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
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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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Items 101–200 of 574

Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach
Pampalone, G., Grottelli, S., Gatticchi, L., Lombardi, E. M., Bellezza, I., & Cellini, B. (2021) · Frontiers in Bioscience-Landmark · doi:10.52586/5056 · Cited by 18
“In the United States, a rare disease is a condition that affects less than 1 in 200,000 people, while in the European Union a disease is classified as rare if it affects less than that 1 in 2000 people [49].”
Background
Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational study
Thygesen, J. H., Zhang, H., Issa, H. G., Wu, J., Hama, T., Pinho‐Gomes, A., Groza, T., Khalid, S., Lumbers, T. R., Hocaoğlu, M., et al. (2025) · The Lancet Digital Health · doi:10.1016/s2589-7500(24)00253-x · Cited by 17
Self-citation
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Cooperstein, I. B., Marwaha, S., Ward, A. N., Kobren, S. N., Carter, J. N., Undiagnosed Diseases Network, Quinlan, A. R., Elkadri, A. A., Vanderver, A. L., Rebelo, A. P., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01546-1 · Cited by 17
“Fewer than half of the approximately 10,000 documented rare diseases have an identified genetic etiology; however, most are presumed to be genetic in origin [1, 2].”
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) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02852-w · Cited by 17
“Over 6,000 rare diseases have been identified, affecting 8–10% of the world’s population [4–6].”
Background
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
van Karnebeek, C., O’Donnell‐Luria, A., Baynam, G. S., Baudot, A., Groza, T., Jans, J. J. M., Lassmann, T., Letinturier, M. C. V., Montgomery, S. B., Robinson, P. N., et al. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03361-0 · Cited by 21
“Resources for RD definitions, gene mappings, and ontologies that enable NGS analysis and interpretation include Orphanet [31], UMLS [32], MonDO [33], and OMIM [21], and tools that aggregate data from these resources [34].”
BackgroundSelf-citation
Assessing DxGPT: Diagnosing Rare Diseases with Various Large Language ModelsPreprint
do Olmo, J., Logroño, J., Mascías, C., Martínez, M., & Isla, J. (2024) · medRxiv · doi:10.1101/2024.05.08.24307062 · Cited by 17
Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine
Kansal, R. (2025) · Children · doi:10.3390/children12040429 · Cited by 16
Capsid-Engineering for Central Nervous System-Directed Gene Therapy with Adeno-Associated Virus Vectors
Macdonald, J., Marx, J., & Büning, H. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.169 · Cited by 17
“115 In 2014, Lisowski et al. then used the capsid shufﬂing technique on AAV1, 2, 3, 4, 5, 6, 8, 9, avian AAV, and bovine AAV CAP genes.”
Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system
Spelbrink, E. M., Brown, T. L., Brimble, E., Blanco, K., Nye, K., & Porter, B. E. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1109547 · Cited by 16
“Although each disease is rare, up to 10,000 individual rare disorders impact, in total,more than 300 million people globally, making rare diseases a major public health problem (Haendel et al., 2020; Tisdale et al., 2021).”
Background
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) · Inflammation and Regeneration · doi:10.1186/s41232-023-00294-2 · Cited by 16
“…rare diseases are those that affect less than one person per 2,000 people (0.05% of the EU population), and in the United States (US), they are known to affect less than 200,000 people (about 0.06% of the US population) [1] The total number of rare diseases is estimated to be more than 7,000 [1].”
BackgroundInfluential
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
Garnier, N., Berghout, J., Zygmunt, A., Singh, D., Huang, K. A., Kantz, W., Blankart, C. R., Gillner, S., Zhao, J. L., Röttger, R., et al. (2023) · PLoS ONE · doi:10.1371/journal.pone.0293503 · Cited by 16
An Automatic and End-to-End System for Rare Disease Knowledge Graph Construction Based on Ontology-Enhanced Large Language Models: Development Study
Cao, L., Sun, J., & Cross, A. (2024) · JMIR Medical Informatics · doi:10.2196/60665 · Cited by 16
“Furthermore, the rare disease patient population, distributed across 5000 to 10,000 distinct diseases [4], suffers from a significant lack of medical knowledge due to the rarity of a given illness.”
