Patient-Centered Research Initiative

We believe that everyone deserves access to patient-centered research that will lead to a diagnosis and treatment for their condition, regardless of their financial status or where they live.

The Challenges of Research

The rarity and complexity of undiagnosed and ultra-rare conditions create an incredible challenge for medical professionals and researchers. Patients often experience a prolonged diagnostic odyssey, enduring uncertainty and misdiagnoses. The scarcity of patients with similar conditions impedes the formation of large study cohorts, hindering the ability to conduct robust clinical trials and investigations. As a result, uncovering the underlying mechanisms and effective treatments for these conditions becomes a daunting task, demanding new methodologies that transcend traditional research paradigms.

Additionally, the research infrastructure for undiagnosed and ultra-rare diseases is often fragmented, lacking cohesive collaboration between institutions, researchers, and clinicians, and often if just non-existent. This fragmentation curtails the efficient exchange of insights, data, and resources, slowing down the progress of discovery. Without a unified framework for knowledge sharing, the potential for cross-pollination of ideas and breakthroughs remains untapped. Furthermore, the financial burden associated with research and development for these conditions is considerable. Limited funding sources, compounded by the scarcity of diagnosed patients, restrict the allocation of resources necessary to drive meaningful progress in understanding underlying mechanisms and developing effective interventions.

Ultimately, these challenges underscore the urgent need for dedicated initiatives like the UDNF’s Patient-Centered Research Program. By addressing these hurdles head-on and fostering collaboration, innovative research methodologies, and increased funding, the program aims to unravel the mysteries of these diseases and provide access to patients and families who have long navigated the labyrinth of uncertainty.

The UDNF’s Vision

The UDNF collaborates closely with the Undiagnosed Diseases Network (UDN) to advance patient-centered research and clinical care, enabling undiagnosed patients and families to get the answers they desperately need. We envision a world where everyone with an undiagnosed and ultra-rare disease has access to research that will lead to a diagnosis and treatment for their condition. We believe that this can be achieved through a combination of strategies including:

Accelerating translational research: The UDNF will fund projects that ensure research studies are conducted in conjunction with clinical care, bridging the gap between scientific discovery and direct patient benefit. This integration will help expedite the translation of research findings into clinical practice, facilitating the timely identification of novel diagnostic methods and treatment options.

Strengthen the research infrastructure: A network of research sites transcends the boundaries of fragmentation that have traditionally hindered collaboration among researchers. By supporting collaboration among centers, the UDNF will foster a dynamic environment where researchers can pool their expertise, resources, and data.

Investments in advancing new technologies: By leveraging financial support from donors, the UDNF will help not only spur the initiation of more research studies but also accelerate the pace at which innovation can lead to groundbreaking discoveries. This heightened funding will increase the momentum of research initiatives and provide hope to patients and families awaiting answers.
Coordinated, integrated patient evaluation and follow-up: The UDNF will support research studies that incorporate both clinical and research tools to maximize the benefits of the research and to the patients and families who make it possible. This could include studies that use patient-owned data, such as genomic data, to identify new diagnostic markers and treatments.
A tiered, transparent set of resources: The UDNF will support a tiered system of research resources that provides efficient review and recommendations for all patients seeking diagnosis, with increasing resources based on need. This could include a system that prioritizes patients with rare or complex conditions, or patients who have not responded to traditional treatments.
Equitable access to research: The UDNF will support research that is accessible to patients and families from all backgrounds. Through community-based research, subsidy of patient expenses, and engagement with patients and families in the research process, the UDNF will foster an atmosphere where individuals from varied backgrounds are empowered to contribute to, and benefit from, scientific advancements.

The UDNF invites you to join its efforts in transforming lives. Your support, through donations and collaboration, will be instrumental in facilitating coordinated patient evaluation, supporting tiered research resources, and nurturing an inclusive research approach. Together, we hold the power to rewrite the narrative of undiagnosed diseases, ushering in a future where no one is left in a world of uncertainty.

Thank you for your support! Together, we can make a difference in the lives of patients with ultra-rare diseases.