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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Therapies 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
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Classification, 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
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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
Self-citation
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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Kruszka, P. S., & Tekendo‐Ngongang, C. (2023) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32059 · Cited by 7
BBLN triggers CAMK2D pathology in mice under cardiac pressure overload and potentially in unrepaired hearts with tetralogy of Fallot
Alla, J. A., Langer, A., Wolf, S., Fu, X., Rageh, M. A., & Quitterer, U. (2023) · Nature Cardiovascular Research · doi:10.1038/s44161-023-00351-6 · Cited by 7
Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center
Eekhoff, E. M. W., Micha, D., Forouzanfar, T., de Vries, T. J., Netelenbos, J. C., Klein‐Nulend, J., van Loon, J. J. W. A., Lubbers, W. D., Schwarte, L. A., Schober, P. R., et al. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00481 · Cited by 7
“Their rarity and heterogeneity have unfortunately hindered their exploration at both clinical and scientific levels, even though more than 500 of the ∼7,000 rare diseases are bone disorders (1, 2).”
Background
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease
Aly, K. A., Moutaoufik, M. T., Phanse, S., Zhang, Q., & Babu, M. (2021) · iScience · doi:10.1016/j.isci.2020.102030 · Cited by 8
“An estimated 300 million people suffer from rare diseases (RDs) worldwide, and although every RD is uncommon by definition, there is anywhere between 5,000 and 8,000 of them, rendering RDs a frequently seen category in the clinic (Haendel et al., 2020; Nguengang Wakap et al., 2020).”
Background
The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases
Pieroni, F., Marrucci, S., Pietro, L. D., Berni, C., & Scaletti, C. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02947-4 · Cited by 6
“Currently, there are up to 8000 described rare diseases (RDs), collectively affecting 300 million people worldwide, 30 million in the EU [2].”
Background
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
Pucel, J., Briere, L. C., Reuter, C. M., Gochyyev, P., Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101115 · Cited by 7
Towards a sustainable rare disease and orphan drug ecosystem in Saudi Arabia: policy insights from a multi-stakeholder workshop
Abo-Zaid, G., Al‐Omar, H. A., Alrabiah, A., Almuaither, A., & McKnight, A. J. (2025) · Frontiers in Pharmacology · doi:10.3389/fphar.2025.1583477 · Cited by 6
The logic of medical reasoning: toward an integrated inductive, deductive, and abductive approach to clinical practices
Pietarinen, A., & Stanley, D. E. (2025) · Philosophy Ethics and Humanities in Medicine · doi:10.1186/s13010-025-00178-y · Cited by 7
“Second, the prevalence of extremely rare cases could in fact be high: Smith et al. [54] estimated that more hyperrare diseases (affecting < 1/10 8 individuals) prevail per capita than rare diseases, constituting 1/10 of all human illnesses alto-gether [20].”
A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis
Vukadin, L., Park, B., Mohamed, M., Li, H., Elkholy, A., Torrelli-Diljohn, A., Kim, J., Jeong, K., Murphy, J. M., Harvey, C. A., et al. (2024) · JCI Insight · doi:10.1172/jci.insight.175053 · Cited by 6
Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study
Boarini, M., Tremosini, M., Cecco, A. D., Gnoli, M., Brizola, E., Mordenti, M., Pedrini, E., Locatelli, M., Lanza, M., Antonioli, D., et al. (2024) · Quality of Life Research · doi:10.1007/s11136-024-03604-4 · Cited by 6
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study
Inhestern, L., Otto, R., Brandt, M., Zybarth, D., Oheim, R., Schüler, H., Mir, T. S., Tsiakas, K., Dibaj, P., Zschüntzsch, J., et al. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03207-9 · Cited by 6
“Correspondingly, about 18–30 million persons in the EU and 262–446 million persons globally [2] are affected by one of the 6.000–8.000 known rare diseases [3].”
BackgroundInfluential
Obstacles to Early Diagnosis of Gaucher Disease
Nishimura, S., Ma, C., Sidransky, E., & Ryan, E. (2025) · Therapeutics and Clinical Risk Management · doi:10.2147/tcrm.s388266 · Cited by 6
Recent topics in musculoskeletal imaging focused on clinical applications of AI: How should radiologists approach and use AI?