Ensuring patient access to gene therapies for rare diseases: Navigating reimbursement and coverage challenges
Berry, D., Hickey, C., Kahlman, L., Long, J., Markus, C., & McCombs, C. K. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101403 · Cited by 16
The role of public health in rare diseases: hemophilia as an example
El-Sayed, A., Reiss, U. M., Hanna, D. A., & Bolous, N. S. (2025) · Frontiers in Public Health · doi:10.3389/fpubh.2025.1450625 · Cited by 16
“Recent estimates show that the number of currently identified rare diseases exceeds 10,390 (120), of which around 80% have a genetic origin and up to 75% have a pediatric onset (72, 79).”
How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases
Gresky, J., Dorn, J., Teßmann, B., & Petiti, E. (2021) · International Journal of Paleopathology · doi:10.1016/j.ijpp.2021.03.003 · Cited by 16
A scoping review of health literacy in rare disorders: key issues and research directions
Stenberg, U., Westfal, L., Rosenberger, A. D., Ørstavik, K., Flink, M., Holmen, H., Systad, S., Westermann, K. F., & Velvin, G. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03332-5 · Cited by 18
“However, it is plausible that the actual number may be as high as 10,000 [2].”
Background
Optimizing regulatory frameworks for gene therapies in rare diseases: Challenges and solutions
Berry, D., Donigan, K., Kahlman, L., Long, J., Markus, C., & McCombs, C. K. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101386 · Cited by 15
The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases
Rico, J. J. R., de Garibay, L. J. E. G., García, M. J. G., Guardiola-Vilarroig, S., Maceda-Roldán, L. A., Zurriaga, Ó., & Cavero‐Carbonell, C. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01763-y · Cited by 15
“Overall, an estimated range between 5,000 and 8,000 RDs is generally accepted[3].”
Background
Access to medicines for rare diseases: A European regulatory roadmap for academia
Rosenberg, N., van den Berg, S., Stolwijk, N. N., Jacobs, B., Post, H. C., Pasmooij, A. M. G., de Visser, S. J., & Hollak, C. E. M. (2023) · Frontiers in Pharmacology · doi:10.3389/fphar.2023.1142351 · Cited by 15
Getting the Dose Right in Drug Development for Rare Diseases: Barriers and Enablers
AHMED, M. A., Krishna, R., Rayad, N., Albusaysi, S., Mitra, A., Shang, E. Y., Hon, Y. Y., Abuasal, B., Bakhaidar, R. B., Roman, Y. M., et al. (2024) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.3407 · Cited by 15
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
Zhao, T., Fan, S., & Sun, L. (2021) · BMC Genomic Data · doi:10.1186/s12863-021-01010-0 · Cited by 15
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicinePreprint
Jacobsen, J. O. B., Baudis, M., Baynam, G. S., Beckmann, J. S., Beltrán, S., Callahan, T. J., Chute, C. G., Courtot, M., Daniš, D., Elemento, O., et al. (2021) · medRxiv · doi:10.1101/2021.11.27.21266944 · Cited by 15
“Over 10,000 rare diseases have been identified to date 58 , collectively affecting between 3.5% and 8% of the population, 59,60 yet many patients experience a long diagnostic odyssey of 5-7 years.”
BackgroundMethodInfluentialSelf-citation
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
Chimirri, L., Caufield, J. H., Bridges, Y., Matentzoglu, N., Gargano, M. A., Cazalla, M., Chen, S., Daniš, D., Dingemans, A. J. M., Gehle, K., et al. (2025) · EBioMedicine · doi:10.1016/j.ebiom.2025.105957 · Cited by 23
“10 There are at least 10,000 RDs, 11 and the diagnostic yield of genomic sequencing is still low (25–50%).”
Self-citation
Orofacial Manifestations Assisting the Diagnosis of Cowden Syndrome in a Middle-Aged Patient: Case Report and Literature Overview
Sousa‐Neto, S. S., de Arruda, J. A. A., Martins, A. F. L., Abreu, L. G., Mesquita, R. A., & Mendonça, E. F. (2021) · Head and Neck Pathology · doi:10.1007/s12105-021-01345-1 · Cited by 14
Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study
Yabumoto, M., Miller, E. G., Rao, A., Tabor, H. K., Ormond, K. E., & Halley, M. C. (2022) · Journal of Medical Internet Research · doi:10.2196/42084 · Cited by 15
“Over 10,000 different rare diseases collectively affect an estimated 300 million people worldwide [1].”
Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results
Ng, Ö. H., Sahin, I., Erbilgin, Y., Özdemir, Ö., Yücesan, E., Erturk, N., Yemenici, M., Doğan, Ö. A., İşerı̇, S. A. U., Satman, İ., et al. (2023) · Frontiers in Public Health · doi:10.3389/fpubh.2022.1049349 · Cited by 14
“In our respondents, almost 10% of the patients remained undiagnosed, around the same range as previous findings (6)(25).”
