NTR Focus episode highlights the first Dutch Undiagnosed Hackathon Follow the search for rare genetic disorders

The science program NTR Focus has aired an episode about the search for diagnoses for families affected by rare genetic disorders: DNA Detectives. The story centers on the first national Undiagnosed Hackathon, which brought together all Dutch University Medical Centers (UMCs).

In April, the first Dutch Undiagnosed Hackathon took place at Radboud university medical center. Under the umbrella of UMCNL, 140 specialists from all Dutch UMCs came together, including physicians, researchers, and experts in data science, bioinformatics, and artificial intelligence. Working like detectives, they collaborated to find diagnoses for 33 Dutch families living with rare genetic conditions.

A collaborative search

NTR Focus followed this search for answers, including the story of Mason and Tessa's family. The program also shows how new diagnoses were achieved through collaboration between specialists from different fields of expertise. You can watch the episode here.

As a result of the Hackathon, five families received a diagnosis. For eight additional families, specialists identified a suspicious genetic variant in their DNA. Further research is needed to determine whether these variants are indeed responsible for the conditions.

Bigger pieces of the puzzle

In addition to the combined expertise of so many specialists, a new technology played an important role in achieving these diagnoses: long-read sequencing. This technique allows researchers to read much longer stretches of DNA than was previously possible. As a result, they can assemble a patient's complete genome more easily and detect genetic changes that may cause rare diseases with greater accuracy.

UMCNL plans to organize the Dutch Undiagnosed Hackathon more frequently in the coming years. By combining the expertise of a large multidisciplinary team with the latest technologies, even more diagnoses are expected to be made. Clinical geneticist Wendy van Zelst: ‘This is hopefully the first of many. It would be wonderful if, through initiatives like this, we can help many more families finally receive the diagnosis they have been waiting for for so long.’

The next Dutch Undiagnosed Hackathon will take place at Amsterdam UMC on 15 and 16 April 2027

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