Hypothetically, lets just ask the question what would you do if you, a family member or a friend was diagnosed with a rare disease.. what would you do? If there was no cure where would the first place be that you would look for guidance? Wikipedia, Google probably would be first then these would point you to research papers. The scientists among you would go to PubMed straightaway and try to find what research had been done, track down the scientists etc. try to make their way through the papers on the topic and then maybe follow up by emailing or calling the researchers with questions.
What if you are new to this whole science endeavor, all of a sudden you are finding lists of relevant papers in PubMed, but when you click on the links to get the article you are sent to a publisher and asked to fork out cash to read the work. Then what do you do? I have heard and read about this scenario over and over again. I thought It was time to dig deeper and a single email triggered it.
Today I was sent a link to a couple of rare disease papers, both by different groups, both in Nature Reviews Drug Discovery from 2010. One came from a company and the other was from a group at the FDA. The paper from the company was behind a $32 paywall while the one from the FDA was accessible upon registration. This got me thinking, why should I even have to register to get access to papers that were likely written on government time, paid for by our taxes and yet published in a journal in the UK that presents a barrier to instant download?
I dug deeper to see how many other papers of potential interest were behind different journal paywalls. I found the following in an admittedly very quick search on the same group of authors. All locked behind paywalls.
Database identifies FDA-approved drugs with potential to be repurposed for treatment of orphan diseases.
The impact of the Orphan Drug Act on the development and advancement of neurological products for rare diseases: a descriptive review.
Source
Emergence of orphan drugs in the United States: a quantitative assessment of the first 25 years.
Duchenne muscular dystrophy: Drug development and regulatory considerations.
Orphan products: an emerging trend in drug approvals.
Primary melanomas of the esophagus and anorectum: epidemiologic comparison with melanoma of the skin.
Autologous cultured chondrocytes: adverse events reported to the United States Food and Drug Administration.
Botulinum toxin type A injections: adverse events reported to the US Food and Drug Administration in therapeutic and cosmetic cases.
Identification of drug modulators targeting gene-dosage disease CMT1A.
Source
National Center of Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland 20892, United States.
Research funding. A framework for decisions about research with HPAI H5N1 viruses.
Source
National Institutes of Health, Bethesda, MD 20892, USA. pattersa@od.nih.gov
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome.
Source
Program in Systems Biology, Department of Biochemistry and Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA
Reengineering translational science: the time is right.
Source
Office of the Director, National Institutes of Health, Bethesda, MD 20892-8004, USA. francis.collins@nih.gov
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