BackgroundResult
Toward representative genomic research: the children’s rare disease cohorts experience
Frazier, Z. J., Brown, E., Rockowitz, S., Lee, T., Zhang, B., Sveden, A., Chamberlin, N. L., Dies, K. A., Poduri, A., Piotr Sliz, A., et al. (2023) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040231181406 · Cited by 14
“Additionally, we identified racial and ethnic under-representation amongst three cohorts: (1) the general Boston Children’s Hospital patient population (general BCH), (2) the BCH patient population that underwent clinical genomic testing (clinical sequencing), and (3) Children’s Rare Disease Cohort (CRDC) research ini…”
BackgroundMethodInfluential
Surfacing undiagnosed disease: consideration, counting and coding
Baxter, M. F., Hansen, M., Gration, D., Groza, T., & Baynam, G. S. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1283880 · Cited by 14
Self-citation
Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions
Peter, C. S., Hossain, W. A., Lovell, S., Rafi, S. K., & Butler, M. G. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25052838 · Cited by 14
“Rare genetic disorders have been estimated to affect up to 10% of the population [1].”
Background
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
Howell, K. B., White, S. M., McTague, A., D’Gama, A. M., Costain, G., Poduri, A., Scheffer, I. E., Chau, V., Smith, L., Stephenson, S. E. M., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00474-8 · Cited by 14
Variants of uncertain significance: At the crux of diagnostic odyssey
Zawar, A., Manoj, G., Nair, P. P., Deshpande, P., Suravajhala, R., & Suravajhala, P. (2025) · Gene · doi:10.1016/j.gene.2025.149587 · Cited by 14
Clinical study applying machine learning to detect a rare disease: results and lessons learned
Hersh, W., Cohen, A. M., Nguyen, M., Bensching, K. L., & DeLoughery, T. G. (2022) · JAMIA Open · doi:10.1093/jamiaopen/ooac053 · Cited by 15
“There may be as many as 10 000 rare diseases that occur in humans.(4) These diseases often go undiagnosed for many years because they may resemble common diseases and their infrequent occurrence may result in physicians not considering”
Background
The RDI–Lancet Commission on Rare Diseases: improving visibility to address health-care disparities for 400 million people
Boycott, K. M., & Giugliani, R. (2025) · The Lancet · doi:10.1016/s0140-6736(25)00211-9 · Cited by 13
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. J., Brambilla, I., Buske, O. J., Conklin, L. S., Davies, E. H., Julkowska, D., Kim, Y.-J., et al. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02650-4 · Cited by 13
“A molecular basis of disease is estimated in more than 10,000 genetic and acquired rare diseases [2, 3].”
Background
RDKG-115: Assisting drug repurposing and discovery for rare diseases by trimodal knowledge graph embedding
Zhu, C., Xia, X., Li, N., Zhong, F., Yang, Z., & Liu, L. (2023) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2023.107262 · Cited by 15
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) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03342-3 · Cited by 13
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
Graefe, A. S. L., Hübner, M. R., Rehburg, F., Sander, S., Klopfenstein, S. A. I., Alkarkoukly, S., Grönke, A., Weyersberg, A., Daniš, D., Zschüntzsch, J., et al. (2025) · Scientific Data · doi:10.1038/s41597-025-04558-z · Cited by 13
Self-citation
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease
Carmody, L., Gargano, M. A., Toro, S., Vasilevsky, N., Adam, M. P., Blau, H., Chan, L., Gómez‐Andrés, D., Horváth, R., Kraus, M. L., et al. (2023) · Med · doi:10.1016/j.medj.2023.10.003 · Cited by 12
Self-citation
Rare genetic diseases in India: Steps toward a nationwide mission program
Kar, A., Sundaravadivel, P., & Dalal, A. B. (2024) · Journal of Biosciences · doi:10.1007/s12038-024-00430-1 · Cited by 11
“The European Union considers a disease to be rare when it affects fewer than 5 in 10,000 people (Haendel et al .”