Nozaki, T., Hashimoto, M., Ueda, D., Fujita, S., Fushimi, Y., Kamagata, K., Matsui, Y., Ito, R., Tsuboyama, T., Tatsugami, F., et al. (2025) · La radiologia medica · doi:10.1007/s11547-024-01947-z · Cited by 6
“Despite the need for an accurate and timely diagnosis, many people with rare diseases remain misdiagnosed or undiagnosed for many years [91–93].”
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Groeneweg, S., van Geest, F. S., Martín, M., Dias, M., Frazer, J., Medina‐Gómez, C., Sterenborg, R. B. T. M., Wang, H., Dolcetta‐Capuzzo, A., de Rooij, L. J., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-56628-w · Cited by 6
“13b, 16 – 20; Supplementary Information) allowed for the identi-ﬁ cationof seven critical regions inthe protein (Fig.”
Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper
Zozaya, N., Villaseca, J., Abdalla, F., Ancochea, A., Málaga, I., Trapero‐Bertran, M., Martín-Sobrino, N., Delgado, O., Ferré, P., & Hidalgo‐Vega, Á. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02635-3 · Cited by 6
“There are currently between 5000 and 8000 diagnosed RDs, with only 700 having a specific drug [13, 14].”
Background
Self-Reported Medication Adherence Measured with Morisky Scales in Rare Disease Patients: A Systematic Review and Meta-Analysis
García‐Muñoz, A. M., Victoria‐Montesinos, D., Cerdá, B., Ballester, P., Velasco, E., & Zafrilla, P. (2023) · Healthcare · doi:10.3390/healthcare11111609 · Cited by 10
“In Spain, we adhered to the criterion established by the European Union, considering a disease as rare when it affects no more than 1 person in 2000 [3,4,8].”
Method
Multidisciplinary clinical and translational approach for optimizing management for complex and rare conditions using Kabuki syndrome as example
Khalife, L., Gottlieb, R., Daly, T., Ma, X., Rashid, A., Funk, B., Gussoni, E., Hung, C., & Bodamer, O. A. (2023) · Rare · doi:10.1016/j.rare.2023.100008 · Cited by 6
Regarding the estimations of people affected by rare diseases
Vicente, E. F., Pruneda, L., & Ardanáz, E. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00763-z · Cited by 6
AutoRD: An Automatic and End-to-End System for Rare Disease Knowledge Graph Construction Based on Ontology-enhanced Large Language Models (Preprint)Preprint
Cao, L., Sun, J., & Cross, A. (2024) · doi:10.2196/preprints.60665 · Cited by 6
Knowledge Graphs and Explainable AI for Drug Repurposing on Rare DiseasesPreprint
Perdomo-Quinteiro, P., Wolstencroft, K., Roos, M., & Queralt-Rosiñach, N. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.17.618804 · Cited by 6
Health-related quality of life in patients with diverse rare diseases: An online survey
Rao, A., Yabumoto, M., Ward-Lev, E., Miller, E. G., Naik, H., & Halley, M. C. (2024) · Genetics in Medicine Open · doi:10.1016/j.gimo.2024.101889 · Cited by 5
Diagnostic scope: the AI can’t see what the mind doesn’t know
Weissman, G. E., Zwaan, L., & Bell, S. K. (2024) · Diagnosis · doi:10.1515/dx-2024-0151 · Cited by 5
“This latter category includes over 10,000 rare diseases, or “zebras” that are frequently missed during the diagnostic process [1, 2].”
Confirmatory Evidence Used in Non‐Oncologic Rare Disease New Molecular Entity Marketing Applications Approved by FDA, 2020–2023
Nugent, B. M., Ramamoorthy, A., Pippins, J. R., Pepe, S., Doi, M., Thomas, A., Bagheri, B., Welsh, C., Madabushi, R., & Lee, K. J. (2025) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.3630 · Cited by 5
Bioinformatics and AI/ML approaches using multi-omics data to accelerate diagnosis and delivery of precision care for patients with rare diseases
Singh, K., Usman, S., Zeeshan, S., Yanamala, N. V. K., Nichols, M., Bhise, V. V., Bokhari, S., Sengupta, P. P., & Ahmed, Z. (2025) · Methods in cell biology · doi:10.1016/bs.mcb.2025.03.018 · Cited by 5
Leveraging generative AI to assist biocuration of medical actions for rare disease
Niyonkuru, E., Caufield, J. H., Carmody, L., Gargano, M. A., Toro, S., Whetzel, P. L., Blau, H., Gomez, M. S., Casiraghi, E., Chimirri, L., et al. (2024) · Bioinformatics Advances · doi:10.1093/bioadv/vbaf141 · Cited by 5
“Despite over 10 000 rare diseases having been identified, fewer than 5% have FDA-approved treatments (Haendel et al. 2020, Fermaglich and Miller 2023).”
