On September 14 - 16,advocates from across the globe will come together to for the 6th annual RARE Patient Advocacy Summit. This educational conference, by Global Genes, creates a space for members of the rare disease community to share best practices, create important introductions, and help catalyze powerful collaborations. Attendees share their experience, knowledge, and expertise as conference presenters and or participants.
We talked with Nicole Boice, Founder & CEO of Global Genes, about the organization's missions, challenges, and their hope for the future:
PRA is proud to sponsor this week’s RARE Patient Advocacy Summit with Global Genes. This year, we’re excited to host a collaborative art project for attendees. Get a behind-the-scenes look at the artist leading the project!
For people who are unfamiliar—tell us about Global Genes. How did it get started and how do you help rare disease patients and caregivers?
I founded Global Genes after I saw the harsh impact that navigating a rare disease, medical odyssey had on my dear friends shortly after their son was born. They faced so many unknowns, yet they were left to essentially fend for themselves. They started connecting with other parents of children with various diseases, many also undiagnosed. In forging these relationships, I saw the power in connecting, sharing, and learning from one another. This was the catalyst and inspiration to start Global Genes, whose mission is to help eliminate the challenges of rare disease faced by 350 million people worldwide. By building awareness, educating the global community, and providing critical connections and resources, Global Genes equips advocates in becoming successful activists for their disease.
What do you want people to know about rare diseases?
Everyone knows someone affected by rare disease. 1 in 10 Americans have a rare disease, which equates to roughly 30 million people. It is estimated that 60 million caregivers are also impacted. Statistically, each of us will know someone impacted by rare disease in our lifetime, each of whom will need support. For this reason, we all must #CareAboutRARE.
What are some of your biggest challenges?
To secure funding is challenging. Funding allows researchers to tackle difficult conditions, develops rare disease communities, provides needed support, and so much more. Considering that the rare disease community is the largest disease community worldwide, the amount of funds raised annually for rare disease is nominal. The rare disease community would benefit significantly from new funding sources, not only from within rare disease, but from the general populace and consumer brands as well.
What motivates you to do this work and what are you most proud of?
The resilient, courageous, and tenacious parent and patient advocates serve as a daily reminder that this community needs our help and support. Not only do they have to manage their daily lives with these difficult conditions, but they also have to be drivers and change-makers. They play an integral role in developing treatments, therapies, and cures, and they need our support to ensure their success. This is our motivation. I am incredibly proud of the Global Genes team, what we have built together as a community, and the tangible impact we continue to make on patients and families touched rare and genetic diseases around the world.
In your experience, what are some of the challenges and frustrations most rare disease patients and caregivers have and how do you try to address those?
Patients are understandably frustrated because they find themselves in a community that lacks clinical expertise, and in which patients usually know more than their physicians. There is no roadmap that directs a patient or caregiver as to how to manage a life-limiting/altering condition. We help patients understand the realities of rare disease, their roles, and how to be instrumental in creating forward movement for their individual disease and the broader community. We provide help and offer hope. Together, with members of the Rare Community, we are working to build that roadmap.
How do you try to advance rare disease research/knowledge?
Global Genes focuses primarily on the role of patients. This role is becoming more integral throughout the drug development cycle, and we provide tools and resources to help guide their endeavors. Our Medical and Scientific Advisory Board is currently developing ideas as to how to continue to best address this, which we are confident will have an important global impact for the Rare Community. . . more to come on this!
How can others help your mission?
One important fact is that millions of patients/advocates are not yet connected and therefore not being supported within the Rare Community. By raising awareness and promoting education about rare disease within their network of friends and family, individuals can support our mission by creating a broader community of support for those impacted by rare disease. They can also help raise much needed funds, either through Global Genes, or on behalf of a disease-specific foundation, to drive much-needed programs, support, and treatments.
This year’s RARE Patient Advocacy Summit theme is Connect. Collaborate. Advance. Why this theme and what are your goals this year?
This theme echoes our mission by helping patients and caregivers connect with each other, with experts, and with other critical stakeholders, to create forward movement for their disease, and the community at large. It is our objective to again exceed the expectations of every attendee. Our entire team is committed to working all year to create a world-class agenda that consists of thought leaders and industry experts in the areas of science, advocacy, business, care and support, and innovation. We know ‘It Takes a Village’, and it is our goal to create an environment that will facilitate important collaborations that accelerate and advance change that benefits the Rare Community.
Rare Diseases Newsletter
This quarterly publication strives to keep you up to date on PRA’s Center for Rare Diseases initiatives and activities. Interested in learning more…