Epigenetics in rare neurological diseases
Roberts, C.-T., Arezoumand, K. S., Shahib, A. K., Davie, J., & Rastegar, M. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2024.1413248 · Cited by 16
Rare Disease Drug Repurposing
Nijim, S., Korsunska, A., Zinski, J. M., Bolden, S. E., Zuccato, M., Repasky, M., & Fajgenbaum, D. C. (2025) · JAMA Network Open · doi:10.1001/jamanetworkopen.2025.8330 · Cited by 12
Licensing of Orphan Medicinal Products—Use of Real-World Data and Other External Data on Efficacy Aspects in Marketing Authorization Applications Concluded at the European Medicines Agency Between 2019 and 2021
Naumann‐Winter, F., Wolter, F., Hermes, U., Malikova, E., Lilienthal, N., Meier, T., Kalland, M. E., & Magrelli, A. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.920336 · Cited by 12
“In view that only 5% of the 5,000–8,000 rare diseases that are presently recognized (Haendel et al., 2020) have a treatment available, orphan designated medicinal products (MPs) correspond to an area where an increase in the efficiency of clinical development or regulatory decision making is especially needed (Europea…”
Background
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study
Soussand, L., Kuchenbuch, M., Messiaen, C., Sandrin, A., Jannot, A., & Nabbout, R. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02580-7 · Cited by 12
Using Peptide Nucleic Acid Hybridization Probes for Qualitative and Quantitative Analysis of Nucleic Acid Therapeutics by Capillary Electrophoresis
Hutanu, A., Signori, C., Moritz, B., Gregoritza, M., Rohde, A., & Schwarz, M. A. (2023) · Analytical Chemistry · doi:10.1021/acs.analchem.2c04813 · Cited by 12
Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.
Domaradzki, J., & Walkowiak, D. (2023) · European journal of paediatric neurology · doi:10.1016/j.ejpn.2023.12.003 · Cited by 10
Self-Supervised Forecasting in Electronic Health Records With Attention-Free Models
Kumar, Y., Ilin, A., Salo, H., Kulathinal, S., Leinonen, M. K., & Marttinen, P. (2024) · IEEE Transactions on Artificial Intelligence · doi:10.1109/tai.2024.3353164 · Cited by 11
“However, building specialized models for each subgroup is not feasible when the subgroup size is small [21], and training a single model for the entire population could yield inaccurate results for divergent subgroups.”
Background
Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey
Macaluso, M., Rothenberg, M. E., Ferkol, T. W., Kuhnell, P., Kaminski, H. J., Kimberlin, D. W., Benatar, M. G., & Chehade, M. (2024) · JMIR Public Health and Surveillance · doi:10.2196/48430 · Cited by 11
“The Genetic and Rare Disease information system of the National Center for Advancing Translational Sciences lists >10,000 RDs [55,56].”
Background
Advance Care Planning for Children With Rare Diseases: A Pilot RCT
Lyon, M. E., Fraser, J. L., Thompkins, J. D., Clark, H. L., Brodie, N., Detwiler, K., Torres, C., Guerrera, M. F., Younge, T., Aoun, S. M., et al. (2024) · PEDIATRICS · doi:10.1542/peds.2023-064557 · Cited by 12
“In God We Trust”: An Exploratory Study of the Associations Between Religiosity and the Caregiving Experiences of Parents of Children with Rare Diseases in Poland
Domaradzki, J., & Walkowiak, D. (2024) · Journal of religion and health · doi:10.1007/s10943-024-02095-4 · Cited by 9
“Although rare diseases (RDs) seem to be rare it is estimated that there are over 7,000 distinct conditions (Haendel et al., 2020; Rare-X, 2022).”
The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants
Aref, L., Bastarache, L. A., & Hughey, J. (2022) · Bioinformatics · doi:10.1093/bioinformatics/btac619 · Cited by 11
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm
Fujiwara, T., Shin, J., & Yamaguchi, A. (2022) · Human Mutation · doi:10.1002/humu.24341 · Cited by 10
Determining Commonalities in the Experiences of Patients with Rare Diseases: A Qualitative Analysis of US Food and Drug Administration Patient Engagement Sessions
Mease, C., Fermaglich, L. J., Jackler, K., Shermer, S., & Miller, K. L. (2023) · Patient · doi:10.1007/s40271-023-00648-5 · Cited by 10
“It is estimated that there are 7000–10,000 rare diseases, yet only approximately 5% have an approved treatment [2, 3].”
‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives
Kariyawasam, D. S. T., Scarfe, J., Meagher, C. E., Farrar, M. A., Bhattacharya, K., Carter, S. M., Newson, A. J., Otlowski, M. F. A., Watson, J., Millis, N., et al. (2024) · PLoS ONE · doi:10.1371/journal.pone.0299336 · Cited by 10
Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies
Jenkins, S. M., Palmquist, R. N., Shayota, B. J., Solorzano, C. M., Bonkowsky, J. L., Estabrooks, P. A., & Tristani‐Firouzi, M. (2025) · Pediatric Research · doi:10.1038/s41390-025-03859-8 · Cited by 12
Development and Testing of the Psychometric Properties of 20 Bolt-On Items for the EQ-5D-5L Across 31 Rare Diseases
Xu, R. H., Rencz, F., Sun, R., Dong, D., & Zhang, S. (2025) · Value in Health · doi:10.1016/j.jval.2025.01.006 · Cited by 14
Oral manifestations of Chediak-Higashi syndrome: A systematic review
de Arruda, J. A. A., Sousa‐Neto, S. S., Abreu, L. G., Schuch, L. F., Souza, V. G., Alves, T. V. L., Martins-Andrade, B., Shetty, S. S., Monteiro, J. L. G. C., Mendonça, E. F., et al. (2022) · Disease-a-Month · doi:10.1016/j.disamonth.2022.101356 · Cited by 10
Rare Disease Education Outside of the Classroom and Clinic: Evaluation of the RARE Compassion Program for Undergraduate Medical Students
Morgenthau, A., Margus, C., Mackley, M. P., & Miller, A. P. (2022) · Genes · doi:10.3390/genes13101707 · Cited by 10
Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience
Lomash, R. M., Shchelochkov, O. A., Chandler, R. J., NIH PaVe-GT Team, Venditti, C. P., Pariser, A., Ottinger, E. A., Averion Gilberto, V., Krishna, B., Bönnemann, C. G., et al. (2023) · Human Gene Therapy · doi:10.1089/hum.2022.232 · Cited by 10
“It is estimated that there are more than 7,000 rare diseases,(4,5) the majority of which are single gene disorders.(5,6)”
SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program
Hay, G. J., Klonek, F. E., Thomas, C. S., Bauskis, A., Baynam, G. S., & Parker, S. K. (2020) · Frontiers in Pediatrics · doi:10.3389/fped.2020.00582 · Cited by 10
“However, collectively, the ∼10,000 different rare diseases will affect 1 in 12 people in their lifetime (1, 2)—which is an estimated 25–30 million Americans (3).”
Self-citation
Rare immune diseases paving the road for genome editing-based precision medicine
Pavel-Dinu, M., Borna, Š., & Bacchetta, R. (2023) · Frontiers in Genome Editing · doi:10.3389/fgeed.2023.1114996 · Cited by 10
“Among the ~10,000 known rare monogenic diseases (Haendel et al., 2020), inborn errors of immunity (IEI), including Primary immunodeficiencies (PIDs) and Primary Immune Regulatory Disorders (PIRDs), are a growing class of rare diseases (Demirdag et al.”
Background
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
Reese, J. T., Chimirri, L., Bridges, Y., Danis, D., Caufield, J. H., Gargano, M. A., Kroll, C., Schmeder, A., Liu, F., Wissink, K., et al. (2024) · doi:10.1101/2024.07.22.24310816 · Cited by 8
“12,13 Here, we assess the diagnostic ability of LLMs in a large set of cases of Mendelian or chromosomal diseases, leveraging a collection of computational case reports recorded using the Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema.”
Self-citation
Pre-emptive pharmacogenetic testing in the acute hospital setting: a cross-sectional study
McDermott, J. H., Burke, K. A., Fullerton, N., O’Sullivan, J., Alex, A., Ingham, A., Sharma, V., Godfrey, N., Odudu, A., Syed, T., et al. (2024) · QJM · doi:10.1093/qjmed/hcae200 · Cited by 9
“22 This study demonstrates the relative ubiquity of pharmacogenetics as an intervention, with the vast majority of the cohort (97.9”
Influential
Realising the potential impact of artificial intelligence for rare diseases – A framework
Groza, T., Chan, C., Pearce, D. A., & Baynam, G. S. (2024) · Rare · doi:10.1016/j.rare.2024.100057 · Cited by 9
Self-citation
Integrating Machine Learning-Based Approaches into the Design of ASO Therapies
Leckie, J., & Yokota, T. (2025) · Genes · doi:10.3390/genes16020185 · Cited by 9
“Although each disease affects only a small number of people, there are approximately 8000 identified rare diseases, collectively impacting an estimated 3.5–5.9% of the global population [2,3].”
