ReviewThe EPMA journal2016
Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine.
Review in The EPMA journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed.
- Surrogate Biomarkers in Gene Therapy for Orphan Diseases: Validation, Application, and Regulatory Aspects.International journal of molecular sciences · 2025Review
- Insights Into the Pathological Glycosylation Associated With COG6-CDG.Human mutation · 2025Article
- Metabolic Biomarkers of Liver Failure in Cell Models and Patient Sera: Toward Liver Damage Evaluation In Vitro.International journal of molecular sciences · 2024Article
- Revolutionizing Personalized Medicine: Synergy with Multi-Omics Data Generation, Main Hurdles, and Future Perspectives.Biomedicines · 2024Review
- What public health challenges and unmet medical needs would benefit from interdisciplinary collaboration in the EU? A survey and multi-stakeholder debate.Frontiers in public health · 2024Article
- Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.Scientific reports · 2023Article
- Molecular biomarkers, network biomarkers, and dynamic network biomarkers for diagnosis and prediction of rare diseases.Fundamental research · 2022Review
- Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.Scientific reports · 2022Article
- Machine learning-based ABA treatment recommendation and personalization for autism spectrum disorder: an exploratory study.Brain informatics · 2022Article
- Biomarkers for drug development in propionic and methylmalonic acidemias.Journal of inherited metabolic disease · 2022Review
- GlcNAc-Asn is a biomarker for NGLY1 deficiency.Journal of biochemistry · 2022Article
- LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease.Journal of mass spectrometry and advances in the clinical lab · 2021Article
- Dried Blood Spot (DBS) Methodology Study for Biomarker Discovery in Lysosomal Storage Disease (LSD).Metabolites · 2021Article
- Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.Orphanet journal of rare diseases · 2021Article
- The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives.Frontiers in genetics · 2021Review
- Biomarkers in Rare Demyelinating Disease of the Central Nervous System.International journal of molecular sciences · 2020Review
- Diagnosing rare diseases after the exome.Cold Spring Harbor molecular case studies · 2018Review
- Article
- The MED13L Foundation strategic research plan: a roadmap to the future.Therapeutic advances in rare diseaseArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There are more than 8000 rare diseases (RDs) that affect >5 % of the world's population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging concept of the personalized medicine allows for early screening, diagnosis, and individualized treatment of human diseases. In this context, the discovery of biomarkers in RDs will be of prime importance to enable timely prevention and effective treatment. Since 80 % of RDs are of genetic origin, identification of new genes and causative mutations become valuable biomarkers. Furthermore, dynamic markers such as expressed genes, metabolites, and proteins are also very important to follow prognosis and response the therapy. Recent advances in omics technologies and their use in combination can define pathophysiological pathways that can be drug targets. Biomarker discovery and their use in diagnosis in RDs is a major pillar in RD research.
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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.