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
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
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A 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
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k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology constructionPreprint
Mungall, 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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Additional file 3 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.20461975
Additional file 1 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.23354410
Additional file 1 of Use of the bibliometric in rare diseases: taking Wilson disease personally
Chen, L., Lou, Z., Fang, Y., Pan, L., Zhao, J., Zeng, Y., Wang, Y., Wang, N., & Ruan, B. (2022) · Figshare · doi:10.6084/m9.figshare.20407421
Additional file 1 of Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: a scoping review
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. H. (2024) · Figshare · doi:10.6084/m9.figshare.26736306
Additional file 2 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.26974443
Additional file 6 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.26647878
Additional file 9 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.23354434
Additional file 2 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.23354413
Additional file 5 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.19589250
Additional file 5 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.26647875
Additional file 3 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.26696073
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Barsbay, M. Ç., & AYDAMAK, M. Y. (2025) · BMC Health Services Research · doi:10.1186/s12913-025-13878-0
“Most rare diseases are genetic in origin [4], and their number continues to expand as new conditions are identified [5].”
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David, A., Alimohamed, M. Z., Modern, G., Mbarak, S., Mad-hy, H., Ozcan, B., Mtshali, N., Tshijila, H., du Plessis, K., Selebatso, E., et al. (2025) · Future Rare Diseases · doi:10.1080/23995270.2025.2607961
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Kamyk-Wawryszuk, A. (2025) · Springer eBooks · doi:10.1007/978-3-031-40858-8_483-1
Patient-to-patient phenotype matching enables rare disease gene prioritization beyond curated gene–phenotype associationsPreprint
Cooperstein, I. B., Ward, A., Kobren, S. N., Lebleu, E., Moore, B., Spillmann, R. C., Shashi, V., Undiagnosed Diseases Network, & Marth, G. (2026) · medRxiv · doi:10.64898/2026.01.15.26344236
“More than 80% of the approximately 10,000 recognized rare diseases are presumed to have a genetic basis, yet causal genes or variants have been identified for fewer than half [2, 3].”
Exploring the healthcare pathway experiences and quality of life of Moroccan children living with rare diseases
Hani, M. E., Ratbi, I., Zerkaoui, M., Jdioui, W., Rifai, L., Cherrah, Y., Izgua, A. T., & Serragui, S. (2026) · Neuropsychiatrie de l Enfance et de l Adolescence · doi:10.1016/j.neurenf.2026.01.003
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Mabbott, A. P., Knisley, L., & Scott, S. D. (2026) · Systematic Reviews · doi:10.1186/s13643-026-03094-0
VC-RDAgent: An efficient rare disease diagnosis agent via virtual case construction informed by hybrid statistical-metric and hyperbolic-semantic prioritizationPreprint
Liu, Y., Li, H., Jiang, P., Wu, L., Xie, Z., Ning, C., Kong, X., Wang, Y., Zhang, X., & Huang, Z. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.02.09.702153
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Brokamp, E., Arun, R., Antoniou, A. A., Chaudhari, B. P., & Wojcik, M. H. (2026) · medRxiv · doi:10.64898/2026.02.08.26345857
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Abarca-Barriga, H. H., Tello, R. A., Laso-Salazar, M. C., Serna‐Infantes, J. L., & Castro‐Mujica, M. D. C. (2026) · Future Rare Diseases · doi:10.1080/23995270.2026.2621388
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Nielsen, M. C., Hagen, C. M., Stoltze, U. K., Hansen, T. V. O., Nyegaard, M., Hjalgrim, H., Bækvad-Hansen, M., Byrjalsen, A., Schmiegelow, K., Wadt, K., et al. (2026) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqag021
“Depending on the definition, as many as 10 000 RDs have been identified [ 1 ], and it is estimated that at least 6% of the European population suffers from some RD [ 2 ].”
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Hollak, C. E. M., Rosenberg, N., Post, C., Stolwijk, N. N., Manders, E. A., Schoenmakers, D. H., Penninx, B. M. F., Reijnhout, N. D., Verdeyen, K., Jonker, R., et al. (2026) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.70146
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Bührman, E. A. M., Cornel, M. C., Oliveira‐Martins, S., de Kort, M., Boon, W., & Rigter, T. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04551-8
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Leal-Bernal, C., Neri-Morales, C., Rodríguez, G., Hernández, D. C., & Reynales, H. (2026) · Journal of Rare Diseases · doi:10.1007/s44162-026-00161-x
“An estimated 5,000–8,000 orphan diseases have been identified worldwide, yet Colombia only recognizes 2247 as per the 023 resolution of 2023 [13, 27].”
Comparative analysis of organizational and leadership success factors associated with fast-growing biomedical research
Balas, E. A., Abdelgawad, Y. H., Aubert, C., & Townsend, T. (2026) · Scientific Reports · doi:10.1038/s41598-026-41471-w
Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain
Calmaestra-Carrillo, E., Vernet, R., Torrent-Farnell, J., Arbiol-Rodríguez, I., Cardona, À., Grau‐Sánchez, J., Lavila, M. C., & Codern‐Bové, N. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04281-x
“Improving care for people living with RD is therefore considered both a public health challenge and a human rights priority in Europe [5, 6].”
Patient and Family Perspectives on Generative Artificial Intelligence Tools in Rare Diseases: An Exploratory Mixed Methods Online Survey (Preprint)Preprint
Blease, C., Jones, J. R., Blease, C. E., Kharko, A., Sanchez, C. G., & Mandl, K. D. (2026) · doi:10.2196/preprints.93720
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Panja, A., Tripathy, I., & Dolai, T. K. (2026) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-025-00831-3
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“Fig.1 illustrates the sequential rationale underlying the introduction, outlining the problem context, challenges, data augmentation approach, study methodology, and key findings in Progeria disease detection research [3].”
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“More than 70% of rare disease have a genetic origin (Groft et al., 2021; Haendel et al., 2020).”
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“Rare diseases are disorders that affect 0.1% of the population [46].”
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“The United Nations (UN) has urged all member states to accelerate their efforts to enhance the quality and equity of healthcare for the 263–446 million individuals living with RD, which include around 7.000 distinct conditions [5, 6].”
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Intrinsic and Extrinsic Challenges in Rare Diseases: Connecting Global Collaboration with National Health-System RealitiesPreprint
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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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