches have not been able to provide.

Why it matters

An estimated 350 million people worldwide are living with an undiagnosed disease.
While genome sequencing can provide answers for approximately 40% of People Living with Undiagnosed Diseases (PLWUD), around 60% remain without a diagnosis—often for years, decades, or a lifetime.
The Undiagnosed Hackathon is designed specifically for this 60%.

A unique model of collaboration

During this 48-hour event, multidisciplinary teams—including clinicians, geneticists, bioinformaticians, molecular biologists, scientists, AI specialists, developers, and other experts—work intensively together on the most complex unsolved cases.

By breaking down traditional silos and working side by side, collaborators combine expertise, technologies, and perspectives to discover new diagnostic pathways.

Centred around the individual

At the heart of the Undiagnosed Hackathon are the individuals living with undiagnosed diseases.
These are individuals who, despite years of investigations and the best efforts of medical and scientific experts, are still waiting for answers.

We know that when one individual receives a diagnosis, it can unlock answers for many others around the world who share similar symptoms or genetic variants.

One diagnosis can help many. A new way can help a magnitude more.
 

Undiagnosed Hackathon in Singapore

The Undiagnosed Hackathon in Singapore, hosted by Wilhelm Foundation in collaboration with KK Women's and Children's hospital, Singhealth will take place September 17-20, 2026 in Singapore.

The main event of the Undiagnosed Hackathon will take place on 19–20 September, preceded by a Phenotyping course on 17 September and a Tools workshop on 18 September. The welcome dinner will kick off the experience.

This event brings together a global community of individuals—clinicians, bioinformaticians, molecular biologists, researchers, developers, AI specialists, and many more—to solve complex cases for people living with undiagnosed conditions. 

As a collaborator, you would play a key role in solving cases and to find new ways to solve the undiagnosed diseases that cannot be solved today.

During the Undiagnosed Hackathon in Signapore, we plan to analyze data from 25 children or adults from Asian Pacific region, with the goal of providing answers and potential diagnoses where none have been found before.

Over two days, collaborators will have the opportunity to engage closely with detailed clinical information, advanced genomic and transcriptome data, and state-of-the-art phenotyping tools to help examine participant cases and look for answers.  

Sequencing data will be pre-processed by the bioinformatics team as well as through partner
platforms.

Raw data is available for 3 months after the event for collaborators interested in
performing re-analysis.