ArticleCell reports. Medicine2022
Why rare disease needs precision medicine-and precision medicine needs rare disease.
Article in Cell reports. Medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics.Frontiers in public health · 2025Pooled it
- GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.NAR genomics and bioinformatics · 2025Article
- Consumer Data is Key to Artificial Intelligence Value: Welcome to the Health Care Future.Journal of participatory medicine · 2025Article
- Automatic Classification and Visualization of Text Data on Rare Diseases.Journal of personalized medicine · 2024Article
- User Centered Rare Disease Clinical Trial Knowledge Graph (RCTKG).Studies in health technology and informatics · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Innovative research methodologies in the EU regulatory framework: an analysis of EMA qualification procedures from a pediatric perspective.Frontiers in medicine · 2024Article
- Editorial: Inborn errors of carbohydrate metabolism.Frontiers in genetics · 2024Article
- The Buzz Surrounding Precision Medicine: The Imperative of Incorporating It into Evidence-Based Medical Practice.Journal of personalized medicine · 2023Article
- AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation.Science advances · 2023Article
- Targeting shared molecular etiologies to accelerate drug development for rare diseases.EMBO molecular medicine · 2023Review
- Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment.International journal of molecular sciences · 2023Article
- The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.Journal of registry management · 2023Article
- BBLN triggers CAMK2D pathology in mice under cardiac pressure overload and potentially in unrepaired hearts with tetralogy of Fallot.Nature cardiovascular research · 2023Article
- Review
- The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren.Frontiers in artificial intelligence · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With one in ten suffering from one of 10,000 rare diseases, precision medicine opens a path toward identifying therapies for rare patients. Conversely, it is rare patients-through their collective experience and the knowledge captured in their genetics-who open the path toward identifying therapies for common patients.
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.