Self-citation
“Nobody listened to us for years”: Parents' experiences of provider communication in the diagnostic odyssey
Nguyen, M., Mahfoozi, S., Bonner, D. E., Martschenko, D. O., Giri, A., Tang, C., Bernstein, J. A., Wheeler, M. T., & Halley, M. C. (2025) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2025.109283 · Cited by 5
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
Reese, J., Chimirri, L., Bridges, Y., Danis, D., Caufield, J. H., Gargano, M. A., Kroll, C., Schmeder, A. W., Liu, F., Wissink, K., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02054-5 · Cited by 15
“Furthermore, affected individuals often experience a diagnostic odyssey lasting 5 – 7 years [1, 2].”
Self-citation
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Seyhan, A. A., & Carini, C. (2026) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2026.105461 · Cited by 7
Role of pharmacists in the context of rare diseases: a scoping review protocol
Cunico, C., & Leite, S. N. (2023) · BMJ Open · doi:10.1136/bmjopen-2023-072001 · Cited by 5
“16 Despite the availability of reports on the Orphanet 17 website that provide extensive lists of rare diseases, in the present study, a specific list of diseases is proposed.”
Background
Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat
Mele, B. H., Rossetti, F., Cubellis, M. V., Monticelli, M., & Andreotti, G. (2024) · Genes · doi:10.3390/genes15030290 · Cited by 5
“Nearly all rare diseases (their number is estimated to be between 5000 and 8000, with 7000 representing the most commonly cited number [7]) are Mendelian [8].”
Background
Rare disease data stewardship in Canada
Bernier, A. (2020) · FACETS · doi:10.1139/facets-2020-0050 · Cited by 5
Differential diagnosis of a diffuse sclerosis in an identified male skull (early 20th century Coimbra, Portugal): A multimethodological approach for the identification of osteosclerotic dysplasias in skeletonized individuals
Magalhães, B. M., Catarino, L., Carreiro, I., Gomes, R. A. M. P., Gaspar, R. R., Matos, V., & Santos, A. L. (2021) · International Journal of Paleopathology · doi:10.1016/j.ijpp.2021.06.002 · Cited by 5
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. X., Wang, N., & Ruan, B. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02459-7 · Cited by 5
“It is estimated the number of rare diseases is more than 10,000 [13].”
Background
Rare diseases and space health: optimizing synergies from scientific questions to care
Puscas, M., Martineau, G., Bhella, G., Bonnen, P. E., Carr, P., Lim, R. R., Mitchell, J. J., Osmond, M., Urquieta, E., Flamenbaum, J., et al. (2022) · npj Microgravity · doi:10.1038/s41526-022-00224-5 · Cited by 5
Drug repurposing of propafenone to discover novel anti-tumor agents by impairing homologous recombination to delay DNA damage recovery of rare disease conjunctival melanoma
Wei, J., Li, Y., Li, R., Chen, X., Yang, T., Liao, L., Xie, Y., Zhu, J., Mao, F., Jia, R., et al. (2023) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2023.115238 · Cited by 5
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Ette, E., Fadiran, E. O., Missling, C. U., & Hammond, E. R. (2023) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.15843 · Cited by 5
2017-2023: state of the art of gene therapies in rare diseases in Europe: the dynamics of clinical R&D, new approved treatments and expected therapies in the pipelines
Gicquel, T., Cortial, L., Lutsyk, K., Forget, S., Braun, S., Boyer, P.-O., Laugel, V., & Blin, O. J. (2023) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.29 · Cited by 5
A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG
Dalton, H. M., Young, N. J., Berman, A. R., Evans, H. D., Peterson, S. J., Patterson, K. A., & Chow, C. Y. (2024) · PLoS Genetics · doi:10.1371/journal.pgen.1011458 · Cited by 9
Randomized Controlled Trial Data for New Drug Application for Rare Diseases in Japan
Kubota, Y., & Narukawa, M. (2022) · Therapeutic Innovation & Regulatory Science · doi:10.1007/s43441-022-00404-1 · Cited by 5
“Nearly, 7,000 rare diseases have been identified; many of them occur in early childhood and have a genetic basis [1, 2].”
