Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article 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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12198426PMC
http://dx.doi.org/10.1038/s41588-024-01941-1DOI Listing

Publication Analysis

Top Keywords

rare diseases
12
undiagnosed hackathon
8
undiagnosed rare
8
undiagnosed
5
pushing boundaries
4
rare
4
boundaries rare
4
rare disease
4
disease diagnostics
4
diagnostics help
4

Similar Publications

It has become evident from decades of clinical trials that multimodal therapeutic approaches with focus on cell intrinsic and microenvironmental cues are needed to improve understanding and treat the rare, inoperable, and ultimately fatal diffuse intrinsic pontine glioma (DIPG), now categorized as a diffuse midline glioma. In this study we report the development and characterization of an in vitro system utilizing 3D Tumor Tissue Analogs (TTA), designed to replicate the intricate DIPG microenvironment. The innate ability of fluorescently labeled human brain endothelial cells, microglia, and patient-derived DIPG cell lines to self-assemble has been exploited to generate multicellular 3D TTAs that mimic tissue-like microstructures, enabling an in- depth exploration of the spatio-temporal dynamics between neoplastic and stromal cells.

View Article and Find Full Text PDF

The European Reference Network eUROGEN, an interview by the Journal of Pediatric Urology.

J Pediatr Urol

August 2025

Department of Pediatric Surgery, Rigshospitalet, Clinical Medicine, Copenhagen University, Copenhagen, Denmark; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. Electronic address:

The European Reference Networks (ERNs) initiative was started by the European Commission. The initiative was launched in 2017 in response to the 2011 EU Directive on Cross-Border Healthcare (Directive 2011/24/EU), which emphasized the need to improve healthcare for patients with rare diseases and complex conditions across the European Union. Currently, 24 ERNs are available for rare diseases.

View Article and Find Full Text PDF

Incidence and factors associated with disability and dependency in patients with Guillain-Barré syndrome in the Region of Murcia: Population study for the period 2009-2020.

Neurologia (Engl Ed)

September 2025

Sistema de Información de Enfermedades Raras, Servicio de Planificación y Financiación Sanitaria, Consejería de Salud, Región de Murcia, Murcia, Spain.

Background: The incidence of Guillain-Barré Syndrome (GBS) is variable and is still unknown in our geographical area. Poor prognostic factors have been studied, but few have analyzed those that influence long-term results. The objective of this study is to know the incidence, characteristics and factors associated with disability and dependency in these patients from a population registry.

View Article and Find Full Text PDF

Odoribacter splanchnicus bacteremia: a rare condition associated with intestinal disease.

Anaerobe

September 2025

Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon UniversitySchool of Medicine, Itabashi-ku, Tokyo, Japan; Division of Infection Control and Prevention, Nihon UniversityItabashi Hospital, Itabashi-ku, Tokyo, Japan; Department of Clinical Laboratory, Nihon University

Odoribacter splanchnicus is an anaerobe that normally inhabits the human intestine and rarely causes infections in humans. In recent years, however, three cases of O. splanchnicus bacteremia have been reported.

View Article and Find Full Text PDF