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“As of January 2023, the DrugCentral database contains 2331 FDA-approved human drugs associated with 2644 drug indications and 866 off-label uses (47).”
From Artificial Intelligence for Drug Discovery: Are We There Yet? (2024) · cites this paper as [47]
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Unexplored therapeutic opportunities in the human genome
Oprea, T. I., Bologa, C. G., Brunak, S., Campbell, A., Gan, G. N., Gaulton, A., Gomez, S. M., Guha, R., Hersey, A., Holmes, J., et al. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2018.14 · Cited by 378
Self-citationTherapies for rare diseases: therapeutic modalities, progress and challenges ahead
Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0049-9 · Cited by 357
Self-citationClassification, Ontology, and Precision Medicine
Haendel, M. A., Chute, C. G., & Robinson, P. N. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1615014 · Cited by 324
Self-citationErratum: Unexplored therapeutic opportunities in the human genome
Oprea, T. I., Bologa, C., Brunak, S., Campbell, A., Gan, G. N., Gaulton, A., Gomez, S. M., Guha, R., Hersey, A., Holmes, J., et al. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2018.52 · Cited by 303
Self-citationA Census of Disease Ontologies
Haendel, M. A., McMurry, J. A., Relevo, R., Mungall, C. J., Robinson, P. N., & Chute, C. G. (2018) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-080917-013459 · Cited by 49
Self-citationMungall, C., Koehler, S., Robinson, P. N., Holmes, I. H., & Haendel, M. A. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/048843 · Cited by 20
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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Marwaha, S., Knowles, J. W., & Ashley, E. A. (2022) · Genome Medicine · doi:10.1186/s13073-022-01026-w · Cited by 393
“About 7000 rare disorders are defined [2, 3] and many others fall under the umbrella of undiagnosed diseases.”
BackgroundTherapies for rare diseases: therapeutic modalities, progress and challenges ahead
Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0049-9 · Cited by 357
“level terms) available from the analysis described in reF.(153) and the number of orphan drugs receiving approval by the FDA”
MethodSelf-citationGA4GH: International policies and standards for data sharing across genomic research and healthcare
Rehm, H. L., Page, A. J. H., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., Barkley, M. P., Baudis, M., Beauvais, M. J. S., Beck, T., et al. (2021) · Cell Genomics · doi:10.1016/j.xgen.2021.100029 · Cited by 342
“…streamline global access to datasets generated in any country 9,10 (2) Genomic knowledge standards : Develops specifications and data models for exchanging genomic variant observations and knowledge 18 (3) Cloud : Develops federated analysis approaches to support the statistical rigor needed to…”
Self-citationIncomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
Kingdom, R., & Wright, C. F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.920390 · Cited by 318
“, 2020) of all rare diseases are genetic in origin, andmost of these are thought to bemonogenic in nature (Haendel et al., 2020).”
BackgroundArtificial Intelligence for Drug Discovery: Are We There Yet?
Hasselgren, C., & Oprea, T. I. (2024) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-040323-040828 · Cited by 236
“A systematic analysis of resources integrated into Mondo revealed nearly 10,500 unique rare diseases, in contrast to the commonly cited 7,000 figure (46).”
BackgroundSelf-citationGenomic newborn screening for rare diseases
Stark, Z., & Scott, R. H. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00621-w · Cited by 240
A roadmap for the Human Developmental Cell Atlas
Haniffa, M. A., Taylor, D. M., Linnarsson, S., Aronow, B. J., Bader, G. D., Barker, R. A., Cámara, P. G., Camp, J. G., Chédotal, A., Copp, A. J., et al. (2021) · Nature · doi:10.1038/s41586-021-03620-1 · Cited by 193
Adachi, T., El-Hattab, A. W., Jain, R., Nogales Crespo, K. A., Quirland Lazo, C. I., Scarpa, M., Summar, M., & Wattanasirichaigoon, D. (2023) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph20064732 · Cited by 168
“There are about 5000 to 8000 RDs identified globally [5], varying regarding their origins, risk factors, symptoms and treatments, and geographical dispersion [6].”
BackgroundThe national economic burden of rare disease in the United States in 2019
Yang, G., Cintina, I., Pariser, A., Oehrlein, E. M., Sullivan, J. B., & Kennedy, A. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02299-5 · Cited by 165
“It is estimated that there are more than 7000 rare diseases (RDs) affecting about 30 million Americans [1].”
