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Elevating Shwachman-Diamond Syndrome's Standing

From the Founder, Dr. Eszter Hars, Ph.D.


This week, I had the incredible honor to be invited to speak at the 2021 Global Genes RARE Patient Advocacy Summit, one of the world’s largest gatherings of rare disease patients, healthcare professionals, researchers, advocates and allies, which took place virtually September 27-29, 2021.

Presenting on the panel session focused on "Developing Impactful and Relevant Communication and Education Tools for Your Community" allowed me both to

  • raise awareness about Shwachman-Diamond Syndrome and our amazing community, and

  • share my passion for translating and communicating science to empower patients to advocate for themselves and for therapy development.

For rare disease communities, patient, caregiver, and physicians, education is often one of the core elements of advocacy work. This session offered tactical insights on developing impactful educational materials, programs, and tools around relevant topics for patient communities.

  • Demystifying emerging science and complexities of healthcare with accessible content

  • Empowering patients, families, and caregivers to advocate for themselves in care and research

  • Thinking outside the box – understanding how to build the right tools to fit your community

The RARE Patient Advocacy Summit provides participants with the opportunity to gain insight into the latest rare disease innovations, what’s on the horizon, and what individuals, advocacy leaders and communities can do to accelerate progress. It creates opportunities for stakeholders in rare diseases to connect, work together, share information, knowledge and resources, and build relationships to support and sustain collaboration beyond the Summit. Indeed, I feel so lucky to have been able to catch up with so many inspiring leaders and connect with so many new opportunities.


“This is a pivotal moment for progress in rare disease,” said Craig Martin, CEO of Global Genes. “We are excited to see numerous promising advancements in science and technology, which are leading us toward better understanding, diagnosis and treatment of rare diseases. Yet we also need to work together now to ensure that these innovations can inclusively and equitably benefit patients around the world as they become available. The RARE Patient Advocacy Summit provides an opportunity for the community to learn, connect and engage around topics and initiatives of importance.”

For more information and to register (to access the recordings), please visit: https://globalgenes.org/event/patient-summit/


About Global Genes®


Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. In pursuit of our mission, we connect, empower, and inspire the rare disease community to stand up, stand out, and become more effective on their own behalf ⁠— helping to spur innovation, meet essential needs, build capacity and knowledge, and drive progress within and across rare diseases. We serve the more than 400 million people around the globe and nearly one in 10 Americans affected by rare diseases. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit our Resource Hub.



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