Duncan NRI Faculty and Staff Publications
Language
English
Publication Date
11-1-2024
Journal
Nature Genetics
DOI
10.1038/s41588-024-01941-1
PMID
39433890
PMCID
PMC12198426
PubMedCentral® Posted Date
6-26-2025
PubMedCentral® Full Text Version
Author MSS
Abstract
The first-ever Undiagnosed Hackathon was a groundbreaking event held by the Wilhelm Foundation, the Karolinska Undiagnosed Disease Program, and PhenoTips in collaboration with UDNI to solve medical mysteries and advance diagnostics for undiagnosed rare diseases. Nearly 100 healthcare professionals and researchers from 28 countries participated, working intensively for 48 hours to diagnose 10 families with undiagnosed rare diseases. This innovative approach to precision diagnostics highlighted the power of international, multidisciplinary collaboration and patient partnership, yielding promising results for patients seeking answers and benefiting the entire rare diseases community.
Keywords
are disease diagnostics, undiagnosed diseases, genomic medicine, international collaboration, interdisciplinary research
Published Open-Access
yes
Recommended Citation
Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; et al., "Pushing the Boundaries of Rare Disease Diagnostics With the Help of the First Undiagnosed Hackathon" (2024). Duncan NRI Faculty and Staff Publications. 160.
https://digitalcommons.library.tmc.edu/duncar_nri_pub/160
Included in
Genetic Phenomena Commons, Medical Genetics Commons, Neurology Commons, Neurosciences Commons