From the laboratory to the library; Rare disease research

Ever wonder what it takes for research to get from the laboratory to the library?

In the rare disease world patients, parents and healthcare providers have one thing in common, they all wish that research would be faster.  Our unifying goals – quicker diagnoses, effective treatments and ultimately the elusive cure all depend on the scientific knowledge exposed by researchers. We know that around the world, every day dedicated researchers are hard at work in their research labs and clinics, so why does it take so long before we ever get to see their findings?

Data collection is a long and complicated process but that’s not the only reason research takes time. That’s because even the simplest single person “Case Report” has to go through the most rigorous process of peer review by 2-3 scientists or doctors before being considered for publication.  To make sure doctors and patients are reading completely accurate information it can take months to scrutinize the information.  Even the spelling and grammar have to be as perfect as possible!  And that’s just to get it publisher-ready.

Research articles are published in medical journals and the publisher sells subscriptions to the journal. Purchasing a single article can be expensive.  If a researcher used funding from the NIH, that article will be freely available online as an “author’s draft.”  Some newer journals that are eager to find readers may allow their articles to be published at no charge.

Research on Myhre Syndrome is ongoing. Many of these Myhre research articles are considered in the public domain and so are freely available. Click on our Resource Library here at Myhre Syndrome Foundation to read some of them and check back often as we are always adding to our list.

Myhre Syndrome Foundation is proud to support and collaborate with scientific and medical communities to encourage and fund promising research. You too can support these dedicated scientists in their efforts to improve quality of life and long-term outcomes for Myhre children and adults. Click HERE to support their tireless efforts.  Alone we each can make a difference. Together we are Myhre Strong.

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