From May 24-26, PNRI hosted its first-ever Rare Disease Hackathon. For three dynamic days, participants immersed themselves in the world of rare diseases. Their mission: uncover disease-causing genetic variants in molecularly unresolved rare disease families.
For this international team, PNRI’s hackathon offered dedicated time to dive deeper into the data and gave attendees the opportunity to learn and apply new genetic analysis methods.
Most of the samples the hackathon team analyzed were collected from patients a decade ago and recently sequenced using genome sequencing methodology. Many of those affected individuals are now school-aged children with conditions like microcephaly, immunodeficiency disorders, and neurodevelopmental disorders. Having an undiagnosed condition poses significant challenges to access effective medical care for these and other patients since many treatments rely on understanding the specific genetic or molecular basis of a condition. Without a diagnosis, targeted treatments are not accessible.
