ReviewiScience2020
Rare Genetic Diseases: Nature's Experiments on Human Development.
Review in iScience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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
58 citing papers in PubMed, 98 citations in OpenAlex.
- Somatic mutations and genome mosaicism in aging and disease.Experimental & molecular medicine · 2026Review
- The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).Orphanet journal of rare diseases · 2026Article
- Leveraging large language models for rare disease named entity recognition.PLOS digital health · 2026Article
- Cell atlases and the developmental foundations of the phenotype.PLoS computational biology · 2026Article
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- Advances in Chemotherapy in Pediatrics Acute Lymphocytic Leukemia (Pall): Actions, Associated Risks and Emerging Therapies.Current pharmaceutical design · 2026Review
- Mapping the rare disease stakeholders in India.PLOS global public health · 2026Article
- On the topical issue of assisted dying: the insurmountable challenges of human existence, and the right to exit.Frontiers in public health · 2026Article
- First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain ofInternational journal of molecular sciences · 2025Article
- 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).Environmental and molecular mutagenesis · 2025Review
- Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review.Journal of medical Internet research · 2025Article
- Identification of Ageing-related Hub Genes in Humans, Mouse and Rat Based on Bioinformatics Analysis.Annals of neurosciences · 2025Article
- High-throughput behavioural phenotyping of 25 C. elegans disease models including patient-specific mutations.BMC biology · 2025Article
- Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.Orphanet journal of rare diseases · 2025Article
- AI-Based Facial Phenotyping Supports a Shared Molecular Axis inInternational journal of molecular sciences · 2025Article
- A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes.Molecular cytogenetics · 2025Article
- Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders.Diagnostics (Basel, Switzerland) · 2025Review
- Considerations for mRNA Product Development, Regulation and Deployment Across the Lifecycle.Vaccines · 2025Review
- A genetic variant inScience advances · 2025Article
- 2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.Neurobiology of disease · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases. We contend that the expanding catalog of mutations in ∼4,000 genes, which cause ∼6,500 diseases and their annotated phenotypes, offer a wide landscape for discovering fundamental mechanisms required for human development and involved in common diseases. Rare afflictions disproportionately affect the nervous system in children, but paradoxically, the majority of these disease-causing genes are evolutionarily ancient and ubiquitously expressed in human tissues. We propose that the biased prevalence of childhood rare diseases affecting nervous tissue results from the topological complexity of the protein interaction networks formed by ubiquitous and ancient proteins encoded by childhood disease genes. Finally, we illustrate these principles discussing Menkes disease, an example of the discovery power afforded by rare diseases.
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.