Influential
Health-related quality of life and productivity burden for non-professional caregivers of adults with rare diseases: a real-world study
Johnson, B., Gibson, G. A., Baskerville, D., Castellano, G., de Courcy, J. J., Iqbal, H., Piercy, J., Williams, A., Pinedo‐Villanueva, R., & Rylands, A. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03796-z · Cited by 9
“The Orphanet database holds data on 6172 different rare diseases [4], a recent international review suggested there are more than 10,000 rare diseases [16], and 6–8000 medical conditions are classified as rare diseases by the European Commission [17].”
Advancing gene-editing platforms to improve the viability of rare-disease therapeutics: key insights from a 2024 Scientific Exchange hosted by ARM, ISCT, and Danaher
Urnov, F. D., Kassim, S. H., Musunuru, K., Liu, D. R., Lee, A. Y., Barrera, L. A., Stetkiewicz, P., Bruno, J., Hewitt, M., Lister, T., et al. (2025) · Cytotherapy · doi:10.1016/j.jcyt.2025.06.010 · Cited by 9
An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation
Volgina, S. Y., & Sokolov, A. A. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.754073 · Cited by 9
“Currently it is assumed that the number of rare diseases exceeds 10,000 (Haendel et al., 2020).”
Background
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., Woo, J., & Lee, K. (2024) · Human Genomics · doi:10.1186/s40246-024-00595-8 · Cited by 11
“Rare disorders (RDs), 80% of which have genetic causes, are estimated to affect approximately 6% of the global population [1].”
Background
Hybrid Materials Based on Magnetic Iron Oxides with Benzothiazole Derivatives: A Plausible Potential Spectroscopy Probe
Corrêa, S., Rosa, I. A., Andolpho, G. A., de Assis, L. C., Pires, M. D. S., Lacerda, L. C. T., Nogueira, F. G. E., da Cunha, E. F. F., Nepovimová, E., Kuča, K., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22083980 · Cited by 9
“, drugs for rare diseases), and the difficulty of conducting research about new orphan drugs [1,2,4,5].”
Background
Finding commonalities in rare diseases through the undiagnosed diseases network
Yates, J., Gutiérrez‐Sacristán, A., Jouhet, V., LeBlanc, K., Esteves, C., Undiagnosed Diseases Network, DeSain, T., Benik, N., Stedman, J., Palmer, N., et al. (2021) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocab050 · Cited by 10
“33 Musculoskeletal 7 (3) 13 (6) 27 (3) 81 (10) 128 (12) Allergies and disorders of the immune system 2 (1) 17 (7) 6 (1) 31 (4) 56 (5)”
MethodInfluential
Attaining Diagnostic Excellence
Bordini, B. J., Walsh, R. D., Basel, D., & Deshmukh, T. K. (2023) · Medical Clinics of North America · doi:10.1016/j.mcna.2023.06.013 · Cited by 9
Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach
Scognamiglio, D., Boarini, M., la Forgia, M. C., Grippa, E., Forni, S., Sergi, A., Romeo, A., Massa, G., & Sangiorgi, L. (2023) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2023.104891 · Cited by 8
Digital child health: opportunities and obstacles. A joint statement of European Academy of Paediatrics and European Confederation of Primary Care Paediatricians
Siderius, L., Perera, S. D., Gelander, L., Jankauskaitė, L., Katz, M., Valiulis, A., Hadjipanayis, A., Reali, L., & Grossman, Z. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1264829 · Cited by 8
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments
Zardetto, B., Lauffer, M. C., van Roon‐Mom, W., Aartsma-Rus, A. M., & Collaborative, O. B. O. T. N. (2024) · Human Mutation · doi:10.1155/2024/9920230 · Cited by 8
“However, with an estimated 7,000 di ﬀ erent rare diseases [1], approximately 470 million people are a ﬀ ected worldwide [2].”
Background
Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials
Baynam, G. S., Baker, S., Steward, C. A., Summar, M. L., Halley, M. C., & Pariser, A. (2024) · Pharmaceutical Medicine · doi:10.1007/s40290-024-00529-8 · Cited by 8
“There are an estimated 10–12,000 different RD, [16] ~70–80% of which are rare genetic diseases, with the remainder including rare cancers, infections, poisonings, immune-related diseases, and undetermined conditions [17].”
