 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 |
|---|
| 2007 | 0 | 1 | 1 | | 2011 | 1 | 0 | 1 | | 2017 | 0 | 1 | 1 | | 2019 | 1 | 1 | 2 | | 2020 | 1 | 0 | 1 | | 2021 | 0 | 1 | 1 | | 2022 | 2 | 0 | 2 |
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Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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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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Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022 06; 24(6):1336-1348.
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Lantos JD. Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children. J Pediatr. 2021 10; 237:13-15.
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Bonder MJ, Smail C, Gloudemans MJ, Fr?sard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE, Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet. 2021 03; 53(3):313-321.
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Hartin SN, Means JC, Alaimo JT, Younger ST. Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics. Mol Med. 2020 11 25; 26(1):117.
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Lewiecki EM, Bilezikian JP, Kagan R, Krakow D, McClung MR, Miller PD, Rush ET, Shuhart CR, Watts NB, Yu EW. Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases. J Clin Densitom. 2020 Jan - Mar; 23(1):1-20.
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Fr?sard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med. 2019 06; 25(6):911-919.
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Becker ML, Funk RS. Reverse Translation in Advancing Pharmacotherapy in Pediatric Rheumatology: A Logical Approach in Rare Diseases with Limited Resources. Clin Transl Sci. 2018 03; 11(2):106-108.
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Fallon SC, Langer JC, St Peter SD, Tsao K, Kellagher CM, Lal DR, Whitehouse JS, Diesen DL, Rollins MD, Pontarelli E, Malek MM, Iqbal CW, Upperman JS, Leys CM, Wulkan ML, Hill SJ, Blakely ML, Kane TD, Wesson DE. Congenital H-type tracheoesophageal fistula: A multicenter review of outcomes in a rare disease. J Pediatr Surg. 2017 Nov; 52(11):1711-1714.
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Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev Mol Diagn. 2011 Nov; 11(8):855-68.
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