Background
Perry Disease: Bench to Bedside Circulation and a Team Approach
Mishima, T., Yuasa‐Kawada, J., Fujioka, S., & Tsuboi, Y. (2024) · Biomedicines · doi:10.3390/biomedicines12010113 · Cited by 5
“The low incidence of rare diseases influences patient resources, diagnostic and therapeutic approaches, and research on mechanisms and potential treatments [1].”
Background
ERCAL, a regional initiative for rare diseases in Latin America and the Caribbean
Gonzaga-Jauregui, C. G., Salazar, C., MacDonald, J., Reichardt, J. K. V., & Groft, S. C. (2024) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.48 · Cited by 4
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
Graefe, A. S. L., Rehburg, F., Alkarkoukly, S., Daniš, D., Grönke, A., Hübner, M. R., Bartschke, A., Debertshäuser, T., Klopfenstein, S. A. I., Saß, J., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00534-z · Cited by 4
Self-citation
RareArena: a comprehensive benchmark dataset unveiling the potential of large language models in rare disease diagnosis
Chen, H., Zhao, Z., Zhou, S., Hu, S., Wang, J., Jin, Y., Jin, X., Tham, Y. C., Wang, X., Ma, W., et al. (2026) · The Lancet Digital Health · doi:10.1016/j.landig.2025.100953 · Cited by 4
How to START? Four pillars to optimally begin your orphan drug development
Jonker, A. H., Batista, L., Gabaldo, M., Hivert, V., Ardigò, D., & TSC, O. B. O. T. I. O. T. A. I. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02845-9 · Cited by 4
“remain ‘neglected’ in terms of medicines development, and even pre-development research on basic pathophysiology mechanisms and on clinical presentation/ natural history are lacking [4–7].”
Background
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. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02987-w · Cited by 4
“Rare diseases are a group of diseases that are uncommon and have a very low prevalence compared to other diseases [1].”
Background
A Patient-Centric, Coordinated Care Model for Rare Diseases: The Multidisciplinary Consultation Program at Peking Union Medical College Hospital
Xie, J., Jin, Y., Shen, M., Chen, L., & Zhang, S. (2023) · NEJM Catalyst · doi:10.1056/cat.23.0297 · Cited by 4
Advancing rare disease measurement through the Rare Disease Clinical Outcome Assessment Consortium
Knoble, N. B., & Murray, L. T. (2024) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040241307962 · Cited by 4
Enhancing diagnostic precision for rare diseases using case-based reasoning
Noll, R., Berger, A., Facchinello, C., Stratmann, K., Schaaf, J., & Storf, H. (2025) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocaf092 · Cited by 4
Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)
Ta, D., Downs, J. A., Baynam, G. S., Wilson, A. C., Richmond, P., Schmidt, A., Decker, A., & Leonard, H. (2022) · Children · doi:10.3390/children9081111 · Cited by 4
“It is estimated that there are over 7000 rare diseases and about 250 new diseases are identified annually [2,3].”
BackgroundSelf-citation
The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time
Priolo, M., & Tartaglia, M. (2023) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph20054573 · Cited by 6
“In these cases, the first diagnosis is often delayed or wrong, and optimal clinical management is seldom achieved [20].”
Background
Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment
Larizza, L., & Cubellis, M. V. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24109064 · Cited by 7
“The number of recognized orphan diseases is usually around 7000, ranging from 5000 to 8000 according to different definitions [2].”