Fermaglich, L. J., & Miller, K. L. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02790-7 · Cited by 134
“Now, four decades later, hundreds of “orphan” drugs have been approved for use in the 7000–10,000 diseases and conditions that are considered rare.[3].”
BackgroundFoundation Model for Advancing Healthcare: Challenges, Opportunities and Future Directions
He, Y., Huang, F., Jiang, X., Nie, Y., Wang, M., Wang, J., & Chen, H. (2024) · IEEE Reviews in Biomedical Engineering · doi:10.1109/rbme.2024.3496744 · Cited by 162
Tisdale, A., Cutillo, C. M., Nathan, R., Russo, P. A., Laraway, B. J., Haendel, M. A., Nowak, D., Hasche, C., Chan, C., Griese, E. R., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02061-3 · Cited by 111
Self-citationChan, A. Y. L., Chan, V. K. Y., Olsson, S., Fan, M., Jit, M., Gong, M., Zhang, S., Ge, M., Pathadka, S., Chung, C. C. Y., et al. (2020) · Value in Health · doi:10.1016/j.jval.2020.06.020 · Cited by 112
Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare
Smith, C. I. E., Bergman, P., & Hagey, D. W. (2022) · iScience · doi:10.1016/j.isci.2022.104698 · Cited by 115
Navarrete-Opazo, A. A., Singh, M., Tisdale, A., Cutillo, C. M., & Garrison, S. R. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01241-7 · Cited by 102
Mondo: Unifying diseases for the world, by the world
Vasilevsky, N. A., Matentzoglu, N. A., Toro, S., Flack, J. E., Hegde, H., Unni, D. R., Alyea, G. F., Amberger, J. S., Babb, L., Balhoff, J. P., et al. (2022) · doi:10.1101/2022.04.13.22273750 · Cited by 107
Self-citationRare Genetic Diseases: Nature's Experiments on Human Development
Lee, C. E., Singleton, K. S., Wallin, M., & Faúndez, V. (2020) · iScience · doi:10.1016/j.isci.2020.101123 · Cited by 104
Complex genomic rearrangements: an underestimated cause of rare diseases
Schuy, J., Grochowski, C. M., Carvalho, C. M. B., & Lindstrand, A. (2022) · Trends in Genetics · doi:10.1016/j.tig.2022.06.003 · Cited by 75
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease
Jacobsen, J. O. B., Kelly, C., Cipriani, V., Mungall, C., Reese, J., Daniš, D., Robinson, P. N., & Smedley, D. P. (2022) · Human Mutation · doi:10.1002/humu.24380 · Cited by 76
Self-citationAment, I. H., DeBruyne, N., Wang, F., & Lin, L. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.11.025 · Cited by 71
ChatGPT as a medical doctor? A diagnostic accuracy study on common and rare diseases
Mehnen, L., Gruarin, S., Vasileva, M., & Knapp, B. (2023) · doi:10.1101/2023.04.20.23288859 · Cited by 60
Clinical applications of gene therapy for rare diseases: A review
Papaioannou, I., Owen, J. S., & Yáñez‐Muñoz, R. J. (2023) · International Journal of Experimental Pathology · doi:10.1111/iep.12478 · Cited by 70
Global health for rare diseases through primary care
Baynam, G. S., Hartman, A. L., Letinturier, M. C. V., Bolz-Johnson, M., Carrion, P. B., Grady, A. C., Dong, X., Dooms, M. M., Dreyer, L., Graeßner, H., et al. (2024) · The Lancet Global Health · doi:10.1016/s2214-109x(24)00134-7 · Cited by 63
Self-citationCohen, A. M., Chamberlin, S. R., DeLoughery, T. G., Nguyen, M., Bedrick, S. D., Meninger, S. L., Ko, J. J., Amin, J., Wei, A., & Hersh, W. (2020) · PLoS ONE · doi:10.1371/journal.pone.0235574 · Cited by 61
“Others have noted that the true number of rare diseases is unknown, and have called for more research to define them [3].”
BackgroundThe case for open science: rare diseases
Rubinstein, Y., Robinson, P. N., Gahl, W. A., Avillach, P., Baynam, G. S., Cederroth, H., Goodwin, R. M., Groft, S. C., HANSSON, M. G., Harris, N. L., et al. (2020) · JAMIA Open · doi:10.1093/jamiaopen/ooaa030 · Cited by 58
“Roughly 5000–8000 RDs have been described, but the number of RDs is estimated to exceed 10,000.(5) Most RDs are severe and chronic and some are life-threatening.”
