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Today is Rare Disease Day - an opportunity to improve awareness of rare diseases and improve support of research and support efforts for patients and their families.

From NIH News:

Rare Disease Day was established to raise public awareness about rare diseases, the challenges encountered by those affected, and the importance of research to develop diagnostics and treatments. There are about 7,000 rare diseases identified in the United States affecting an estimated 25 million Americans. About 80 percent of rare diseases are genetic in origin, and it is estimated that about half of all rare diseases affect children. In addition, what researchers learn by studying rare diseases often adds to the basic understanding of common diseases.

The NIH is hosting Rare Disease Day activities onsite. These activities include recognition of rare disease activities within different agencies and advocacy groups as well as presentations about new technologies.

Suggested Resources:

Also announced today at NIH is the Genetic Testing Registry (GTR) online tool which will be a useful resource for a variety of people and purposes.

From the press release:

In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test's clinical utility, or how likely the test is to improve patient outcomes.

Video tutorials are available on how to use GTR at GTR Overview and Searching & How to Locate a Genetic Test in Under Three Minutes. You can visit the tool directly at http://www.ncbi.nlm.nih.gov/gtr/.  

* Please note: Becker Briefs pages may contain links, email addresses or information about resources which are no longer current.