Global Hackathon Brings Experts Together to Diagnose Rare Diseases in Singapore

Sarah Swee, a 14-year-old girl from Singapore who is non-verbal and non-mobile, participated in an intensive 48-hour diagnostic hackathon held from Sept 19 to 20, as multidisciplinary experts worked to solve complex medical mysteries. Organized by KK Women’s and Children’s Hospital (KKH) and the Wilhelm Foundation in Sweden, the fifth edition of The Undiagnosed Hackathon gathered 140 experts from 32 countries to tackle 25 unsolved cases from Singapore, Indonesia, Malaysia, and the Philippines.

A 14-Year Search for a Medical Diagnosis

Born after 38 weeks of gestation, Sarah made a high-pitched, wheezing sound caused by a narrowed upper airway, known as stridor, and could not swallow. Her mother, Jasmine Lee, noted that Sarah suffered from facial palsy and a receded chin, requiring tube-feeding from infancy. Now 14, Sarah’s medical history includes a brain stem disorder, congenital facial nerve palsy, and severe global developmental delay. Despite undergoing multiple genetic tests, doctors have been unable to find a definitive genetic cause.

Koh Ai Ling, a geneticist with KKH, explained that rare diseases present significant diagnostic challenges because symptoms often affect different body parts and do not point neatly to a single condition. Rare diseases can be difficult to diagnose because the symptoms do not always point neatly to one particular condition, Koh said. With approximately 7,600 genetic diseases identified worldwide, doctors cannot test for every disorder, as many are uncommon enough that a clinician may never encounter them during a career.

Global Collaboration During the Undiagnosed Hackathon

To address these complex hurdles, the Undiagnosed Hackathon brings together families living with undiagnosed diseases and global specialists to collaborate side by side. The recent event at KKH marked the first time the hackathon was held in South-east Asia. Participating professionals included clinicians, geneticists, genetic counsellors, lab specialists, bioinformaticians, molecular biologists, researchers, data scientists, AI specialists, and software developers.

For the first time, proteomics—the study of proteins in the body—was integrated into the event alongside clinical, genomic, and phenotypic data. Helene Cederroth, a founder of the Wilhelm Foundation, stated that the event united 140 experts from 32 countries who may otherwise not have the chance to work together during normal circumstances. Koh noted that the collaborative format shifts the diagnostic process from a single doctor recognizing a rare disease to a multidisciplinary team combining experience and modern tools to find a plausible explanation.