BackgroundSelf-citationDrug repurposing for rare: progress and opportunities for the rare disease community
Jonker, A. H., O’Connor, D. J., Cavaller-Bellaubi, M., Fetro, C., Γώγου, Μ., Hoen, P. A. C. ’., de Kort, M., Stone, H. A., Valentine, N., & Pasmooij, A. M. G. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1352803 · Cited by 53
Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study
Phillips, C. B., Parkinson, A., Namsrai, T., Chalmers, A., Dews, C., Gregory, D., Kelly, E., Lowe, C., & Desborough, J. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03319-2 · Cited by 54
“There are estimated to be 7,000 to 8,000 rare diseases [1].”
BackgroundLumping versus splitting: How to approach defining a disease to enable accurate genomic curation
Thaxton, C., Goldstein, J., DiStefano, M. T., Wallace, K. E., Witmer, P. D., Haendel, M. A., Hamosh, A., Rehm, H. L., & Berg, J. S. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100131 · Cited by 56
“Of note, rare genetic diseases are often defined heterogeneously across sources, 9 which can lead to inconsistent interpretation of the clinical relevance of genes and variants.”
Self-citationRare diseases, common barriers: disparities in pediatric clinical genetics outcomes
Wojcik, M. H., Bresnahan, M., del Rosario, M. C., Ojeda, M. M., Kritzer, A., & Fraiman, Y. S. (2022) · Pediatric Research · doi:10.1038/s41390-022-02240-3 · Cited by 59
“Other languages included Albanian (2), Cape Verde Creole (6), Chinese (10), Haitian Creole (7), Hindi (1), Indian (1), Italian (1), Korean (1), Polish (1), Portuguese (16), Russian (7), Sign Language (6), Somalian (5), Urdu (1), Vietnamese (3), unspecified (1).”
BackgroundWhat can GPT-4 do for Diagnosing Rare Eye Diseases? A Pilot Study
Hu, X., Ran, A. R., Nguyen, T. X., Szeto, S., Yam, J. C. S., Chan, C. K. M., & Cheung, C. Y.-L. (2023) · Ophthalmology and Therapy · doi:10.1007/s40123-023-00789-8 · Cited by 52
“There are approximately 7000 rare diseases, and patients with rare diseases are estimated to constitute about 10% of the population [1].”
BackgroundWei, J., Chen, X., Li, Y., Li, R., Bao, K., Liao, L., Xie, Y., Yang, T., Zhu, J., Mao, F., et al. (2022) · Acta Pharmaceutica Sinica B · doi:10.1016/j.apsb.2022.05.021 · Cited by 51
Pandey, R., Brennan, N. F., Trachana, K., Katsandres, S. C., Bodamer, O. A., Belmont, J. W., Veenstra, D. L., & Peng, S. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101398 · Cited by 56
Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles
Kidwell, K., Roychoudhury, S., Wendelberger, B. A., Scott, J., Moroz, T., Yin, S., Majumder, M., Zhong, J., Huml, R. A., & Miller, V. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02342-5 · Cited by 48
“Background The Orphan Drug Act defines a rare disease as one that affects less than 200,000 individuals in the United States, while the European Union defines a rare disease as one that affects 1 per 2000 individuals or fewer [1]; combined there are somewhere between six to ten thousand rare diseases [2].”
BackgroundGuo, J., Liu, P., Chen, L., Lv, H., Li, J., Yu, W., Xu, K., Zhu, Y., Wu, Z., Tian, Z., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02130-7 · Cited by 47
Artificial intelligence in drug repurposing for rare diseases: a mini-review
Cortial, L., Montero, V., Tourlet, S., del Bano, J., & Blin, O. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1404338 · Cited by 55
Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT
Zelin, C., Chung, W. K., Jeanne, M., Zhang, G., & Weng, C. (2024) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2024.104702 · Cited by 47
Aryl Hydrocarbon Receptor Mechanisms Affecting Chronic Kidney Disease
Curran, C. S., & Kopp, J. B. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.782199 · Cited by 46
Wang, R., Helbig, I., Edmondson, A. C., Lin, L., & Xing, Y. (2023) · Briefings in Bioinformatics · doi:10.1093/bib/bbad284 · Cited by 42
“Rare diseases collectively impact more than 300 million people worldwide, with over 7000 distinct conditions catalogued to date [1, 2].”
