Cited by 574Genomics and Rare DiseasesGenetic Associations and EpidemiologyChronic Disease Management Strategies

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Haendel, Melissa, Vasilevsky, Nicole, Unni, Deepak, Bologa, Cristian, Harris, Nomi, Rehm, Heidi, Hamosh, Ada, Baynam, Gareth, Groza, Tudor, McMurry, Julie, Dawkins, Hugh, Rath, Ana, Thaxton, Courtney, Bocci, Giovanni, Joachimiak, Marcin P., Köhler, Sebastian, Robinson, Peter N., Mungall, Chris, Oprea, Tudor I.·2020·Nature Reviews Drug Discovery

DOI 10.1038/d41573-019-00180-yPMC PMC7771654

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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
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Erratum: Unexplored therapeutic opportunities in the human genome
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Additional file 2 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037684
Additional file 5 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037696
Additional file 1 of Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, É., Andreotti, G., & Cubellis, M. V. (2023) · Figshare · doi:10.6084/m9.figshare.24054312
Additional file 8 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037708
Additional file 9 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037714
Additional file 10 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037675
Additional file 6 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037702
Additional file 4 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037690
Additional file 4 of Congenital disorders of glycosylation: narration of a story through its patents
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Additional file 1 of A disease-specific iPS cell resource for studying rare and intractable diseases
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Additional file 1 of Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank
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Additional file 3 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037687
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Rajavel, A., & Sella, R. N. (2024) · Springer eBooks · doi:10.1007/978-981-99-9323-9_5
Beyond Biology
Peretti, A. V., Calbacho-Rosa, L. S., Olivero, P. A., Oviedo‐Diego, M. A., & Vrech, D. E. (2024) · Springer eBooks · doi:10.1007/978-3-031-55382-0_8
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“Despite the fact that there are currently more than 10,000 rare diseases (Haendel et al. 2020), there exists no FDA-approved medication or cure for 95% of them and the ones available are focused on the life quality improvement and not on prevention of primary symptoms progression (Roessler et al.…”
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“However, recent studies suggest the number ranges from 5 , 000 to over 10 , 000 , depending on the classification criteria and scope [ 4 ].”
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“Approximately 80 % of rare diseases have a genetic origin [2 (cid:1) 5].”
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Chen, K. S., Ao, M., Moon, S., Burns, G., & Zhu, Q. (2025) · Journal of Rare Diseases · doi:10.1007/s44162-025-00115-9
“About 10,000 rare diseases collectively affect approximately 25 to 30 million people nationwide [4].”
Adults with sickle-cells in a migration-driven rare disease setting: Therapeutic remoteness and graphic medicine in Austria
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Pariser, A., Stoyanova-Beninska, V. V., Iliach, O., Jundi, R., Lee, K. J., Morikawa, H., Parker, S. J., Pothet, C., Rizzi, M., Vaillancourt, J., et al. (2025) · Drug Discovery Today · doi:10.1016/j.drudis.2025.104529
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“Rare diseases, known as conditions affecting a small number of individuals compared to the general population [25], are further classified as rare or ultra-rare [26].”
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Labory, J., Boulaimen, Y., Singh, J., Ait-El-Mkadem, S., Paquis‐Flucklinger, V., Bannwarth, S., & Bottini, S. (2025) · Briefings in Bioinformatics · doi:10.1093/bib/bbaf612
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“Despite the low prevalence of specific RDs, the absolute burden of RDs is greater in China than in other countries due to its large population [2, 10].”
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Additional file 1 of 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. (2021) · Figshare · doi:10.6084/m9.figshare.14782599
Additional file 2 of Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank
Patrick, M. T., Bardhi, R., Zhou, W., Elder, J. T., Gudjonsson, J. E., & Tsoi, L. C. (2022) · Figshare · doi:10.6084/m9.figshare.20461972
Additional file 4 of The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases
Rico, J., de Garibay, L. J. E. G., García-López, M., Guardiola-Vilarroig, S., Maceda-Roldán, L. A., Zurriaga, Ó., & Cavero‐Carbonell, C. (2021) · Figshare · doi:10.6084/m9.figshare.14189730
Additional file 2 of Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders
Kim, H. H., Kim, D.-W., Woo, J., & Lee, K. (2024) · Figshare · doi:10.6084/m9.figshare.26696070
Additional file 1 of The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems
Tisdale, A., Cutillo, C. M., Nathan, R., Russo, P., Laraway, B. J., Haendel, M., Nowak, D., Hasche, C., Chan, C.-H., Griese, E. R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16851244
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Additional file 1 of Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Wang, C. M., Whiting, A. H., Rath, A., Anido, R., Ardigò, D., Baynam, G. S., Dawkins, H. J. S., Hamosh, A., Cam, Y. L., Malherbe, H. L., et al. (2024) · Figshare · doi:10.6084/m9.figshare.27000796
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Additional file 1 of Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders
Kim, H. H., Kim, D.-W., Woo, J., & Lee, K. (2024) · Figshare · doi:10.6084/m9.figshare.26696067
Additional file 5 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962379
Additional file 3 of Barriers and facilitators to the implementation of guidelines in rare diseases: a systematic review
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Additional file 1 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962367
Additional file 2 of National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses
Guo, J., Liu, P., Chen, L., Lv, H., Li, J., Yu, W., Xu, K., Zhu, Y., Wu, Z., Tian, Z., et al. (2021) · Figshare · doi:10.6084/m9.figshare.17284056
Additional file 1 of The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Сун, Л. (2021) · Figshare · doi:10.6084/m9.figshare.17037678
Additional file 3 of Requirements analysis for an AI-based clinical decision support system for general practitioners: a user-centered design process
Schütze, D., Holtz, S., Neff, M. C., Köhler, S. M., Schaaf, J., Frischen, L. S., Sedlmayr, B., & Müller, B. S. (2024) · Figshare · doi:10.6084/m9.figshare.26607730
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Additional file 4 of Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis
Li, Y., Du, P., Zhang, X., Ren, C., Shi, X., Dong, X., & Zhang, C. (2024) · Figshare · doi:10.6084/m9.figshare.26647872
Additional file 1 of The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases
Rico, J., de Garibay, L. J. E. G., García-López, M., Guardiola-Vilarroig, S., Maceda-Roldán, L. A., Zurriaga, Ó., & Cavero‐Carbonell, C. (2021) · Figshare · doi:10.6084/m9.figshare.14189721
Additional file 1 of A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years
Oliveira, C. C., Charalampous, P., Delaye, J., Grad, D. A., Kolkhir, P., Mechili, E. A., Unim, B., Devleesschauwer, B., & Haagsma, J. A. (2024) · Figshare · doi:10.6084/m9.figshare.26974440
Additional file 1 of Requirements analysis for an AI-based clinical decision support system for general practitioners: a user-centered design process
Schütze, D., Holtz, S., Neff, M. C., Köhler, S. M., Schaaf, J., Frischen, L. S., Sedlmayr, B., & Müller, B. S. (2024) · Figshare · doi:10.6084/m9.figshare.26607724
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Additional file 3 of A disease-specific iPS cell resource for studying rare and intractable diseases
Saito, M. K., Osawa, M., Tsuchida, N., Shiraishi, K., Niwa, A., Woltjen, K., Asaka, I., Ogata, K., Ito, S., Kobayashi, S., et al. (2023) · Figshare · doi:10.6084/m9.figshare.24113144
Additional file 8 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962391
Additional file 3 of Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis
Li, Y., Du, P., Zhang, X., Ren, C., Shi, X., Dong, X., & Zhang, C. (2024) · Figshare · doi:10.6084/m9.figshare.26647869
Additional file 3 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962373
Additional file 1 of Experiences of quality of life and access to health services among rare disease caregivers: a scoping review
Černe, T., Zaletel‐Kragelj, L., Turk, E., & Pavlič, D. R. (2024) · Figshare · doi:10.6084/m9.figshare.26944611
Additional file 3 of A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years
Oliveira, C. C., Charalampous, P., Delaye, J., Grad, D. A., Kolkhir, P., Mechili, E. A., Unim, B., Devleesschauwer, B., & Haagsma, J. A. (2024) · Figshare · doi:10.6084/m9.figshare.26974446
Additional file 1 of Enabling personalised disease diagnosis by combining a patient’s time-specific gene expression profile with a biomedical knowledge base
Verma, G., Rebholz-Schuhmann, D., & Madden, M. G. (2024) · Figshare · doi:10.6084/m9.figshare.26678090
Additional file 1 of The national economic burden of rare disease in the United States in 2019
Yang, G., Cintina, I., Pariser, A., Oehrlein, E., Sullivan, J., & Kennedy, A. (2022) · Figshare · doi:10.6084/m9.figshare.19589232
Additional file 1 of Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force
Nabbout, R., Zanello, G., Baker, D. B., Black, L., Brambilla, I., Buske, O. J., Conklin, L. S., Davies, E. H., Julkowska, D., Kim, Y., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22792857
Additional file 9 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962397
Additional file 3 of The national economic burden of rare disease in the United States in 2019
