Building awareness and communities to support and find treatments for Rare Diseases and Genetic Conditions
Just one moment… As a documentary filmmaker sometimes that’s all I’m looking for. One moment that defines the story, something I couldn’t have planned for in pre-production, something that would never make it to the shot list because I couldn’t have imagined it. And it’s [...]
My eldest, a girl aged eight, is very prim and proper. She likes getting 10 out of 10 in her spelling tests, finishing all her homework and getting certificates. She would be mortified to arrive late for school, and she refuses to break any rules ever. If [...]
A key theme of the World Orphan Drug Congress 2013 was the need to innovate when it comes to the rare disease space. Presenters shared how rare diseases necessitate a different approach, ranging from clinical trials to working with patients and the US Food and [...]
If it seems like we are always asking ourselves this question, then that’s probably a good thing. All relationships require nurturing and regular self-examination. The only way to create strong partnerships is to ask ourselves now and then what we’re contributing and whether or not [...]
I attended the World Orphan Drug Congress last week in Washington, DC, and Siren Interactive presented the workshop, “A Roadmap for Patient Advocacy Investment.” In the rare disease space, patient engagement is critical to every step of a drug’s development, including filling clinical trials, getting [...]
Five years ago, I faced a decision that would have a major impact on my life. I was a senior in high school, and like many of my friends, I had to choose which colleges to apply to. For most high school students, searching for [...]
“The hardest thing about having an intellectual disability is the loneliness.” – John Franklin Stephens Over the past 12 years, I have learned this is true for many of our kids with intellectual and developmental disabilities– and even for their parents. When my daughter, Samantha, [...]
Nimbus Discovery splashed onto the scene in 2011 with a big-name investor group that included Bill Gates and a plan to discover drugs with the help of computer software. On Tuesday, that idea turned into a potentially big partnership with Shire to help conquer currently untouchable rare [...]
LYSOGENE announced today that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to its lead gene therapy product SAF-301 for the treatment of Sanfilippo type A syndrome (also named mucopolysaccharidosis type IIIA), a rare, genetic and life-threatening disease affecting children (http://www.accessdata.fda.gov). [...]
