ReviewiScience2022
Estimating the number of diseases - the concept of rare, ultra-rare, and hyper-rare.
Review in iScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it, 87 citations in OpenAlex.
- The relative importance of severity and rarity criteria in health resource allocation: an umbrella review.International journal of technology assessment in health care · 2024Pooled it
- Evaluating the impact of leniolisib treatment on symptoms and health-related quality of life in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome.Frontiers in immunology · 2026Trial
- Unlocking MENA's potential in rare-disease precision medicine.Orphanet journal of rare diseases · 2026Article
- Diagnostic delay, care needs, and trust in healthcare among persons with rare disease and their next of kin living in Sweden.Journal of community genetics · 2026Article
- Awareness and perceptions of patient and public involvement in rare disease research in Japan: the role of patient advocacy groups and family members.Research involvement and engagement · 2026Article
- Regulatory Alignment on Surrogate Endpoints for Slowly Progressive Ultra-Rare Neurological Diseases: Bridging the Gap Between Biomarker Science and Global Regulatory Acceptance.Therapeutic innovation & regulatory science · 2026Review
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service Provision.Ophthalmology science · 2026Article
- A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Scientific reports · 2026Article
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- The Utility of Face2Gene App for Syndrome Recognition in Indian Children with Dysmorphism.Indian journal of pediatrics · 2026Article
- Rare Genetic Diseases with Founder Effect in Roma Children.Life (Basel, Switzerland) · 2026Article
- Rare genetic diseases associated with G-quadruplex-induced replication stress.Communications biology · 2026Review
- How to evaluate rare disease policy effectiveness based on policy modeling consistency (PMC) index model: A quantitative assessment of policy implementation in China.Intractable & rare diseases research · 2026Article
- Privacy-by-Design with Federated Learning will drive future Rare Disease Research.Journal of neuromuscular diseases · 2026Review
- "We are ambassadors, we are advocates": rare disease patient advocacy groups as knowledge brokers across health and social systems-a qualitative study from Poland.Frontiers in public health · 2026Article
- Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.International journal of molecular sciences · 2025Observational
- Feeding-Triggered Seizures in a Newborn withJournal of clinical medicine · 2025Article
- GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.NAR genomics and bioinformatics · 2025Article
- Response to "Is the UDN N-of-1 Enterprise Ethically Justifiable?"AMA journal of ethics · 2025Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an assessment suggests a considerably larger number. The majority would be extremely rare, and hence, we introduce the term "hyper-rare," defined as affecting <1/10
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.