ReviewOrphanet journal of rare diseases2018
From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.
Review in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 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
87 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Employment and work ability in individuals living with rare diseases: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- For Me, Quality of Life Is When I Get Through the Day Without Thinking: I Won't Make It: A Participatory Qualitative Study of Health-Related Quality of Life in Rare Liver Diseases.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Clinically distinct genetic diseases converge on shared, druggable nodes.Nature medicine · 2026Article
- Article
- Identifying the knowledge needs and preferences of parents of children with rare diseases regarding clinical trials: a scoping review protocol.Systematic reviews · 2026Article
- Mapping Health State Utility from Disease-Specific Measures in Spinal Muscular Atrophy and Paroxysmal Nocturnal Hemoglobinuria.PharmacoEconomics · 2026Article
- Trends in U.S. National Institutes of Health Funding for CHARGE Syndrome Research, 2000 to 2024.American journal of medical genetics. Part A · 2026Article
- Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies.Frontiers in molecular biosciences · 2026Review
- Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.Frontiers in public health · 2026Article
- Modulating splicing in 5' untranslated regions to treat rare haploinsufficient disease.bioRxiv : the preprint server for biology · 2025Article
- AΙ-Driven Drug Repurposing: Applications and Challenges.Medicines (Basel, Switzerland) · 2025Review
- Mitigating the impact of study-start delays in clinical trials for rare disorders: insights and lessons from a PKAN trial.Orphanet journal of rare diseases · 2025Article
- Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Nature medicine · 2025Article
- An Additional Criterion to Appraisal of Guidelines for Research and Evaluation II Might Increase the Efficiency in Guideline Development for Rare Diseases: Results of a National Delphi Study.Clinical and public health guidelines · 2025Article
- IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & Evidence.Clinical obesity · 2025Article
- Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.Orphanet journal of rare diseases · 2025Article
- Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.Orphanet journal of rare diseases · 2025Article
- Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil.Journal of community genetics · 2025Article
- Neutralizing Antibodies: Role in Immune Response and Viral Vector Based Gene Therapy.International journal of molecular sciences · 2025Review
- Plant molecular farming: a promising frontier for orphan drug production.Biotechnology letters · 2025Review
27 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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We now live in a time of unprecedented opportunities to turn scientific discoveries into better treatments for the estimated 30 million people in the US living with rare diseases. Despite these scientific advances, more than 90% of rare diseases still lack an effective treatment. New data and genetics technologies have resulted in the first transformational new treatments for a handful of rare diseases. This challenges us as a society to accelerate progress so that no disease and no patient is, ultimately, left behind in getting access to safe and effective therapeutics. This article reviews initiatives of the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR) that are aimed at catalyzing rare diseases research. These initiatives fall into two groups: Promoting information sharing; and building multi-disciplinary multi-stakeholder collaborations. Among ORDR's information sharing initiatives are GARD (The Genetics and Rare Diseases Information Center), RaDaR (The Rare Diseases Registries Program) and the NCATS Toolkit for Patient-Focused Therapy Development (Toolkit). Among the collaboration initiatives are the RDCRN (Rare Diseases Clinical Research Network), and the NCATS ORDR support for conferences and workshops. Despite the success of these programs, there remains substantial work to be done to build enhanced collaborations, clinical harmonization and interoperability, and stakeholder engagement so that the recent scientific advances can benefit all patients on the long list of rare diseases waiting for help.
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.