Collaboration is What Will Help Drive New Successes for the Rare Disease Community

Global Genes on the Critical Importance of Collaboration within the Rare Disease Community and Beyond

03.26.14 | By Stephanie Fischer

While the number of patients with any individual rare disease is relatively small (less than 200,000 in the U.S., as defined by the Orphan Drug Act of 1983), they collectively affect 1 in 10 Americans.  The community successfully comes together to raise awareness on international Rare Disease Day every February, but the challenge is how to maintain the momentum – and remain united - for the remaining 364 days of the year. 

Global Genes has been tackling this challenge since 2009, with a mission that centers on unifying and empowering the rare disease community.  It is fitting that our next guest blog in the series on collaboration in rare diseases is from Andrea Epstein, Executive Director of Global Genes. 

You can find the first two guest contributions in our series here (by Dr. Stephen Groft of the Office of Rare Diseases Research at the National Institutes of Health) and here (by Peter Saltonstall of the National Organization for Rare Disorders).


On the heels of the 7th annual World Rare Disease Day, rare disease stakeholders from across the globe gathered in places of business, at events, in schools, places of worship, all in an effort to build awareness collectively for rare disease, a cause affecting over 350 million people worldwide.   This has become the most successful campaign ever for rare diseases because it was the first truly collaborative effort, allowing individuals and organizations to become part of the global campaign while making their local efforts their own.  Collaboration for rare disease is progress, collaboration is essential, and collaboration is what will help drive new successes for the rare disease community now and well into the future.

Collaboration within Advocacy Community

At the grass roots level, we know that collaboration is critical for the many rare disease-specific non-profit organizations that have been established by parents, friends, and caregivers to push the envelope for funding research, support programs, treatments and ultimately cures for their loved ones. With only 15% of the 7,000 rare diseases having a foundation or support organization dedicated to a specific rare disorder, we know that that the vast majority of conditions have no designated support at all. And yet, for those that are established, collaboration is imperative so that each group is not re-inventing the wheel to push progress forward.

Global Genes™ has moved the needle in patient advocacy collaboration in multiple ways, and it’s evidence of the need and desire for these partnerships. Today, nearly 200 patient foundations represent our RARE Foundation Alliance and membership is continually growing. Our annual RARE Patient Advocacy Summit also continues to increase in both participation and demand for content – expanding this year to a 1 1/2 day event with more than 400 projected attendees. Strategies for fundraising, advocacy, resource development and research are shared needs that clearly benefit from collaborative strategies and programs.

Rare Disease Stakeholders Unite

Corporate collaboration further moves the needle in terms of pushing both needed educational programs and resources for the rare disease community.  The RARE Corporate Alliance is proof that corporate collaboration can yield powerful results.  Many of the educational resources that Global Genes™ makes available  -- including our webinars, toolkits and even our Patient Summit – originated through the creative think-tank of the RARE Corporate Alliance, and have been jointly supported through ongoing collaborative working groups.

Collaboration Disrupting on a Global Scale 

The Global Alliance for Genomics and Health (Global Alliance) was formed to help accelerate the potential of genomic medicine to advance human health. It brings together over one hundred and forty leading institutions working in healthcare, research, disease advocacy, life science, and information technology. The partners in the Global Alliance, including Global Genes ™, work together to create a common framework of harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data.

The work of the Global Alliance is critical to realizing the potential of recent technological advances that make possible the large-scale collection of data on genome sequencing and clinical outcomes.  In addition, the group is working to alter the current reality where data is kept and studied in silos, and tools and methods are non-standardized and incompatible.

Engaging collaboratively with its stakeholders, the Global Alliance works to establish, broadly disseminate, and advocate for the use of interoperable technical standards for managing and sharing genomic and clinical data.  The Global Alliance acts as a convener, bringing together global stakeholders across sectors to share and establish best practices and to cross-pollinate ideas and learning, fostering a culture of innovation and discovery. Global Alliance stakeholders work together to promote the highest standards for ethics, ensuring that participants have the choice to responsibly and securely share their genomic and clinical data to advance progress in science and medicine.

Collaboration and Innovation in Academia

On March 14-16,  in partnership with Massachussetts Institute of Technology (MIT) and the Kauffman Foundation, Global Genes participated in the first ever Grand Hackfest for Healthcare.  MIT H@cking Medicine brought together patients, engineers, designers, and entrepreneurs at MIT's Media Lab, with over 450 attendees and provided a rare opportunity to witness open collaboration between payors, clinicians, hospitals and patients to come with pilots that help diagnose and treat diseases, with a specific track devoted to rare diseases. The energy from events like this is always electric, and brings enthusiastic minds to work on the problems in healthcare today, to develop more and better solutions quickly.

Collaboration between advocates, industry, clinicians, payors, and medical institutions, on both a national and global scale, is gaining momentum.  It is the foundation for change and accelerated progress. And in the end, it will be these collaborative efforts that propel the development and access to new diagnostic and treatment tools desperately needed by rare disease patients worldwide.

Contact Global Genes (www.globalgenes.org) or Andrea Epstein, Executive Director andreae@rareproject.org, to find out more about unique collaborations happening to advance efforts in rare disease globally.  

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