Yang, G., Cintina, I., Pariser, A., Oehrlein, E., Sullivan, J., & Kennedy, A. (2022) · Figshare · doi:10.6084/m9.figshare.19589241
Additional file 7 of 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) · Figshare · doi:10.6084/m9.figshare.23354428
Additional file 3 of The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases
Rico, J., de Garibay, L. J. E. G., García-López, M., Guardiola-Vilarroig, S., Maceda-Roldán, L. A., Zurriaga, Ó., & Cavero‐Carbonell, C. (2021) · Figshare · doi:10.6084/m9.figshare.14189727
Additional file 1 of Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study
Liu, W., Liu, P., Guo, D., Jin, Y., Zhao, K., Zheng, J., Li, K., Li, L., & Zhang, S. (2023) · Figshare · doi:10.6084/m9.figshare.23930305
Additional file 2 of Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis
Li, Y., Du, P., Zhang, X., Ren, C., Shi, X., Dong, X., & Zhang, C. (2024) · Figshare · doi:10.6084/m9.figshare.26647866
Additional file 7 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962388
Additional file 2 of The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems
Tisdale, A., Cutillo, C. M., Nathan, R., Russo, P., Laraway, B. J., Haendel, M., Nowak, D., Hasche, C., Chan, C.-H., Griese, E. R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.16851247
Self-citation
Additional file 1 of Randomized controlled trial data for successful new drug application for rare diseases in the United States
Kubota, Y., & Narukawa, M. (2023) · Figshare · doi:10.6084/m9.figshare.22662432
Additional file 2 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962370
Additional file 5 of 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) · Figshare · doi:10.6084/m9.figshare.23354422
Additional file 6 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962382
Additional file 8 of 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) · Figshare · doi:10.6084/m9.figshare.23354431
Additional file 2 of The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases
Rico, J., de Garibay, L. J. E. G., García-López, M., Guardiola-Vilarroig, S., Maceda-Roldán, L. A., Zurriaga, Ó., & Cavero‐Carbonell, C. (2021) · Figshare · doi:10.6084/m9.figshare.14189724
Additional file 2 of The national economic burden of rare disease in the United States in 2019
Yang, G., Cintina, I., Pariser, A., Oehrlein, E., Sullivan, J., & Kennedy, A. (2022) · Figshare · doi:10.6084/m9.figshare.19589238
Additional file 2 of Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science
Xu, M., Li, G., Li, J., Xiong, H., & He, S. (2023) · Figshare · doi:10.6084/m9.figshare.24202819
Additional file 4 of A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Dybesland Rosenberger, A., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Figshare · doi:10.6084/m9.figshare.26962376
Additional file 4 of The national economic burden of rare disease in the United States in 2019
Yang, G., Cintina, I., Pariser, A., Oehrlein, E., Sullivan, J., & Kennedy, A. (2022) · Figshare · doi:10.6084/m9.figshare.19589247
Additional file 1 of Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles
Kidwell, K., Roychoudhury, S., Wendelberger, B., Scott, J., Moroz, T., Yin, S., Majumder, M., Zhong, J., Huml, R. A., & Miller, V. (2022) · Figshare · doi:10.6084/m9.figshare.19728445
Additional file 2 of Requirements analysis for an AI-based clinical decision support system for general practitioners: a user-centered design process
Schütze, D., Holtz, S., Neff, M. C., Köhler, S. M., Schaaf, J., Frischen, L. S., Sedlmayr, B., & Müller, B. S. (2024) · Figshare · doi:10.6084/m9.figshare.26607727
Self-citation
Additional file 6 of 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) · Figshare · doi:10.6084/m9.figshare.23354425
Additional file 1 of Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis
Li, Y., Du, P., Zhang, X., Ren, C., Shi, X., Dong, X., & Zhang, C. (2024) · Figshare · doi:10.6084/m9.figshare.26647863
Additional file 1 of National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses
Guo, J., Liu, P., Chen, L., Lv, H., Li, J., Yu, W., Xu, K., Zhu, Y., Wu, Z., Tian, Z., et al. (2021) · Figshare · doi:10.6084/m9.figshare.17284050
Additional file 4 of 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) · Figshare · doi:10.6084/m9.figshare.23354419

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: Haendel, Melissa
Vasilevsky, Nicole
Unni, Deepak
Bologa, Cristian
Harris, Nomi
Rehm, Heidi
Hamosh, Ada
Baynam, Gareth
Groza, Tudor
McMurry, Julie
Rath, Ana
Thaxton, Courtney
Bocci, Giovanni
Joachimiak, Marcin P.
Köhler, Sebastian
Robinson, Peter N.
Mungall, Chris
Oprea, Tudor I.
Venue: Nature Reviews Drug Discovery
Publisher: Springer Science and Business Media LLC
Published: 2019-11-05
Volume: 19
Issue: 2
Pages: 77-78
ISSN: 1474-1776 (ISSN-L)
1474-1784
DOI: 10.1038/d41573-019-00180-y
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: www.springernature.com/gp/researchers/text-and-data-mining (tdm)
www.springernature.com/gp/researchers/text-and-data-mining (vor)
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

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