Self-citation
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
Baldovino, S., Sciascia, S., Carta, C., Salvatore, M., Cellai, L. L., Ferrari, G., Lumaka, A. Z., Groft, S. C., Alanay, Y., Azam, M., et al. (2025) · Frontiers in Public Health · doi:10.3389/fpubh.2025.1510818 · Cited by 8
Self-citation
Diagnostic delays in rare genetic disorders with neuropsychiatric manifestations: A systematic review
Siegel, I. J., Vaithilingam, S. L., Hartig, M. M., Patty, E., Mantsch, L. E., & Garrison, S. R. (2025) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2025.105016 · Cited by 8
Organoids-on-Chips Technology: Unveiling New Perspectives in Rare-Disease Research
Li, X., Wang, H., You, X., & Zhao, G. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26094367 · Cited by 8
“Organoids are 3D, multicellular, self-assembling spheroids derived from various types of stem cells, including pluripotent stem cells (iPSCs), embryonic stem cells (ESCs), and tissue-specific stem cells, retaining the characteristic features of the corresponding organs [15,19].”
Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases
Tosi, L. L., Hart, T. S., Beug, G., Carter, E., & Perfetto, E. M. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03973-0 · Cited by 9
Leveraging the UMLS As a Data Standard for Rare Disease Data Normalization and Harmonization
Zhu, Q., Nguyễn, Ð.-T., Sid, E., & Pariser, A. (2020) · Methods of Information in Medicine · doi:10.1055/s-0040-1718940 · Cited by 8
“” 24 Applying the UMLS globally would help with this question by enabling cross-references to be made be-tween different rare disease resources without data discrepancy, as well as supporting further rare disease data harmonization.”
BackgroundMethod
SAT: a Surrogate-Assisted Two-wave case boosting sampling method, with application to EHR-based association studies
Liu, X., Chubak, J., Hubbard, R. A., & Chen, Y. (2021) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocab267 · Cited by 7
Clinical impact of allergy and pre-medication in CT studies with low-osmolality intravenous iodinated contrast media
Talmon, A., Tal, Y., Moss, J., Hershkowitz, I., Shaham, D., Sosna, J., & Hershko, A. Y. (2021) · Clinical Radiology · doi:10.1016/j.crad.2021.12.009 · Cited by 8
3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema
Jamuar, S. S., Palmer, R., Dawkins, H. J. S., Lee, D. W., Helmholz, P., & Baynam, G. S. (2023) · PLOS Digital Health · doi:10.1371/journal.pdig.0000090 · Cited by 8
“Rare diseases (RD) resulting from specific genetic variants affect about 6–8% of the population [1].”
BackgroundSelf-citation
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges
Yang, S., Kim, S.-H., Kang, M., & Joo, J. (2023) · Archives of Pharmacal Research · doi:10.1007/s12272-023-01450-5 · Cited by 8
“…disease, and epilepsy, while rare cases such as Fragile X syndrome (FXS), Rett syndrome (RTT), Creutzfeldt-Jakob disease (CJD), and amyotrophic lateral sclerosis (ASL) are defined as diagnostic cases in fewer than 1 in 2000 people (Sharma et al. 2019; Gilmour et al. 2020; Haendel et al. 2020).”
Background
Introducing the South African Rare Diseases Access Initiative
Malherbe, H. L. (2023) · South African Medical Journal · doi:10.7196/samj.2023.v113i8.1142 · Cited by 8
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) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02915-y · Cited by 8
“For instance, Tay-Sachs disease might be categorized as rare within the general populace, yet it has been found to be carried at a frequency of 1/25 amongst German Jews [15].”
Background
A ampliação do teste do pezinho no Brasil e suas implicações relativas à triagem neonatal, detecção das doenças raras e anormalidades congênitas
Perígolo, L. B. D. T., Menezes, R. B. S., Oliveira, I. C. D., Veiga, S. B., & Barbosa, J. D. S. P. (2022) · Revista Eletrônica Acervo Médico · doi:10.25248/reamed.e10861.2022 · Cited by 8
Advancing brain network models to reconcile functional neuroimaging and clinical research
Kobeleva, X., Varoquaux, G. P., Dagher, A., Adhikari, M. H., Grefkes, C., & Gilson, M. (2022) · NeuroImage Clinical · doi:10.1016/j.nicl.2022.103262 · Cited by 8
“To start with, diagnosis is often not standardized (Haendel et al., 2020; Klimova et al., 2017), which affects the positive predictive value of a test (i.e., the proportion of true positive results within all positive test results) depending on the prevalence of a disease.”
