In this section, documents on Undiagnosed Rare Diseases and UDNI (papers, manual of operations, SOPs, information on ongoing activities, etc.) are reported.
The UDN Manual of Operations is a handbook that details the network’s research conduct and protocols in order to facilitate consistent adherence across all institutions participating in the study.
Please contribute to this section sending us documents and articles regarding UND.
Low Middle Income Countries and undiagnosed rare diseases
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
https://pubmed.ncbi.nlm.nih.gov/36935719/
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
https://pubmed.ncbi.nlm.nih.gov/37822540/
Analytics
Surfacing undiagnosed disease: consideration, counting and coding
https://www.frontiersin.org/articles/10.3389/fped.2023.1283880/full
Personalised analytics for rare disease diagnostics
https://pubmed.ncbi.nlm.nih.gov/31754101/
A flexible computational pipeline for research analyses of unsolved clinical exome cases
https://pubmed.ncbi.nlm.nih.gov/33303739/
Indigenous
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations
https://pubmed.ncbi.nlm.nih.gov/33381478/
Implementation and Work Design
The Undiagnosed Diseases Network International: Five years and more!
https://pubmed.ncbi.nlm.nih.gov/32033911/
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00883-8
SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program
https://pubmed.ncbi.nlm.nih.gov/33072663/
HPO in 2021
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
https://www.jacionline.org/article/S0091-6749(21)00732-6/abstract
The Human Phenotype Ontology in 2021
https://pubmed.ncbi.nlm.nih.gov/33264411/
Not open access
Consideration of a Legislative Framework to Support the Diagnostic Odyssey Commonly Encountered in the Instance of Rare Disease
https://pubmed.ncbi.nlm.nih.gov/32406626/
Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data
https://pubmed.ncbi.nlm.nih.gov/32251390/
Case reports
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
https://pubmed.ncbi.nlm.nih.gov/32959051/
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
https://pubmed.ncbi.nlm.nih.gov/30740127/
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
https://pubmed.ncbi.nlm.nih.gov/29891882/
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity
https://pubmed.ncbi.nlm.nih.gov/31646703/
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab
https://pubmed.ncbi.nlm.nih.gov/31532840/
Word design
Genome project aims to diagnose patients with rare diseases
Undiagnosed Disease Program (UDP)
International Joint Recommendations to Address Specific Needs Of Undiagnosed Rare Disease Patients
Diagnosing rare diseases: A sociotechnical approach to the design of complex work systems
https://www.sciencedirect.com/science/article/abs/pii/S0003687020300582?via%3Dihub
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
https://pubmed.ncbi.nlm.nih.gov/30248891/
Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.
https://pubmed.ncbi.nlm.nih.gov/29214564/
Capturing Team Dynamics in the Wild: The Communication Analysis Tool
https://journals.sagepub.com/doi/10.1177/1046496420904126