BackgroundWang, C. M., Heagle, A. B., Rath, A., Anido, R., Ardigò, D., Baynam, G. S., Dawkins, H. J. S., Hamosh, A., Cam, Y. L., Malherbe, H. L., et al. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03322-7 · Cited by 41
“As public health agencies and governments implement new policies, they need a reference that describes which diseases are considered rare, how many persons are affected, and why the rare disease community deserves specific attention [3].”
BackgroundSelf-citationThe state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
Jonker, A. H., Tãtaru, E.-A., Graeßner, H., Dimmock, D., Jaffé, A., Baynam, G. S., Davies, J. O. J., Mitkus, S., Iliach, O., Horgan, R., et al. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-01059-3 · Cited by 48
“However, with approximately 10,000 recognized rare diseases, there are an estimated 250–450 million people living with rare or ultra-rare diseases worldwide 2–4 .”
Self-citationRare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care
Halley, M. C., Halverson, C. M. E., Tabor, H. K., & Goldenberg, A. J. (2023) · The American Journal of Bioethics · doi:10.1080/15265161.2023.2207500 · Cited by 41
Fields, T., Patterson, M. C., Brémovà-Ertl, T., Belcher, G., Billington, I., Churchill, G. C., Davis, W., Evans, W. R. H., Flint, S., Galione, A., et al. (2021) · Trials · doi:10.1186/s13063-020-05009-3 · Cited by 40
Carer reported experiences: Supporting someone with a rare disease
McMullan, J., Crowe, A. L., Downes, K., McAneney, H., & McKnight, A. J. (2021) · Health & Social Care in the Community · doi:10.1111/hsc.13336 · Cited by 39
Barriers and facilitators to the implementation of guidelines in rare diseases: a systematic review
Gittus, M., Chong, J., Sutton, A., Ong, A. C. M., & Fotheringham, J. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02667-9 · Cited by 40
“Background and objectives Although rare diseases are individually rare, they are collectively common with an estimated global prevalence of 263–446 million people across 6000–7000 diseases [1, 2].”
BackgroundRintell, D. J., Heath, D., Menendez, F. B., Cross, E., Cross, T., Knobel, V., Gagnon, B., Turtle, C. J., Cohen, A., Kalmykov, E. A., et al. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01706-7 · Cited by 38
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
Easteal, S., Arkell, R. M., Balboa, R. F., Bellingham, S. A., Brown, A. D. H., Calma, T., Cook, M., Davis, M., Dawkins, H. J. S., Dinger, M. E., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.005 · Cited by 40
Self-citationBetween hope and reality: treatment of genetic diseases through nucleic acid-based drugs
Baylot, V., Le, T. K., Taïeb, D., Rocchi, P., & Colleaux, L. (2024) · Communications Biology · doi:10.1038/s42003-024-06121-9 · Cited by 44
RareBench: Can LLMs Serve as Rare Diseases Specialists?
Chen, X., Mao, X., Guo, Q., Wang, L., Zhang, S., & Chen, T. (2024) · Proceedings of the 30th ACM SIGKDD Conference on Knowledge Discovery and Data Mining · doi:10.1145/3637528.3671576 · Cited by 41
“Over 7,000 types of rare diseases are currently recognized [11], with approximately 80% being genetic in origin.”
BackgroundBrooks, P., Ottinger, E., Portero, D., Lomash, R. M., Alimardanov, A., Terse, P., Xu, X., Chandler, R., Hauserman, J., Esposito, E., et al. (2020) · Human Gene Therapy · doi:10.1089/hum.2020.259 · Cited by 33
“THERE ARE AN estimated 7,000–10,000 different rare diseases that impact the human population.(1) Around 85% of rare diseases (*6,500 diseases) are thought to be monogenic disorders, which are diseases caused by mutations in a single gene, with this number increasing by about 200 newly identified diseases each year.”
BackgroundFew shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
Alsentzer, E., Li, M. M., Kobren, S. N., Noori, A., Undiagnosed Diseases Network, Kohane, I. S., & Zitnik, M. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-01749-1 · Cited by 54
Knockout mouse models as a resource for the study of rare diseases
da Silva‐Buttkus, P., Spielmann, N., Klein‐Rodewald, T., Schütt, C., Aguilar‐Pimentel, J. A., Amarie, O. V., Becker, L., Calzada‐Wack, J., Garrett, L., Gerlini, R., et al. (2023) · Mammalian Genome · doi:10.1007/s00335-023-09986-z · Cited by 35
Germain, D. P., Gruson, D., Malcles, M., & Garcelon, N. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03655-x · Cited by 39
“More than 10,000 rare diseases have been identified so far, which makes physician training and patient care challenging [21–23].”
Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
Gorini, F., Coi, A., Mezzasalma, L., Baldacci, S., Pierini, A., & Santoro, M. C. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01907-0 · Cited by 34
“Actually, the exact number of RDs is unknown and depends on the source, and is meanwhile increasing due to new RDs reported periodically in the medical literature [4, 6].”
BackgroundKováč, P., Jackuliak, P., Bražinová, A., Varga, I., Aláč, M., Smatana, M., Lovich, D., & Thurzo, A. (2024) · AI · doi:10.3390/ai5030049 · Cited by 33
“Depending on the definition, there are from 5000 to over 10,000 rare diseases [1,2].”
BackgroundWhy rare disease needs precision medicine—and precision medicine needs rare disease
Might, M., & Crouse, A. B. (2022) · Cell Reports Medicine · doi:10.1016/j.xcrm.2022.100530 · Cited by 33
Rapid genome sequencing for pediatrics
Jezkova, J., Shaw, S., Taverner, N. V., & Williams, H. J. (2022) · Human Mutation · doi:10.1002/humu.24466 · Cited by 32
“It may also be cost ‐ effective to target patients with RDs that have been shown to be highly tractable to genomic sequencing approaches, such as those with a neurodevelopmental phenotype, in which a diagnostic rate of up to 70% can be obtained (Acuna ‐ Hidalgo et al., 2016; Brunet et al., 2021; Deciphering Developmen…”
BackgroundRare disease care in Europe – Gaping unmet needs
Pakter, P. (2024) · Rare · doi:10.1016/j.rare.2024.100018 · Cited by 32
Mao, X., Huang, Y., Jin, Y., Wang, L., Chen, X., Liu, H., Yang, X., Xu, H., Luan, X., Xiao, Y., et al. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-01452-1 · Cited by 35
“Despite their low prevalence, rare diseases affect ~350 million people worldwide 2 .”
Nonhuman primate genetic models for the study of rare diseases
Vallender, E. J., Hotchkiss, C. E., Lewis, A. D., Rogers, J., Stern, J. A., Peterson, S. M., Ferguson, B. M., & Sayers, K. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02619-3 · Cited by 36
“Rare diseases occur, by definition, infrequently, but with an estimated 10,000 unique rare diseases their overall impact is substantial [1].”
BackgroundCheerie, D., Meserve, M. M., Beijer, D., Kaiwar, C., Newton, L., Tavares, A. L. T., Soucy, A., Sherrill, E., Leonard, S., Sanders, S., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.02.017 · Cited by 32
An update on China's national policies regarding rare diseases
Ying, Z., Gong, L., & Li, C. (2021) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2021.01027 · Cited by 31
The Quest for Secondary Pharmaceuticals: Drug Repurposing/Chiral-Switches Combination Strategy
D’Acquarica, I., & Agranat, I. (2023) · ACS Pharmacology & Translational Science · doi:10.1021/acsptsci.2c00151 · Cited by 33
Schütze, D., Holtz, S., Neff, M. C., Köhler, S. M., Schaaf, J., Frischen, L. S., Sedlmayr, B., & Müller, B. S. (2023) · BMC Medical Informatics and Decision Making · doi:10.1186/s12911-023-02245-w · Cited by 29
“According to current estimates, 5,000 to 8,000 rare diseases exist [8, 9].”
BackgroundSelf-citationDomaradzki, J., & Walkowiak, D. (2024) · Scientific Reports · doi:10.1038/s41598-024-63962-4 · Cited by 31
Epps, C., Bax, R., Croker, A. K., Green, D. J., Gropman, A. L., Klein, Á., Landry, H., Pariser, A., Rosenman, M. B., Sakiyama, M., et al. (2022) · Therapeutic Innovation & Regulatory Science · doi:10.1007/s43441-022-00409-w · Cited by 30
Hiatt, L., Weisburd, B., Dolzhenko, E., Rubinetti, V., Avvaru, A. K., VanNoy, G. E., Kurtas, N. E., Rehm, H. L., Quinlan, A. R., & Dashnow, H. (2025) · Genome Medicine · doi:10.1186/s13073-025-01454-4 · Cited by 31
“Queried PMIDs were leveraged in addition to OMIM [34], GeneReviews [33], and Orphanet [56] to establish ranges in age of onset (including documented extremes and the typical range), detected motifs with clinical classification, prevalence estimates as available, and a number of independent…”
Self-citationConsiderations for mRNA Product Development, Regulation and Deployment Across the Lifecycle
Skerritt, J. H. (2025) · Vaccines · doi:10.3390/vaccines13050473 · Cited by 31
“There are about 10,000 rare diseases identified [101] but only about five percent of rare diseases or conditions have US FDA-approved products available [102].”
