Patient and Stakeholder Engagement

“It Motivates Me Every Day”: Our Premier Research Team on Why Rare Disease Research Matters

There are as many as 7,000 distinct types of rare and genetic diseases, and an estimated 400 million people suffer from a rare disease globally. In addition, three of 10 children with a rare disease won’t live to see their fifth birthday. Rare Disease Day, celebrated around the world on the last day of February, is a day of observance to raise awareness for rare disease patients and their families while also improving access to treatment and medical representation.

At Premier Research, we recognize the importance of centering the patient perspective and building deep connections with advocacy groups and other stakeholders to help answer the unmet needs of patients across a broad range of medical conditions. Because we’re Built for Biotech℠, we share the passion and commitment of our sponsors when it comes to transforming life-changing ideas and breakthrough science into new medical treatments. We asked our project teams to share their stories about the importance of rare disease research –here’s what they said:

“Your perfectly happy and seemingly healthy five-year-old child says they want to be a doctor when they grow up. You know your beautiful baby will soon begin to show symptoms of a rare disease and won’t grow up. Few people understand what will happen, even fewer that can provide information, and there is no cure, no hope. Working in rare disease research is working to provide that hope, that information, and hopefully that cure.”

Ann Marie McCann, Associate Project Director

“A notable moment for me that highlights the importance of rare disease research is reflected in a conversation I had with a specialist at a rare disease conference. He shared that after collecting pediatric clinical trial data, his team performed the first adult study in a particular rare indication. Given that research is typically done in adult populations, I inquired about the evident shift with him. His response was that 20 years ago, children suffering from rare diseases typically did not survive childhood. Now there are enough rare disease patients who have matured into adulthood to allow further research into the adult implications of the condition to be collected and assessed. I found this amazing and profound, and felt quite proud that the work we do in this area makes an astonishing difference, not only to the children but to their families as well.”

Anthony Poynton, Senior Director, Program Delivery, Rare Disease & Pediatrics

“For me, rare disease research provides hope to patients and families that are often overlooked. It gives them options and a way forward that would otherwise not have been there.”

Hanna Wide, Executive Director, Gene and Cell Therapy

“Rare disease research teaches us to understand the fundamentals of human physiology and pathophysiology, which are often applicable to prevent more common diseases and disorders.”

Pawel Skowronski, M.D. Associate Project Director

“I have been working on rare disease projects for more than13 years. Rare disease studies are very often complex and demanding, but the working atmosphere and level of engagement created among the different teams–sponsor, investigational staff, vendors, and Premier Research–in connection with families is unique. I’m incredibly proud to be able to support these patients and their families in their journey. It motivates me every day.”

Elena Martinez, Senior Project Manager

“I have two family members with a rare genetic disorder and see first hand how treating the symptoms rather than the underlying condition is not a long-term solution for the best quality of life. My hope is that the work that we do every day helps shift this treatment paradigm to support the best outcomes for all patients with rare diseases.”

Jackie Brown, Executive Director, Program Delivery, Rare Disease & Pediatrics

“What I’ve learned from working with rare disease patients is to never give up – never give up on the work we are doing and never give up hope.  I’ve learned this from my friends and colleagues who have been impacted directly by a rare disease and from the parents and patients who have shared their personal stories to support disease awareness, shared their knowledge and experiences to educate sponsors and regulators, and contributed even more by participating in clinical research. I’ve witnessed life-changing drugs become available in my career and it’s important that we do not give up on bringing more effective treatment options to those with unmet need.”

Angi Robinson, Vice President, Specialty Areas

Follow the stories of those for whom rare disease research matters most at by following the hashtag #RareDiseaseDay. We are proud to partner with the companies that are advancing these critical life-changing therapies. For more information about our work, click here.