A Reason to Care About Rare: To Increase the Number of More Effective Treatment Options

March 6, 2013

Reposted from The Catalyst. Written by Stephanie Fischer.

While 400 therapies for rare diseases are worth celebrating, there is a lot more to learn about rare diseases in order to better diagnose and treat them. Many are inherited and caused by gene mutations, and new rare diseases are discovered every year.

I am fortunate that as a rare disease patient, I have several treatment options to discuss with my doctor (including some that are approved by the FDA but not yet specifically for my rare condition). Many rare disease patients have no effective treatment options.

Rare Disease Therapies in the Pipeline

A report on the biopharmaceutical pipeline released last month offers good news to patients desperately waiting for new therapies. It found there are nearly 1,795 potential therapies in the pipeline for orphan diseases. A companion report by PhRMA highlighted that “the number of potential new medicines for rare diseases averaged 140 per year in the last 10 years compared to 64 in the previous decade”

Get involved in International Rare Disease Day on February 28th by visiting and share this infographic on rare disease. Global Genes and the National Organization for Rare Disorders have additional information and resources for patients.

As the Global Genes tagline says, “Hope. It’s in our genes.”

Stephanie joined PhRMA’s communications team after nearly eight years with a biotech trade association. As a rare disease patient, she is very passionate about the need for public policy that encourages innovation and the development of safe and effective new therapies.

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