Research advances in treatment methods and drug development for rare diseases
Han, Q., Fu, H., Chu, X., Wen, R., Zhang, M., You, T., Fu, P., Qin, J. G., & Cui, T. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.971541 · Cited by 28
“Rare diseases are a group of diseases that are uncommon and have a very low prevalence compared to other diseases (Haendel et al., 2020).”
BackgroundEpidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
Piedade, A., Francisco, R., Jaeken, J., Sarkhail, P., Brasil, S., Ferreira, C. R., Rijoff, T., Pascoal, C., Gil, A., Lourenço, A. B., et al. (2022) · Journal of Rare Diseases · doi:10.1007/s44162-022-00003-6 · Cited by 28
“Close to 8000 RDs are known and about 80% have a genetic origin [5, 6].”
BackgroundAdang, L. A., Sevagamoorthy, A., Sherbini, O., Fraser, J. L., Bonkowsky, J. L., Gavazzi, F., D'Aiello, R., Modesti, N. B., Yu, E. J., Mutua, S., et al. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2024.108453 · Cited by 28
Ng, Q. X., Ong, C., Chan, K. E., Ong, T. S. K., Lim, I. J. X., Tang, A. S. P., Chan, H. W., & Koh, G. C. (2024) · Health Economics Review · doi:10.1186/s13561-024-00519-1 · Cited by 27
“As of 2023, the RDF covers five conditions and seven medications [3], and has helped relieve the medical financial burden of nine Singaporean patients [57].”
BackgroundMachine Learning-Friendly Biomedical Datasets for Equivalence and Subsumption Ontology Matching
He, Y., Chen, J., Dong, H., Jiménez-Ruiz, E., Hadian, A., & Horrocks, I. R. (2022) · Lecture notes in computer science · doi:10.1007/978-3-031-19433-7_33 · Cited by 27
Clustering rare diseases within an ontology-enriched knowledge graph
Sanjak, J. S., Binder, J., Yadaw, A. S., Zhu, Q., & Mathé, E. A. (2023) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocad186 · Cited by 27
Baatartsogt, N., Kashiwakura, Y., Hayakawa, M., Kamoshita, N., Hiramoto, T., Mizukami, H., & Ohmori, T. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.06.004 · Cited by 24
“Clinical studies on gene therapy based on the AAV vector have been extensively developed in recent years and are being touted as the next-generation treatment to cure several inherited and degenerative diseases.(1,2) Although AAVs do not cause any disease in humans, a major limitation of the AAV vector is the presence…”
BackgroundThe economics of moonshots: Value in rare disease drug development
Yates, N. A., & Hinkel, J. M. (2022) · Clinical and Translational Science · doi:10.1111/cts.13270 · Cited by 25
Zhao, Z., Pei, Z., Hu, A., Zhang, Y., & Chen, J. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02684-8 · Cited by 24
“At present, more than 7,000 rare diseases have been identified worldwide [1], accounting for approximately 10% of total disease prevalence [2], and the number is still increasing.”
BackgroundSegura-Bédmar, I., Camino-Perdones, D., & Guerrero‐Aspizua, S. (2022) · BMC Bioinformatics · doi:10.1186/s12859-022-04810-y · Cited by 27
“Therefore, there is an urgent need to increase the usability of the sparse and fragmented scientific and medical knowledge about rare diseases [11].”
A review of key terminology and definitions used for birth defects globally
Malherbe, H. L., Modell, B., Blencowe, H. K., Strong, K., & Aldous, C. R. (2023) · Journal of Community Genetics · doi:10.1007/s12687-023-00642-2 · Cited by 24
“While individually rare, collectively, rare diseases are common, with over 7 000 characterised to date, accounting for a third of congenital disorders (Haendel et al. 2020).”
BackgroundAbbasi, A. F., Asim, M. N., Ahmed, S., Vollmer, S. J., & Dengel, A. (2024) · Frontiers in Artificial Intelligence · doi:10.3389/frai.2024.1428501 · Cited by 25
“According to World Health Organization (WHO), around ten thousand diseases have been discovered and each disease has unique characteristics, symptoms, and implications on human health (Haendel et al., 2020).”
