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

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