Background
Rare diseases in developing countries: Insights from China's collaborative network
Chen, J., Li, Y., & Chang, J. (2023) · The International Journal of Health Planning and Management · doi:10.1002/hpm.3712 · Cited by 4
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome
Onesimo, R., Sforza, E., Palermo, F., Giorgio, V., Leoni, C., Rigante, D., Trevisan, V., Agazzi, C., Limongelli, D., Proli, F., et al. (2024) · Genes · doi:10.3390/genes15091109 · Cited by 4
“It is estimated that rare diseases together represent up to 1/10 of all human diseases [20,21].”
Background
VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation
Heredia-Torrejón, M., Montañez, R., González‐Meneses, A., Carcavilla, A., Medina, M. Á., & Lechuga-Sancho, A. M. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03307-6 · Cited by 4
“Moreover, there are currently recognized between 5,000 and 10,000 RDs, depending on the source [137], providing a vast phenotypic landscape to explore the interdependence between variants and the unfolded phenotype.”
Background
Measuring the impact of rare diseases in Tasmania, Australia
Scanlon, P., Ridler, G., Say, G., Kellett, M., Charlesworth, J., Neil, A. L., Dickinson, J. L., Burdon, K. P., Jose, M., & Wallis, M. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03343-2 · Cited by 3
“There are over 7000 known RDs, which are primarily genetic in aetiology, and more than half affect children [2].”
Background
Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway
Rustad, C. F., Bragadóttir, R., Nordgarden, H., Miller, J. U., Weedon-Fekjær, M. S., Arfa, S., Åsten, P. M., Tveten, K., von der Lippe, C., & Sigurðardóttir, S. (2025) · BMJ Open · doi:10.1136/bmjopen-2024-095986 · Cited by 4
Clinical trials of orphan drugs in China over the decade 2012–2022: Opportunities and challenges
Wu, X., Xu, W., Yu, M., Zhang, F., & Wang, H. (2022) · Pharmacological Research · doi:10.1016/j.phrs.2022.106349 · Cited by 4
Randomized controlled trial data for successful new drug application for rare diseases in the United States
Kubota, Y., & Narukawa, M. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02702-9 · Cited by 4
“It is estimated that there are approximately 7,000 rare diseases worldwide, and approximately 30 million people in the US are afflicted with a rare disease [4, 5].”
Background
Boosting Transformers and Language Models for Clinical Prediction in Immunotherapy
Chen, Z., Balan, M. M., & Brown, K. M. (2023) · Proceedings of the conference - Association for Computational Linguistics. Meeting · doi:10.18653/v1/2023.acl-industry.32 · Cited by 40
Cross-border rare disease advocacy: Preethi Krishnaraj interviews Harsha Rajasimha
Krishnaraj, P., & Rajasimha, H. K. (2024) · Disease Models & Mechanisms · doi:10.1242/dmm.050672 · Cited by 4
The division of rare diseases research innovation at the national center for advancing translational sciences, NIH: mission, history, and current research activities
Brooks, P. J., Grady, A. C., Groft, S. C., Ho, L., Lumsden, J. M., Shah, M., Sid, E., Xu, Y., Tisdale, A., Dickens, J., et al. (2024) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.27 · Cited by 4
Examining of Health Policy in Rare Diseases in Terms of Historical Perspective in Turkey
Güre, M. D. P., & İNCE, Ö. (2021) · Journal of International Health Sciences and Management · doi:10.48121/jihsam.874683 · Cited by 4
Challenges and potential strategies utilizing external data for efficacy evaluation in small-sized clinical trials
Jiao, F., Chen, Y., Min, M., & Jiménez, S. (2022) · Journal of Biopharmaceutical Statistics · doi:10.1080/10543406.2021.2011906 · Cited by 4
“Although a particular rare disease may impact only a small number of individual patients, collectively roughly 30 million Americans are affected by one or more of the nearly 10,000 rare diseases (Griggs et al. 2009; Haendel et al. 2020).”
Background
3D Face Reconstruction with Mobile Phone Cameras for Rare Disease Diagnosis
Liu, Y., Li, L., An, S., Helmholz, P., Palmer, R., & Baynam, G. S. (2022) · Lecture notes in computer science · doi:10.1007/978-3-031-22695-3_38 · Cited by 4
Self-citation
A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 Gangliosidoses, and Ataxia TelangiectasiaPreprint
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. (2020) · medRxiv · doi:10.1101/2020.03.11.20034256 · Cited by 4
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 CasesPreprint
Chimirri, L., Caufield, J. H., Bridges, Y., Matentzoglu, N., Gargano, M. A., Cazalla, M., Chen, S., Daniš, D., Dingemans, A. J. M., Gehle, P., et al. (2025) · medRxiv · doi:10.1101/2025.02.26.25322769 · Cited by 4
“10 There are at least 10,000 RDs, 11 and the diagnostic yield of genomic sequencing is still low (25– 50%).”
