Indian Undiagnosed Diseases Program (I-UDP) — The Unmet Need
Sign Up to like & getrecommendations! Published in 2022 at "Indian Pediatrics"
DOI: 10.1007/s13312-022-2464-y
Abstract: Genomics is an integral part of many pediatric diseases spanning all sub-specialities. While many genetic disorders are diagnosed with the currently available genomic tests, there still are many patients who do not receive a definitive… read more here.
Keywords: indian undiagnosed; diseases program; undiagnosed diseases; udp unmet ... See more keywords
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.08.010
Abstract: Rare diseases affect millions of people worldwide, and discovering their genetic causes is challenging. More than half of the individuals analyzed by the Undiagnosed Diseases Network (UDN) remain undiagnosed. The central hypothesis of this work… read more here.
Keywords: diseases network; gene pairs; undiagnosed diseases; gene ... See more keywords
Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network
Sign Up to like & getrecommendations! Published in 2018 at "Clinical and Translational Science"
DOI: 10.1111/cts.12512
Abstract: In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP)1,2 was established to provide answers for patients with conditions that had long eluded diagnosis. Based on the success of the UDP, the NIH… read more here.
Keywords: diseases network; network; implementing single; single institutional ... See more keywords
What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
Sign Up to like & getrecommendations! Published in 2022 at "Annual review of medicine"
DOI: 10.1146/annurev-med-042120-014904
Abstract: Genetic testing has undergone a revolution in the last decade, particularly with the advent of next-generation sequencing and its associated reductions in costs and increases in efficiencies. The Undiagnosed Diseases Network (UDN) has been a… read more here.
Keywords: genomic testing; network taught; undiagnosed diseases; diseases network ... See more keywords
Characteristics of undiagnosed diseases network applicants: implications for referring providers
Sign Up to like & getrecommendations! Published in 2018 at "BMC Health Services Research"
DOI: 10.1186/s12913-018-3458-2
Abstract: BackgroundThe majority of undiagnosed diseases manifest with objective findings that warrant further investigation. The Undiagnosed Diseases Network (UDN) receives applications from patients whose symptoms and signs have been intractable to diagnosis; however, many UDN applicants… read more here.
Keywords: diseases network; subjective symptoms; accepted applications; undiagnosed diseases ... See more keywords
Initiating an undiagnosed diseases program in the Western Australian public health system
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0619-z
Abstract: BackgroundNew approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic… read more here.
Keywords: public health; undiagnosed diseases; health; diseases program ... See more keywords
Patient perspectives on whole-genome sequencing for undiagnosed diseases.
Sign Up to like & getrecommendations! Published in 2017 at "Personalized medicine"
DOI: 10.2217/pme-2016-0050
Abstract: This study assessed perspectives on whole-genome sequencing (WGS) for rare disease diagnosis and the process of receiving genetic results. Semistructured interviews were conducted with adult patients and parents of minor patients affected by idiopathic diseases… read more here.
Keywords: patient perspectives; whole genome; perspectives whole; undiagnosed diseases ... See more keywords
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Public Health"
DOI: 10.3389/fpubh.2023.1079601
Abstract: Introduction Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the… read more here.
Keywords: health; network international; undiagnosed diseases; diseases network ... See more keywords