Overview of Clinical Pharmacology Packages of New Drug Applications Approved for the Treatment of Rare Diseases
Qosa, H., Hassan, H. E., & Younis, I. R. (2022) · The Journal of Clinical Pharmacology · doi:10.1002/jcph.2167 · Cited by 8
The Plight of Rare Diseases in Southern Africa: Health and Social Services Policy RecommendationsPreprint
Mwakilili, A. D., Alimohamed, M. Z., Modern, G., Mbarak, S., Ahmad, H., Ozcan, B., Mtshali, N., Tshijila, H., du Plessis, K., Selebatso, E., et al. (2023) · doi:10.32388/lghfl8 · Cited by 8
RDBridge: a knowledge graph of rare diseases based on large-scale text mining
Xing, H., Zhang, D., Cai, P., Zhang, R., & Hu, Q. (2023) · Bioinformatics · doi:10.1093/bioinformatics/btad440 · Cited by 7
“Rare diseases are medical conditions with a very low prevalence, typically defined as affecting fewer than 200 000 individuals in the USA or 1 in 2000 individuals in Europe (Haendel et al. 2020).”
Background
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) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02847-7 · Cited by 7
“Rare diseases are a general term for a group of diseases with extremely low incidence and prevalence, and there are more than 7,000 known rare diseases [1] in the world.”
Background
Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing ( IWGT )
Parsons, B. L., Beal, M. A., Dearfield, K. L., Douglas, G. R., Gi, M., Gollapudi, B. B., Heflich, R. H., Horibata, K., Kenyon, M., Long, A. S., et al. (2024) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22599 · Cited by 9
“It has been reported there are 5000 – 8000 rare genetic diseases that affect 30 million people in the United States (1 in every 10 individuals) and 300 – 400 million people world-wide (Haendel et al., 2020; Lee et al., 2020; Marwaha et al., 2022).”
Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
Weymann, D., Buckell, J., Fahr, P., Loewen, R., Ehman, M., Pollard, S., Friedman, J. M., Stöckler‐Ipsiroglu, S., Elliott, A. M., Wordsworth, S., et al. (2024) · JAMA Network Open · doi:10.1001/jamanetworkopen.2024.20842 · Cited by 7
Integrated Care for People Living With Rare Disease: A Scoping Review on Primary Care Models in Organization for Economic Cooperation and Development Countries
Vidic, N., McGlynn, A., Abdi, F., Tam, C. W. M., Crampton, R. M., Lim, K.-S., Palmer, E. E., Taylor, N. J., & Harris‐Roxas, B. (2025) · Journal of Primary Care & Community Health · doi:10.1177/21501319241311567 · Cited by 7
Latest developments of microphysiological systems (MPS) in aging-related and geriatric diseases research: A review
Song, C., Yang, J., & Gu, Z. (2025) · Ageing Research Reviews · doi:10.1016/j.arr.2025.102728 · Cited by 7
NADİR HASTALIĞI OLAN ÇOCUKLARIN AİLELERİNDE BAKIM YÜKÜNÜN İNCELENMESİ
Güre, M. D. P., & Gül, C. P. (2021) · Turkish Journal of Family Medicine & Primary Care · doi:10.21763/tjfmpc.841608 · Cited by 7
The international rare disease research consortium (IRDiRC): making rare disease research efforts more efficient and collaborative around the world
Chan, C., Parker, S. J., & Pearce, D. A. (2023) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.23 · Cited by 7
Differential Expression of Proteins in an Atypical Presentation of Autoimmune Lymphoproliferative Syndrome
Delgadillo-Álvarez, D. M., Céspedes-Cruz, A. I., Ríos‐Castro, E., Maldonado, M. G. R., López-Nogueda, M., Márquez-Gutierrez, M. A., Villalobos-Manzo, R., Ramírez-Reyes, L., Domínguez-Fuentes, M., & Tapia-Ramı́rez, J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23105366 · Cited by 7
“In addition, even taking into account the knowledge of a genetic cause in some rare diseases, their diagnosis is often delayed or wrong, and optimal clinical management is seldom achieved [32].”
Background
The Diagnostic Journey of Childhood Idiopathic Nephrotic Syndrome: Perspectives of Children and Their Caregivers
Okpere, A., Samuel, S. M., King‐Shier, K. M., Hamiwka, L. A., & Elliott, M. J. (2022) · Canadian Journal of Kidney Health and Disease · doi:10.1177/20543581221139025 · Cited by 7

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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