Self-citation
Pivotal trial characteristics and types of endpoints used to support Food and Drug Administration rare disease drug approvals between 2013 and 2022
Hong, K., Nugent, B. M., Bandukwala, A., Schuck, R. N., Tomita, Y. A., Pepe, S., Doi, M., Winiecki, S. K., & Lee, K. J. (2025) · Clinical Trials · doi:10.1177/17407745241309318 · Cited by 3
“2–4 While individual conditions are rare, cumulatively rare diseases affect approximately 30 million individuals in the United States.”
Global partnerships in rare disease research
Rogić, S., Poirier‐Morency, G., Hieter, P., & Pavlidis, P. (2025) · Disease Models & Mechanisms · doi:10.1242/dmm.052401 · Cited by 3
An Additional Criterion to Appraisal of Guidelines for Research and Evaluation II Might Increase the Efficiency in Guideline Development for Rare Diseases: Results of a National Delphi Study
Hieltjes, I. J., Gaasterland, C. M. W., Bakx, R., van Breukelen, S., Ensink, R. J. H., van Esch, C., Hennekam, R. C. M., van Herk, I., Hermsen, M., Horemans, A. M. C., et al. (2025) · Clinical and Public Health Guidelines · doi:10.1002/gin2.70040 · Cited by 3
Mitigating Limited Data Challenges to Improve Artificial Intelligence Integration in Rare Disease Drug Development
Poddar, A., Innes, G. K., Liu, Q., Saha, A., Hanger, M., Franzetti, K., ElZarrad, M. K., & Fakhouri, T. H. I. (2025) · NEJM AI · doi:10.1056/aip2500802 · Cited by 3
Long-Term Follow-Up of Patients Receiving Cell and Gene Therapy Products
Irinyi, L., Mintzes, B. J., Warning, J., Collie, L., Rush, A., Turtle, C. J., & Byrne, J. A. (2025) · Human Gene Therapy · doi:10.1177/10430342251403439 · Cited by 3
“We are ambassadors, we are advocates”: rare disease patient advocacy groups as knowledge brokers across health and social systems—a qualitative study from Poland
Domaradzki, J. (2026) · Frontiers in Public Health · doi:10.3389/fpubh.2026.1743598 · Cited by 3
“Recent estimates suggest that over 10,000 RDs have been identified (4), affecting approximately 30 million people in the EU and between 2.5 and 3 million individuals in Poland (5).”
Influential
Improving the diagnosis of under-recognized, rare diseases in Asian populations: Systematic analysis of rare disease databases
Ih, D., Amaral, K., Shi, H., Jamal, A., Kikuta, N. T., Martin, G., Ren, L. Y., Srinivasan, M., Palaniappan, L. P., & Geng, L. N. (2024) · Journal of Asian Health · doi:10.59448/jah.v4i1.59 · Cited by 3
“While there are estimated to be more than 10,000 rare diseases globally, NORD and GARD only index 1,200 and 7,000, respectively (2, 19, 220).”
Background
Synchrotron Radiation: A Key Tool for Drug Discovery
Li, F., Liu, R., Li, W., Xie, M., & Qin, S. (2024) · Bioorganic & Medicinal Chemistry Letters · doi:10.1016/j.bmcl.2024.129990 · Cited by 4
Unleashing the Power of Induced Pluripotent stem Cells in in vitro Modelling of Lesch-Nyhan Disease
Javed, S., Fersini, M., & Bernardini, G. (2024) · Stem Cell Reviews and Reports · doi:10.1007/s12015-024-10821-4 · Cited by 3
“Although individually rare, taken together they affect between 5 and 10% of the global population [6, 12 ].”
