ArticleJournal of community genetics2018
Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.
Article in Journal of community genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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
26 citing papers in PubMed.
- Designing National Programmes for Expanded Carrier Screening: Results from a Discrete-Choice Experiment in Singapore.The patient · 2026Article
- Integrated Single-Strand DNA Capture and Haplotype-Guided Variant Calling Platform for Non-Invasive Prenatal Testing of Monogenic Disorders.Diagnostics (Basel, Switzerland) · 2026Article
- Appraisal of CRISPR Technology as an Innovative Screening to Therapeutic Toolkit for Genetic Disorders.Molecular biotechnology · 2026Review
- Article
- Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Nature medicine · 2025Article
- Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.Scientific reports · 2025Article
- IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles.Journal of assisted reproduction and genetics · 2025Article
- Personalized Medicine in Treating Rare Genetic Disorders: A Review.Journal of pharmacy & bioallied sciences · 2025Review
- Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.European journal of human genetics : EJHG · 2025Review
- Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.Prenatal diagnosis · 2025Article
- A bioinformatic analysis of gene editing off-target loci altered by common polymorphisms, using 'PopOff'.Journal of the Royal Society of New Zealand · 2025Article
- A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction.Human molecular genetics · 2024Article
- The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia.BMC public health · 2024Article
- DNA Released by Adeno-Associated Virus Strongly Alters Capsid Aggregation Kinetics in a Physiological Solution.Biomacromolecules · 2024Article
- Genome sequencing as a generic diagnostic strategy for rare disease.Genome medicine · 2024Article
- NovelMolecular syndromology · 2023Article
- Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.Children (Basel, Switzerland) · 2023Article
- Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Article
- Self-Amplifying RNA Approach for Protein Replacement Therapy.International journal of molecular sciences · 2022Review
- Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting).Journal of clinical pharmacology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmes have focused on common genetic disorders. Rare single gene disorders are an important source of morbidity and premature mortality for affected families. When considered collectively, they account for an important public health burden, which is frequently under-recognised. To document the collective frequency and health burden of rare single gene disorders, it is necessary to aggregate them into large manageable groupings and take account of their family implications, effective interventions and service needs. Here, we present an approach to estimate the burden of these conditions up to 5 years of age in settings without empirical data. This approaches uses population-level demographic data, combined with assumptions based on empirical data from settings with data available, to provide population-level estimates which programmes and policy-makers when planning services can use.
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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.