BackgroundČerne, T., Kragelj, L. Z., Turk, E., & Pavlič, D. R. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03327-2 · Cited by 22
“The estimated number of different rare diseases is currently around 10,000 [32].”
BackgroundGunes, D., Karaca, M., Durmuş, A., Ak, B., Ayaz, N. A., Altınel, Z. U., Aslanger, A. D., Atalar, F., Balci, M. C., Bilgin, L., et al. (2025) · European Journal of Pediatrics · doi:10.1007/s00431-025-06101-z · Cited by 23
“Although rare individually, rare diseases affect a population size equivalent to the third largest country in the world collectively [3, 4].”
Stop Codon Context-Specific Induction of Translational Readthrough
Schilff, M., Sargsyan, Y., Hofhuis, J., & Thoms, S. (2021) · Biomolecules · doi:10.3390/biom11071006 · Cited by 23
“The estimated number of rare diseases ranges between 7000 and 10,000 [1].”
BackgroundBishop, Ö. T., Musyoka, T. M., & Barozi, V. (2022) · Journal of Molecular Biology · doi:10.1016/j.jmb.2022.167610 · Cited by 23
From precision interventions to precision health
Schork, N. J., & Goetz, L. H. (2025) · Nature Communications · doi:10.1038/s41467-025-60395-z · Cited by 30
“…effects (e.g., variants causing Batten disease or Cystic Fibrosis); note that ~5% of all humans harbor rare, likely health compromising variants 62 and all individuals harbor some number of rare or unique functional variants whose clinical and physiological signi fi cance is unknown 63,64 ; and…”
Cope, H., Willis, C. R. G., MacKay, M. J., Rutter, L. A., Toh, L. S., Williams, P. M., Herranz, R., Borg, J., Bezdan, D., Giacomello, S., et al. (2022) · Patterns · doi:10.1016/j.patter.2022.100550 · Cited by 21
“Holding some similarity to rare disease cohorts, 108–110 astro-nauts and SFPs are currently a small population of public figures.”
BackgroundOkuyama, R. (2023) · Pharmaceutics · doi:10.3390/pharmaceutics15071794 · Cited by 21
“Therefore, innovative medicines are desired for treating many rare diseases [6].”
BackgroundThe Role of Propranolol as a Repurposed Drug in Rare Vascular Diseases
Cuesta, Á. M., Gallardo‐Vara, E., Casado‐Vela, J., Recio-Poveda, L., Botella, L. M., & Albiñana, V. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23084217 · Cited by 20
“According to the World Health Organization (WHO), approximately 6000–8000 different RDs exist, affecting 400 million people globally, however, less than 5% have an effective treatment [1].”
BackgroundEpigenomic Approaches for the Diagnosis of Rare Diseases
Martínez–Delgado, B., & Barrero, M. J. (2022) · Epigenomes · doi:10.3390/epigenomes6030021 · Cited by 20
“More than 8000 rare diseases have been described [3].”
BackgroundA corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
Daniš, D., Bamshad, M. J., Bridges, Y., Caballero-Oteyza, A., Cacheiro, P., Carmody, L., Chimirri, L., Chong, J. X., Coleman, B. D., Dalgleish, R. W. M., et al. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100371 · Cited by 20
Self-citationStandardizing variant naming in literature with VariantValidator to increase diagnostic rates
Freeman, P., Wagstaff, J. F., Fokkema, I. F. A. C., Cutting, G. R., Rehm, H. L., Davies, A. C., den Dunnen, J. T., Gretton, L. J., & Dalgleish, R. W. M. (2024) · Nature Genetics · doi:10.1038/s41588-024-01938-w · Cited by 19
Self-citationGlobal insight into rare disease and orphan drug definitions: a systematic literature review
Abo-Zaid, G., Kerr, K., Alomary, H., Al‐Omar, H. A., & McKnight, A. J. (2025) · BMJ Open · doi:10.1136/bmjopen-2024-086527 · Cited by 19
Poor education and urgent information need for emergency physicians about rare diseases in China
Zhou, L., Xu, J., & Yang, J. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02354-1 · Cited by 19
“Wu N, Yu YF, Chuang CC, Wang R, Benjamin NN, Coultas DB. Healthcare resource utilization among patients diagnosed with idiopathic pulmonary fibrosis in the United States.”
