ArticleChest2013
Rare diseases research: expanding collaborative translational research opportunities.
Article in Chest, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed.
- Lymphangioleiomyomatosis Patient Research Priorities Survey (LAM-PREP): Developing a Patient-Centered Research Agenda.CHEST pulmonary · 2025Article
- The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.Healthcare (Basel, Switzerland) · 2025Article
- Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades.Orphanet journal of rare diseases · 2024Article
- Power analysis for idiographic (within-subject) clinical trials: Implications for treatments of rare conditions and precision medicine.Behavior research methods · 2023Article
- Making Sure That Orphan Incentives Tip the Right Way in Europe.Healthcare (Basel, Switzerland) · 2022Article
- A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China.Orphanet journal of rare diseases · 2021Article
- Biomarkers in Rare Demyelinating Disease of the Central Nervous System.International journal of molecular sciences · 2020Review
- Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China.Orphanet journal of rare diseases · 2020Article
- Application of median lethal concentration (LCBMC research notes · 2020Article
- Establishing Patient Registries for Rare Diseases: Rationale and Challenges.Pharmaceutical medicine · 2020Review
- The primary role of radiological imaging in the diagnosis of rare musculoskeletal diseases. Emphasis on ultrasound.Journal of ultrasonography · 2019Article
- Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia.Orphanet journal of rare diseases · 2019Article
- Foundation of the Newborn Screening Translational Research Network and its tools for research.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Article
- eRepo-ORP: Exploring the Opportunity Space to Combat Orphan Diseases with Existing Drugs.Journal of molecular biology · 2018Article
- Large-Scale Genomic Biobanks and Cardiovascular Disease.Current cardiology reports · 2018Review
- Mitochondrial disease patient motivations and barriers to participate in clinical trials.PloS one · 2018Article
- The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.European journal of human genetics : EJHG · 2017Article
- Autofluorescence imaging bronchoscopy as a novel approach to the management of tracheobronchopathia osteochondroplastica: a case report.Journal of thoracic disease · 2016Article
- Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?Genetics in medicine : official journal of the American College of Medical Genetics · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Extensive public-private partnerships, including the National Institutes of Health (NIH) and the rare diseases community, which is seeing a renewed industry interest in smaller niche markets, have resulted in an increase of interventions for rare diseases. Significant collaborative efforts are required among the pharmaceutical industry, foundations, patient-advocacy groups, academic and government investigators and funding programs, regulatory scientists, and reimbursement agencies to meet the unmet diagnostic and treatment needs for approximately 25 million people in the United States with 7,000 rare diseases. The expanding role and outreach activities of patient-advocacy groups have increased public awareness. In the United States, a rare disease is defined as a disorder or condition with a prevalence of <200,000 people. In 2011, the NIH provided >$3.5 billion for rare diseases research, including $750 million for orphan product development activities, nearly 11.4% of the NIH research budget. Several research institutes and centers of the NIH, including the National Center for Advancing Translational Sciences, have initiated varied translational research efforts to address the absence of preclinical and clinical data required for regulatory review purposes. Clinicians can expect to see significant increases in requests from patients and their families to participate in patient registries and natural history or observational studies to gather specific information from a larger pool of patients on the progression of the disease or response to treatments. An expanding emphasis on rare diseases provides hope for the millions of patients with rare diseases.
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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.