Office of Rare Diseases Research

Anne R. Pariser, M.D., Director of the Office of Rare Diseases Research

Office of Rare Diseases Research (ORDR) is a program within the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH) in the United States. The ORDR aims to advance medical research on rare diseases by supporting studies that can lead to the development of diagnostics, treatments, and cures for these conditions. Rare diseases are defined in the U.S. as those affecting fewer than 200,000 people.

Mission and Goals

The primary mission of the ORDR is to identify, research, and help develop treatments for rare diseases. The goals of the ORDR include fostering collaborations among researchers, serving as a central point of communication for rare diseases research, and promoting the sharing of research resources and strategies across the rare diseases community.

Programs and Initiatives

The ORDR supports a variety of programs and initiatives to achieve its mission:

• Rare Diseases Clinical Research Network (RDCRN): This network provides a framework for collaboration in rare diseases research, facilitating clinical studies and trials across different institutions and disciplines.
• Genetic and Rare Diseases Information Center (GARD): GARD offers information and support to patients, families, and healthcare providers about rare and genetic diseases.
• Rare Diseases Registry Program (RaDaR): RaDaR encourages the creation and development of patient registries for rare diseases, which are crucial for understanding these conditions and developing new treatments.

Collaborations

The ORDR collaborates with various stakeholders in the rare diseases community, including federal agencies, research institutions, patient advocacy groups, and pharmaceutical companies. These collaborations aim to leverage resources and expertise to accelerate the pace of rare diseases research and improve patient outcomes.

Challenges and Opportunities

Researching rare diseases presents unique challenges, such as small patient populations, limited understanding of disease mechanisms, and a lack of funding. However, the ORDR's work also offers significant opportunities to advance medical science, improve the lives of those with rare diseases, and develop innovative research methodologies that can be applied to other areas of health and disease.

Impact

The efforts of the ORDR have led to significant advancements in the understanding and treatment of rare diseases. By fostering collaboration and supporting research, the ORDR has contributed to the development of new diagnostics, treatments, and cures, improving the quality of life for patients with rare diseases and their families.