BackgroundInfluentialEnhanced rare disease mapping for phenome-wide genetic association in the UK Biobank
Patrick, M., Bardhi, R., Zhou, W., Elder, J. T., Gudjonsson, J., & Tsoi, L. (2022) · Genome Medicine · doi:10.1186/s13073-022-01094-y · Cited by 16
“5% in Europeans [17], which is higher than many common diseases, such as psoriasis [18] and glaucoma [19]; some sources suggest as many as 1 in 10 Americans are living with a rare disease [4, 10].”
BackgroundResultInfluentialA review of economic issues for gene‐targeted therapies: Value, affordability, and access
Garrison, L. P., Lo, A. W., Finkel, R. S., & Deverka, P. A. (2023) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32037 · Cited by 24
Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey
Rohani-Montez, S. C., Bomberger, J., Zhang, C., Cohen, J., McKay, L., & Evans, W. R. H. (2023) · Genetics in Medicine Open · doi:10.1016/j.gimo.2023.100808 · Cited by 19
Resources and tools for rare disease variant interpretation
Licata, L., Via, A., Turina, P., Babbi, G., Benevenuta, S., Carta, C., Casadio, R., Cicconardi, A., Facchiano, A. M., Fariselli, P., et al. (2023) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2023.1169109 · Cited by 23
“Approximately 7,000 different RDs have been identified to date, even though the exact number is debated (Hartley et al., 2018; Ferreira, 2019; Haendel et al., 2020), of which an estimated 70% are genetic (with 4,418 involved genes identified so far, November 2022), whilst the remaining are the results of infections, a…”
BackgroundThe Rare Diseases Clinical Research Network: a model for clinical trial readiness
Lumsden, J. M., & Urv, T. K. (2023) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040231219272 · Cited by 22
Implementation of multi-omics in diagnosis of pediatric rare diseases
Ali, S., Li, Q., & Agrawal, P. B. (2024) · Pediatric Research · doi:10.1038/s41390-024-03728-w · Cited by 18
Evaluation of rare diseases policy performance of oecd countries using mcdm methods
İnce, Ö., & Güre, M. D. P. (2021) · Health Policy and Technology · doi:10.1016/j.hlpt.2021.100537 · Cited by 18
The use of pharmacological chaperones in rare diseases caused by reduced protein stability
Gil‐Martínez, J., Bernardo‐Seisdedos, G., Mato, J. M., & Millet, Ó. (2022) · PROTEOMICS · doi:10.1002/pmic.202200222 · Cited by 18
“Indeed, a given disease is catalogued as an RD only according to its frequency, with the definition varying depending on the region: less than 1 in 2000 people according to European Union or 1 in 200,000 people according to United States criteria [57].”
Background
Metadata
- Authors
- Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., Dawkins, H., Rath, A., Thaxton, C., Bocci, G., Joachimiak, M. P., Köhler, S., Robinson, P. N., Mungall, C., & Oprea, T. I.
- Affiliations
- Oregon Health & Science University (US)
- Lawrence Berkeley National Laboratory (US)
- University of New Mexico (US)
- Massachusetts General Hospital (US)
- Johns Hopkins University (US)
- Government of Western Australia Department of Health (AU)
- Oregon State University (US)
- Inserm (FR)
- University of North Carolina at Chapel Hill (US)
- Freie Universität Berlin (DE)
- The Jackson Laboratory for Genomic Medicine (US)
- Corresponding author
- Haendel, Melissa
- Oprea, Tudor I.
- ORCID
- Venue
- Nature Reviews Drug Discovery
- Published
- 2019-11-05
- Volume
- 19
- Issue
- 2
- Pages
- 77-78
- ISSN
- 1474-1776 (ISSN-L)
- 1474-1784
- PMC
- PMC7771654
- OpenAlex
- W2988630324
- Cited by
- 554
- References
- 6
- Citations by year
- 2026: 69 · 2025: 115 · 2024: 133 · 2023: 100 · 2022: 75 · 2021: 46 · 2020: 15 · 2019: 1
- FWCI
- 22.15
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Nature Reviews Drug Discovery (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (U24TR002278, R24OD011883)
- National Human Genome Research Institute (U41HG009650, U41HG006627, RM1HG010860, U24HG009650)
- National Cancer Institute (U24CA224370, U01CA239108, P30CA118100)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Epidemiology › Chronic Disease Management Strategies
- Keywords
- rare diseases, disease prevalence, disease definition, disease burden, rare disease epidemiology, rare disease research
- MeSH terms
- Humans, Phenotype, Rare Diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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