ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 182 papers, 1 of them a synthesis that pooled it.
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Who cites it
182 citing papers in PubMed, 1 synthesis or guideline pooled it, 287 citations in OpenAlex.
- Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.The Journal of allergy and clinical immunology · 2022Pooled it
- Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.Journal of medical genetics · 2019Trial
- Personalized genomic disease risk of volunteers.Proceedings of the National Academy of Sciences of the United States of America · 2013Trial
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- MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred.Cerebellum (London, England) · 2026Observational
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
- VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants.PLoS computational biology · 2025Article
- Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases.NPJ digital medicine · 2025Article
- RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.Molecular genetics and metabolism · 2025Article
- Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.Human genetics · 2024Article
- Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.NPJ genomic medicine · 2024Article
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.Orphanet journal of rare diseases · 2024Article
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders.medRxiv : the preprint server for health sciences · 2024Article
- Rare diseases: challenges and opportunities for research and public health.Nature reviews. Disease primers · 2024Article
- AbioRxiv : the preprint server for biology · 2024Article
- Adult-onset neurodegeneration in XMEN disease.Journal of neuroimmunology · 2024Article
- Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing.Frontiers in 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
122 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 5 institutions in 1 country.
Funding
Abstract
purposeThis report describes the National Institutes of Health Undiagnosed Diseases Program, details the Program's application of genomic technology to establish diagnoses, and details the Program's success rate during its first 2 years.
methodsEach accepted study participant was extensively phenotyped. A subset of participants and selected family members (29 patients and 78 unaffected family members) was subjected to an integrated set of genomic analyses including high-density single-nucleotide polymorphism arrays and whole exome or genome analysis.
resultsOf 1,191 medical records reviewed, 326 patients were accepted and 160 were admitted directly to the National Institutes of Health Clinical Center on the Undiagnosed Diseases Program service. Of those, 47% were children, 55% were females, and 53% had neurologic disorders. Diagnoses were reached on 39 participants (24%) on clinical, biochemical, pathologic, or molecular grounds; 21 diagnoses involved rare or ultra-rare diseases. Three disorders were diagnosed based on single-nucleotide polymorphism array analysis and three others using whole exome sequencing and filtering of variants. Two new disorders were discovered. Analysis of the single-nucleotide polymorphism array study cohort revealed that large stretches of homozygosity were more common in affected participants relative to controls.
conclusionThe National Institutes of Health Undiagnosed Diseases Program addresses an unmet need, i.e., the diagnosis of patients with complex, multisystem disorders. It may serve as a model for the clinical application of emerging genomic technologies and is providing insights into the characteristics of diseases that remain undiagnosed after extensive clinical workup.
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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.