Expediting treatments in the 21st century: orphan drugs and accelerated approvals
Domike, R., Raju, G. K. P., Sullivan, J. B., & Kennedy, A. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03398-1 · Cited by 3
Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop
Abo-Zaid, G., Al‐Omar, H. A., Alrabiah, A., Alomary, H., & McKnight, A. J. (2025) · Frontiers in Pharmacology · doi:10.3389/fphar.2025.1595967 · Cited by 3
Rare diseases load through the study of a regional population
Michel, É., Moreau, C., Gagnon, L., Gagnon, M., Leblanc, J., Tardif, J.-C., Girard, L., Mathieu, J., Gagnon, C., Desmeules, M., et al. (2025) · PLoS Genetics · doi:10.1371/journal.pgen.1011876 · Cited by 4
“Rare diseases are thought to collectively affect as much as 10% of the population [1].”
CURE ID : A Platform to Collect Real‐World Treatment Data for Drug Repurposing in Rare Genetic Disorders
Farid, T., Ruzhnikov, M. R. Z., Duggal, M., Tumas, K. C., Strongin, S. R., Sid, E., Fuchs, S. R., Sacks, L. V., Pichard, D. C., Pilgrim-Grayson, C., et al. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32153 · Cited by 3
“However, there are over 10,000 (Haendel et al. 2020) conditions that collectively affect millions of Americans (FDA 2024).”
Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study
Zhu, Q., Nguyễn, Ð.-T., Alyea, G., Hanson, K. J., Sid, E., & Pariser, A. (2020) · JMIR Medical Informatics · doi:10.2196/18395 · Cited by 4
“This is exemplified by the difficulty faced in accurately answering the question, how many total rare diseases are there? A recent report by Haendel et al [8], after an examination of multiple rare resources, concluded that “there are total of 10,393 rare diseases in MONDO.”
Background
Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach
Stanimirović, D., Murko, E., Battelino, T., Grošelj, U., & Tanšek, M. Ž. (2021) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph182312395 · Cited by 3
“Quality RD registries ipso facto provide a beneficial and applicable platform in all stages of evidence-informed healthcare policymaking, including economic evaluations, and may contribute to a significant advancement in the management of RDs in general [28].”
Background
COVID-19 and rare diseases: reflections and recommendations by the International Rare Diseases Research Consortium
Wang, C. M., Julkowska, D., Chan, C., Pearce, D. A., & Monaco, L. (2021) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2021.03 · Cited by 3
Impact of the Covid-19 epidemic on a US sample of patients with myasthenia gravis
Gutierrez, G., Girma, H., Kuhnell, P., Macaluso, M., & Kaminski, H. J. (2022) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040221082673 · Cited by 3
Künstliche Intelligenz und Gesundheit. Ethische, philosophische und sozialwissenschaftliche Explorationen
Sonar, A., & Weber, K. (2022) · Franz Steiner Verlag eBooks · doi:10.25162/9783515129770 · Cited by 5
What Are the Results of Limb Salvage Surgery for Primary Malignant Bone Tumor in the Forearm?
Liu, W., Yang, Y., Jin, T., Sun, Y., Li, Y., Hao, L., Zhang, Q., & Niu, X. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.822983 · Cited by 3
“This study included forearm primary malignant bone tumors to clarify (1) the epidemiological characteristics of primary malignant bone tumors in the forearm; (2) the oncological results and related risk factors; and (3) reconstruction methods and functional results after tumor resection.”
BackgroundMethodInfluential
A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes
Lyulcheva, E., & Bennett, D. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1107930 · Cited by 3
“Despite being individually uncommon, there is an estimated 10,000 rare conditions (Haendel et al., 2020) that collectively affect around 8% of the world population (Posey et al.”
Background
Blurred Boundaries: Toward an Expanded Ethics of Research and Clinical Care
Halley, M. C., & Olson, N. W. (2023) · The American Journal of Bioethics · doi:10.1080/15265161.2023.2224148 · Cited by 4
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) · BMC Bioinformatics · doi:10.1186/s12859-024-05674-0 · Cited by 3
“For example, there are more than 10,000 rare diseases [38] and most of the biomedical KBs have between 2000 and 9000 diseases [39].”
Background
Single-cell metabolomics in rare disease: From technology to disease
Li, L., Zhang, Y., Zhou, J., Wang, J., & Wang, L. (2024) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2023.01073 · Cited by 3
“Currently, around 6,000-8,000 RDs have been identified, but there are still many undiagnosed and unknown diseases ( 2 ).”
