ArticleMolecular genetics and metabolism2016
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Article in Molecular genetics and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 111 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
111 citing papers in PubMed, 160 citations in OpenAlex.
- Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.Journal of medical genetics · 2019Trial
- Artificial intelligence for pediatric rare disease diagnosis: a multimethod study integrating published evidence and clinician interviews.BMC medical informatics and decision making · 2026Article
- Outcome strategies for clinical trials in Neuropaediatric rare diseases.Neuroscience applied · 2026Review
- Development of self-phenotyping tools to empower patients and improve diagnostics.EBioMedicine · 2025Article
- Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases.Orphanet journal of rare diseases · 2025Article
- Precision in Facial Measurements: Comparative Analysis Between a Digital 3D Scanner and an Analog Instrument.Dentistry journal · 2025Article
- Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil.Journal of community genetics · 2025Article
- Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.JIMD reports · 2025Article
- Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.Human genetics · 2024Article
- Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.American journal of human genetics · 2024Article
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.Orphanet journal of rare diseases · 2024Article
- A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.International journal of molecular sciences · 2024Article
- AbioRxiv : the preprint server for biology · 2024Article
- Adult-onset neurodegeneration in XMEN disease.Journal of neuroimmunology · 2024Article
- A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.American journal of human genetics · 2024Article
- Calciphylaxis in POEMS syndrome: Case report.Rare (Amsterdam, Netherlands) · 2024Article
- International Undiagnosed Diseases Programs (UDPs): components and outcomes.Orphanet journal of rare diseases · 2023Review
- Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.The Journal of pediatrics · 2023Article
51 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
introductionThe inability of some seriously and chronically ill individuals to receive a definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed Diseases Program (UDP) was established to provide answers to patients with mysterious conditions that long eluded diagnosis and to advance medical knowledge. Patients admitted to the NIH UDP undergo a five-day hospitalization, facilitating highly collaborative clinical evaluations and a detailed, standardized documentation of the individual's phenotype. Bedside and bench investigations are tightly coupled. Genetic studies include commercially available testing, single nucleotide polymorphism microarray analysis, and family exomic sequencing studies. Selected gene variants are evaluated by collaborators using informatics, in vitro cell studies, and functional assays in model systems (fly, zebrafish, worm, or mouse). INSIGHTS FROM THE UDP: In seven years, the UDP received 2954 complete applications and evaluated 863 individuals. Nine vignettes (two unpublished) illustrate the relevance of an undiagnosed diseases program to complex and common disorders, the coincidence of multiple rare single gene disorders in individual patients, newly recognized mechanisms of disease, and the application of precision medicine to patient care.
conclusionsThe UDP provides examples of the benefits expected to accrue with the recent launch of a national Undiagnosed Diseases Network (UDN). The UDN should accelerate rare disease diagnosis and new disease discovery, enhance the likelihood of diagnosing known diseases in patients with uncommon phenotypes, improve management strategies, and advance medical research.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.