“Understand that we are the only ones capable of doing this task, because we’ve cared from the very beginning, because we have the capabilities, and because we can bring all the pieces together. So don't underestimate the power of what you do in the context of taking care of these kids . . .”.
Javier Garcia, Founder and Trustee of Fundación Columbus, shared that encouragement with attendees of the inaugural Rare Disease Day event hosted on February 28 by Viralgen in San Sebastian, Spain. In the audience were precisely the people who move gene therapy treatments for rare diseases from an idea all the way to a patient’s arm: Foundation and patient advocacy leaders, clinical researchers, and gene therapy manufacturers – including more than 200 Viralgen and TAAV employees.
All Rare Disease Day events, held in more than 100 countries this year, share an important goal: To increase awareness of the rare diseases that impact 300 million people around the world and to foster a better understanding of what it takes to address those rare diseases, 70% of which present at childhood.1 The inherent complexity of discovering and developing effective gene therapy treatments, as Viralgen and TAAV CEO Jimmy Vanhove explained, demands extraordinary resolve.
“There’s one thing that definitely stays with me, and it’s not about the technology,” Vanhove said. “The one thing I take away from today is ‘resilience.’ With the foundations, I’ve never seen so many people who are so resilient, who are so committed, and who never give up. And we as an industry, generally, and our team here at Viralgen, need to show those same behaviors.”
According to Sonia Vallabh, Ph.D., a Rare Disease Day presenter and Director of Prion Therapeutic Science at the Broad Institute, that spirit of tenacity can multiply when stakeholders representing various vantage points come together to share their unique experiences.
“Day to day, every role in this industry asks a lot of you,” she said. “And it’s easy to get swept into the routine, because even the routine itself is demanding. This is hard work. There’s a high failure rate in this industry . . . but coming together from a bunch of different perspectives to talk about the ways in which we can conspire to take some risks, to push the field forward, I think it starts with conversations, and I’m really grateful to have been able to have a lot of those kinds of conversations today.”
For Špela Miroševič, Co-Founder and President of the CTNNB1 Foundation, and mother to Urban, the fight against rare diseases is deeply personal. Faced with her son’s CTNNB1 Syndrome diagnosis and no available treatments, she took action, earning a PhD in biomedicine, founding a nonprofit, and dedicating herself to funding research and supporting families worldwide.
“We represent the rare disease community, and too often, no one cares. At Viralgen, we felt at home because they do care. They are helping patients,” she shared.
Špela’s mission extends far beyond her own family. The CTNNB1 Foundation now works to advance treatment solutions with the potential to reach clinical trials, while also advocating for equitable access to care — particularly in regions with limited resources. Špela’s story is a clear example of the critical role of patient advocates in driving innovation and ensuring that research remains patient-centered.
To hear more from Javier, Jimmy, Sonia, Špela and other Rare Disease Day presenters, simply click the button below.
About Rare Disease Day
Rare Disease Day is a globally coordinated movement dedicated to rare diseases, striving for equity in social opportunities, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Since its creation in 2008, Rare Disease Day has played a crucial role in building an international rare disease community—multi-disease, global, and diverse, yet united in purpose.
Rare Disease Day is observed every year on 28 February (or 29 February in leap years—the rarest day of the year). It was established and is coordinated by EURORDIS in partnership with over 70 national alliance patient organisations. The day serves as a powerful focal point, driving advocacy efforts at local, national, and international levels.
To learn more about Rare Disease Day, please visit: rarediseaseday.org.
1 Sources:
The landscape for rare diseases in 2024. The Lancet Global Health, Volume 12, Issue 3, e341.
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. The European Journal of Human Genetics. 2024 Sep; 32 (9): 1116-1126.
Genetic and Rare Diseases Information Center, National Center for Advancing Translational Sciences.