Unlocking Hope for the Ultra-Rare Conference in Warsaw

Cure HSPB8 attended ‘Unlocking Hope for the Ultra-Rare Conference in Warsaw’  

As representatives of Cure HSPB8, we had the privilege of attending the Unlocking Hope for the Ultra-Rare conference, organized by the PACS2 Research Foundation, on September 4-5 in Warsaw, Poland. This event brought together passionate individuals from around the world—patients, families, researchers, and advocates—who are united by the common goal of finding treatment options for ultra-rare diseases and the role of patients and families in the process. 

Hosted by the PACS2 Research Foundation, founded by a couple whose daughter is affected by a PACS2 gene mutation, the conference was a moving and insightful experience. Their story reminded us of the deep personal stakes behind the fight for rare disease research. As a fellow rare disease foundation, we share their determination to bring attention and resources to a field that often struggles for recognition and funding. 

The Mission Behind the PACS2 Research Foundation 

The founders of the PACS2 Research Foundation opened the conference by sharing their emotional journey as parents of a child with an ultra-rare disease. Their foundation's mission—building a community for patients, creating networking opportunities, and connecting patients with scientists—is one we deeply resonate with. Their efforts are not only about finding treatments, but also about ensuring that families facing similar challenges don’t have to go through the journey alone. 

This spirit of collaboration is at the heart of both our organizations. Ultra-rare diseases are notoriously difficult to research and treat, largely due to the small number of cases and the complexity of each condition. Yet, by fostering strong relationships between patient communities and researchers, we can accelerate progress. 

Global Perspectives  

During the conference, we had the chance to hear from leading scientists from across the globe who are dedicating their careers to understanding PACS2 syndrome. It was inspiring to see such a high level of international collaboration. The speakers shared both their advances and the challenges they face in pushing the boundaries of what we know about this condition. Their work mirrors the struggles we face in the broader rare disease community: the need for more data, more resources, and more awareness. 

Drug Repurposing and Cell Painting 

One of the most impactful presentations came from Dr. Ethan Perlstein, founder of Perlara PBC, who introduced us to the concepts of drug repurposing and cell painting. As a foundation focused on rare diseases, we found this approach particularly relevant. Drug repurposing, which involves identifying new uses for already approved drugs, offers an accelerated and more cost-effective route to treatments for ultra-rare conditions. Given the typically long timelines for drug development, this strategy provides much-needed hope for faster interventions. 

Dr. Perlstein also discussed cell painting, an innovative technique that uses imaging to map cellular structures in unprecedented detail. This method holds potential for uncovering new therapeutic targets for rare diseases, offering another avenue of exploration for conditions like PACS2 syndrome and beyond. 

Accelerating the Search for Treatments 

Another key speaker, Dr. Krzysztof Drabikowski, focused on the challenges of speeding up drug discovery for ultra-rare diseases while reducing costs. His insights on streamlining research processes, enhancing data sharing, and optimizing the development pipeline were particularly relevant to our own mission at Cure HSPB8. The financial burden of drug development is often a major barrier, especially for rare diseases. Dr. Drabikowski’s ideas for making this process more efficient give us hope that we can push for faster solutions, not just for PACS2 syndrome, but for the rare disease community as a whole. 

A United Front  

Attending the Unlocking Hope for the Ultra-Rare conference was an inspiring experience for us as advocates for rare diseases. Seeing the shared passion and determination of both the PACS2 Research Foundation and the global scientific community reminded us that we are not alone in this fight. The journey toward effective treatments for ultra-rare diseases is long and challenging, but together—through collaboration, innovation, and relentless advocacy—we can make meaningful advances.