From Arizona to Alabama: Raising Awareness For Rare Disease Week

Last week was Rare Disease Week, a special opportunity to raise critical awareness for rare disease. 

A disease is considered rare when it affects fewer than 200,000 people worldwide. With its worldwide prevalence of 70,000, Cystic Fibrosis is one of the better known rare diseases.

Interestingly, although individually the diseases are “rare,” collectively they are far from it. In fact, there are 7,000 rare diseases in total, affecting 350 million people worldwide. The ironic reality is that rare disease is actually quite common.

With our focus on nonsense mutations of CF, a rare group of mutations of this rare disease, Emily’s Entourage holds its “rare” badge close to it heart. It takes seriously the opportunity to leverage the energy around rare disease week to raise attention and accelerate research and drug development for all rare disease with a focus on nonsense mutations of Cystic Fibrosis.

That is why Emily spent last week zig zagging the country speaking at two different rare disease week symposiums.

Her first stop was Icagen’s inaugural Rare Disease Desert Symposium in Tucson, Arizona. A two-day event, the symposium brought together scientists, researchers, and executives from the pharmaceutical and biotech communities. The goal was to advance research and drug development for new therapeutics to treat rare diseases. Not hard to see why Emily’s Entourage was so thrilled to participate! 

Emily’s Entourage was honored to be an official “foundation partner” of Icagen’s Rare Disease Desert Symposium.

In addition, Emily’s Entourage was honored to be selected as one of the symposium’s official “foundation partners.” In recognition of that honor, Emily kicked off the second day of the conference with a powerful message about multi-stakeholder collaboration to accelerate scientific progress. In her remarks, she discussed the critical role patient- and family-led research foundations can play in expediting drug discovery and development.

Emily kicked off the second day of the conference with a powerful message about multi-stakeholder collaboration to accelerate scientific progress.

Next stop on the rare disease week journey was Birmingham, Alabama, where Emily spoke at the 5th Annual Rare Disease Genomics Symposium at the University of Alabama at Birmingham.

At the symposium, Emily discussed the crucial role of cross-functional teams with leadership from patients, families and foundations in ushering in the biomedical model of the future.

At the UAB Rare Disease Genomics Symposium, Emily spoke about the crucial role of cross-functional teams with leadership from patients, families and foundations in ushering in the biomedical model of the future.

“If you are looking to move the needle in treating rare disease, if you want be the brilliant brain power behind the breakthroughs of today and tomorrow, then I suggest you find yourself motivated, strategic, enterprising patients and families to be your partners. I promise there’s no project manager more effective, no collaborator more eager and resourceful than a desperate patient,” Emily declared.

One of the most staggering rare disease facts is that for the 7,000 rare diseases, there are approved treatments for only 5%.

Through these speaking engagements and our rare disease week social media efforts, Emily’s Entourage aimed to encourage authentic collaboration with patients, families and foundations with the ultimate goal of accelerating the development—and approval—of effective treatments and cures so we can change the number of people with treatments for their rare disease to 100%.

At Emily’s Entourage, it is our strong belief that no disease or mutation should be too rare to matter.

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