ArticleJournal of general internal medicine2014
Important role of translational science in rare disease innovation, discovery, and drug development.
Article in Journal of general internal medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Impact of biobanks on research outcomes in rare diseases: a systematic review.Orphanet journal of rare diseases · 2018Pooled it
- Translational Pharmacokinetic/Pharmacodynamic Analysis of MYO-029 Antibody for Muscular Dystrophy.Clinical and translational science · 2016Trial
- Real-World Data Included in Post-authorisation Measures: A Case Study of Approved Advanced Therapy Medicinal Products in the European Union between 2013 and 2024.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2025Article
- Fine-tuning large language models for rare disease concept normalization.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Fine-tuning Large Language Models for Rare Disease Concept Normalization.bioRxiv : the preprint server for biology · 2024Article
- A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act.Orphanet journal of rare diseases · 2023Article
- Translating Clinical Research to Clinical Care in Nephrology: A Qualitative Study of Nephrology Clinicians.Kidney medicine · 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
- Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseases.Orphanet journal of rare diseases · 2021Article
- Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.Frontiers in genetics · 2021Article
- 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
- Challenges in Advanced Therapy Medicinal Product Development: A Survey among Companies in Europe.Molecular therapy. Methods & clinical development · 2018Article
- Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2017Article
- Enabling Anyone to Translate Clinically Relevant Ideas to Therapies.Pharmaceutical research · 2017Article
- Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.Molecular genetics and metabolism · 2016Review
- Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.Journal of neurology · 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
2 authors.
Funding
Abstract
Rare diseases play a leading role in innovation and the advancement of medical and pharmaceutical science. Most rare diseases are genetic disorders or atypical manifestations of infectious, immunologic, or oncologic diseases; they all provide opportunities to study extremes of human pathology and provide insight into both normal and aberrant physiology. Recently, drug development has become increasingly focused on classifying diseases largely on genetic grounds; this has allowed the identification of molecularly defined targets and the development of targeted therapies. Clinical trials are now focusing on progressively smaller subgroups within both common and rare disease populations, often based on genetic tests or biomarkers. Drug developers, researchers, and regulatory agencies face a variety of challenges throughout the life cycle of drug research and development for rare diseases. These include the small numbers of patients available for study, lack of knowledge of the disease's natural history, incomplete understanding of the basic mechanisms causing the disorder, and variability in disease severity, expression, and course. Traditional approaches to rare disease clinical research have not kept pace with advances in basic science, and increased attention to translational science is needed to address these challenges, especially diagnostic testing, registries, and novel trial designs.
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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.