Sanford Research President Publishes Paper Focused on Health Care Access for Rare Disease Patients

David A. Pearce, PhD, president of Sanford Research, recently published a paper in the Orphanet Journal of Rare Diseases. The paper encompasses recommendations from a working group of the International Rare Disease Research Consortium (IRDiRC), assessing the impact of diagnoses and therapies of rare disease patients.   

Dr. Pearce also serves as chair of IRDiRC. He and his team of researchers have a dedicated passion in rare disease research, affecting 1 in 10 people in the world. 

In the paper, the working group found early access to diagnosis and therapies modifies the progression and management of rare diseases, positively impacting patients, their families and health care systems.  

The IRDiRC workgroup summarized a patient’s journey from diagnostic to clinical intervention, identifying tools or data sources that could be used to enhance the diagnosis and therapies for patients. 

“The goal many of us working in research have, is to help these rare disease patients and families solve some of the greatest challenges in receiving a proper diagnosis and treatment plan for a rare disease,” said David A. Pearce. “The work done by this workgroup recommends new metrics for the development of new tools to ensure more accurate diagnosis and to assess the impact of therapies and diagnosis on rare disease patients.” 

The IRDiRC is the largest rare disease research consortium in the world. The global initiative was formed to fund rare disease research and promote collaboration. Comprised of 60 members from organizations across the world, the initiative aims to accomplish the vision that everyone living with a rare disease should receive a precise analysis and care plan within one year of diagnosis of a rare disease.