ArticlePharmaceutical research2018
Doing it All - How Families are Reshaping Rare Disease Research.
Article in Pharmaceutical research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed.
- Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa.Journal of genetic counseling · 2026Article
- Descriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed disease community.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Developing Treatments for Rare Diseases on a Shoestring.GEN biotechnology · 2023Article
- Knowledge-based approaches to drug discovery for rare diseases.Drug discovery today · 2022Review
- Exploiting machine learning for end-to-end drug discovery and development.Nature materials · 2019Article
- Epidemiological challenges in pandemic coronavirus disease (COVID-19): Role of artificial intelligence.Wiley interdisciplinary reviews. Data mining and knowledge discoveryReview
- Use of the movie "Lorenzo's Oil" for didactic purposes in neuroscience and others health fields.Dementia & neuropsychologiaArticle
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
The face of rare disease drug discovery and development is changing right before our eyes. The outliers of the past were the plucky parents who summoned up the courage to try to treat their children against all odds. Think of the rare disease focused movies 'Lorenzo's Oil' and 'Extraordinary Measures' but now accelerated to develop treatments even quicker. Parents, patient advocates and their collaborators are now capable of doing it all themselves. We think this will have profound implications for everyone from the incumbent rare disease foundations that have held sway for decades to the multibillion dollar rare disease market, BioPharma companies, VCs and angel investors that inhabit this space. The repercussions of this disruption will no doubt impact healthcare in general and ultimately influence how we develop treatments for major diseases as well. We present several lines of evidence for our viewpoint from our personal experiences interacting with many rare disease families and patient advocates in recent years.
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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.