Are Current Educational and Therapeutic Programs, Directed at Rare Disease Transplant Candidates and Recipients, Sufficient to Support Them on the Path From Diagnosis to Life After Allogenic Transplantation?—Recommendations for Member State Policymakers
Bartoszewicz, M., Prokop, P., Kosieradzki, M., & Fiedor, P. S. (2024) · Transplantation Proceedings · doi:10.1016/j.transproceed.2024.01.064 · Cited by 3
A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome
Zykaj, E., Abboud, C., Asadi, P., Warsame, S., Almousa, H. A., Milev, M. P., Greco, B. M., López‐Sánchez, M., Bratkovic, D., Kachroo, A. H., et al. (2024) · Cells · doi:10.3390/cells13171457 · Cited by 5
Challenges in Cardiomyopathy Gene Therapy Clinical Trial Design
Satish, T., Hong, K. N., Kaski, J. P., & Greenberg, B. H. (2024) · JACC Heart Failure · doi:10.1016/j.jchf.2024.08.024 · Cited by 3
Population health management genomic new-born screens and multi-omics intercepts
Henry, J. A. (2025) · Frontiers in Artificial Intelligence · doi:10.3389/frai.2024.1496942 · Cited by 3
“A global rare disease spectrum has value in universal GNBS to identify thousands of diseases (Haendel et al., 2020; Kingsmore et al., 2022).”
Bridging the Gap With Clinical Pharmacology in Innovative Rare Disease Treatment Modalities: Targeting DNA to RNA to Protein
Lee, L., Gollen, R., Fathallah, A. M., Gao, L., & Patil, S. (2022) · The Journal of Clinical Pharmacology · doi:10.1002/jcph.2172 · Cited by 3
“therapies use the CRISPR-Cas9 system, which consists of 2 components: (1) a guide RNA that finds the DNA; and (2) a protein, Cas enzyme/nuclease, that cuts and edits the target DNA location.”
Background
Estimated genetics prevalence of early-onset Parkinson’s disease caused by PRKN mutationsPreprint
Diogo, D., Wong, E., DeBoever, C., Qü, W., Lee, J. H., Crawford, S., Hioki, T., Padmanabhan, J., Prilutsky, D., & Proetzel, G. (2024) · medRxiv · doi:10.1101/2024.01.22.24301610 · Cited by 2
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare DiseasePreprint
Niyonkuru, E., Caufield, J. H., Carmody, L., Gargano, M. A., Toro, S., Whetzel, T., Blau, H., Soto, M., Casiraghi, E., Chimirri, L., et al. (2024) · medRxiv · doi:10.1101/2024.08.22.24310814 · Cited by 3
“Despite over 10,000 rare diseases having been identified, fewer than 5% have FDA-approved treatments (2,3).”
BackgroundSelf-citation
Editorial: Studying rare diseases using induced pluripotent stem cell (iPSC)-based model systems
Francis, K. R., Chen, G., & Kiris, E. (2025) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2025.1686438 · Cited by 3
User Centered Rare Disease Clinical Trial Knowledge Graph (RCTKG)
Yang, J. P., Leadman, D., Ballew, R. M., Sid, E., Xu, Y., Mathé, E. A., & Zhu, Q. (2024) · Studies in health technology and informatics · doi:10.3233/shti230934 · Cited by 2
“Of the approximately 10,000 rare diseases, [1] 90% have no effective treatments [2].”
The Revolution of Genetic Diagnosis: An Example from Rare Disorders
Zampatti, S. (2024) · Genes · doi:10.3390/genes15101328 · Cited by 2
“In fact, it is estimated that 1 in 10 Americans is affected by a rare disease, a prevalence comparable to that of type 2 diabetes [8–11].”
Background
The application of the facial analysis program Face2Gene in a single genetic counseling center: a retrospective study
Yahya, D., Stoyanova, M., Hachmeriyan, M., & Levkova, M. (2025) · Egyptian Pediatric Association Gazette · doi:10.1186/s43054-025-00344-z · Cited by 2
“The current number of rare diseases, most known to be genetic, is beyond 6000 [4].”

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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