UAB Researcher Answered Questions for Families of Children with Rare Diseases


BIRMINGHAM, Alabama – Few people outside his laboratory at the University of Alabama at Birmingham knew or understood what researcher Jerry Thompson did. Over the years, thousands of families across the country relied on Thompson to tell them what was wrong with their children. If […]

Orphans No More: Renaissance in New Drugs for Rare Diseases


Once famously described as “orphan diseases, too small to be noticed, too small to be funded” in the Hollywood drama Lorenzo’s Oil, rare diseases are getting unprecedented attention today among drug manufacturers, who are ramping up research efforts and marketing new medicines that promise fuller lives […]

Charity Tuesday: Courage to Make a Difference


It’s Charity Tuesday and we want to give a shout-out to a new charity called “Courage to Make a Difference” founded by Chris Dutcher. Chris has Hunter Syndrome (MPS II) and wants to spread awareness for all MPS diseases. To learn more, check out the […]


Sanfilippo_Foundation_ for_Children

A Rare Disease Patient Perspective I would like to use this blog post to explain why the rare disease community is different, and why it deserves a different approach to the approval of treatment. This weekend I started reading Inside the FDA: the politics behind […]

Genzyme Announces Winners of Patient Advocacy Leadership Award Grants


CAMBRIDGE, Mass., Aug 17, 2011 (BUSINESS WIRE) — Genzyme, a Sanofi company, today announced the first recipients of the Genzyme Patient Advocacy Leadership (PAL) Awards. This global grant program supports non-profit organizations that work on behalf of patients living with lysosomal storage disorders (LSDs), a […]

San Francisco Giants to host Rare Disease Fundraiser for MPS IV – with YouTube sensation Keenan Cahill!


No Question, Brian Wilson and Cody Ross are truly dynamite!!! Check out this article and video and pass it on!

Former BioMarin exec targets orphan drugs

Emil Kakkis loves orphans. The former chief medical officer at BioMarin Pharmaceutical Inc. — the Novato-based poster child for developing treatments for so-called orphan drugs — is lining up cash and personnel for a new venture again aimed at rare diseases. “When you see patients […]