 Rare Diseases
"Rare Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
| Descriptor ID |
D035583
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| MeSH Number(s) |
C23.550.291.906
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| Concept/Terms |
Rare Diseases- Rare Diseases
- Disease, Rare
- Diseases, Rare
- Rare Disease
Orphan Diseases- Orphan Diseases
- Disease, Orphan
- Diseases, Orphan
- Orphan Disease
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Below are MeSH descriptors whose meaning is more general than "Rare Diseases".
Below are MeSH descriptors whose meaning is more specific than "Rare Diseases".
This graph shows the total number of publications written about "Rare Diseases" by people in this website by year, and whether "Rare Diseases" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 0 | 1 | 1 | | 2019 | 2 | 1 | 3 | | 2020 | 1 | 0 | 1 | | 2021 | 0 | 2 | 2 | | 2022 | 2 | 0 | 2 | | 2023 | 2 | 0 | 2 | | 2024 | 6 | 0 | 6 | | 2025 | 0 | 1 | 1 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Means JC, Martinez-Bengochea AL, Louiselle DA, Nemechek JM, Perry JM, Farrow EG, Pastinen T, Younger ST. Rapid and scalable personalized ASO screening in patient-derived organoids. Nature. 2025 Feb; 638(8049):237-243.
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Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung WA, Johnston JJ, Barrett C, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nat Commun. 2024 Sep 18; 15(1):8196.
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Stetson A, Saluja S, Cameron DB, Mansfield SA, Polites SF, Honeyman JN, Dahl JP, Austin MT, Aldrink JH, Christison-Lagay ER. Surgical management of rare tumors (Part 1). Pediatr Blood Cancer. 2025 Apr; 72 Suppl 2:e31287.
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Cohen ASA, Berrios CD, Zion TN, Barrett CM, Moore R, Boillat E, Belden B, Farrow EG, Thiffault I, Zuccarelli BD, Pastinen T. Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations. Am J Hum Genet. 2024 05 02; 111(5):825-832.
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Barrett C, Berrios C. Downstream Exclusion in Rural Rare Disease Precision Medicine Research. Am J Bioeth. 2024 Mar; 24(3):106-108.
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Groza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, Pastinen T. Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nat Commun. 2024 Jan 22; 15(1):657.
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Berrios C, McBeth M, Bradley-Ewing A, Schuetz N, Campbell A, Talebizadeh Z, Garrett JR, Falicov T, Martinez F, Hurley EA. Developing a community-led rare disease ELSI research agenda. Orphanet J Rare Dis. 2024 Jan 22; 19(1):23.
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Strenk ME, Berrios C, Garrett JR. Addressing the Burdens That Newborn Screening Imposes on Underserved Communities. Am J Bioeth. 2023 07; 23(7):79-82.
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Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, Johnston JJ, Gibson M, Evrony G, Rizzo WB, Thiffault I, Younger ST, Curran T, Wenger AM, Grundberg E, Pastinen T. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort. Nat Commun. 2023 05 29; 14(1):3090.
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McQuerry JA, Mclaird M, Hartin SN, Means JC, Johnston J, Pastinen T, Younger ST. Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients. Sci Rep. 2022 05 09; 12(1):7576.
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