Feb. 5, 2026

(RDCRN)

Millions of Americans live with rare diseases, and more than 10,000 conditions are known. Since studying the diseases and developing treatments can be extremely challenging, safe and effective treatments exist for only a small fraction of them and new rare diseases are continually being identified. Moreover, even when treatments are available, they often apply only to diseases that already have some form of research or drug development behind them. Despite the differences among the many rare diseases, they have common barriers to accessing new treatments, such as the rarity of patients, limited knowledge about the conditions, and the difficulty of transitioning drugs from research to actual treatments.

To help overcome these challenges, NIH’s Rare Diseases Clinical Research Network (RDCRN) supports clinical studies across multiple rare diseases. The network also fosters partnerships among researchers, patients and patient advocacy groups. This year, NIH has awarded grants to 10 new and five continuing RDCRN consortia. The new consortia include —

• Advancing Craniosynostosis Treatment (ACT) Rare Diseases Consortium — Children’s Hospital of Philadelphia
• Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC) — Children’s Hospital of Philadelphia
• Autoimmunity, Rasmussen’s, Inflammation & Status Epilepticus research Network (ARISEN) — Emory School of Medicine
• Batten Disease Clinical Research Consortium (BDCRC) — Kennedy Krieger Institute
• Initiation of a cohort to define pathogenic Mechanisms, Precision diagnosis And Complications of Thrombotic Microangiopathies: The IMPACT Study (IMPACT) — Johns Hopkins Medicine
• Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) — Children’s Hospital Colorado Anschutz Medical Campus
• Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases (PFN-STRIDE) — Children’s Hospital of Philadelphia
• Rare Bronchiectatic Diseases Consortium (RBDC) — The University of North Carolina at Chapel Hill
• Rare Organic Acidemias Research Consortium (ROAR) — Baylor College of Medicine
• Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) — Boston Children’s Hospital

Each RDCRN consortium is composed of scientists working at various clinical sites to study at least three rare diseases. As Tiina K. Urv, Ph.D., NCATS’ program director for the RDCRN, explains, “the network provides a collaborative infrastructure that helps these consortia tackle common challenges while focusing on their specific diseases. This allows them to more effectively advance research and move toward new treatments.”

The RDCRN’s Data Management and Coordinating Center (DMCC) plays a vital role in supporting the network’s work. It helps coordinate activities across consortia, standardizes data collection, and assists with clinical research management and regulatory concerns. “The RDCRN is like an ecosystem,” Urv says. “Everyone contributes something essential to help move research forward and improve the lives of patients.”

Consortia can receive funding for up to three cycles of five years each. When they reach their 15-year funding limit, they “graduate” and become independent, opening the door for new groups to develop their research. The RDCRN fosters collaboration between continuing and new consortia, allowing them to learn from each other and build a stronger foundation for future research.

One of the RDCRN’s key focuses is ensuring that research discoveries can be applied quickly in clinical settings. By expanding its expertise to more conditions, the RDCRN increases the chances of finding solutions that could help multiple diseases, aligning well to NCATS translational science principles. The DMCC helps facilitate this by managing shared resources and standardizing data, allowing researchers to efficiently share information and expand the reach of their findings.

Since its launch in 2003, the RDCRN has studied more than 280 rare diseases across 350+ sites in the United States. More than 40,000 patients have participated in these studies, and the research has led to the approval of 12 treatments by the U.S. Food and Drug Administration for 11 different rare diseases. Many clinical trials are also currently underway.

Several RDCRN-supported consortia have made significant breakthroughs in recent years. For example, the Developmental Synaptopathies Consortium has used genome sequencing to identify molecular diagnoses beyond the typical neurological features associated with Phelan-McDermid syndrome. This disease is typically linked to developmental delays and intellectual disabilities, but the team discovered additional features, such as clinical findings that had been previously overlooked. The results also highlighted some clinically actionable findings, suggesting that expanded sequencing could uncover even more variability in how the disease presents. This insight could lead to better diagnostic practices and potentially reveal new targets for therapy, helping doctors tailor treatments to individual patients more effectively.

Another promising development came from the Inherited Neuropathy Consortium. In a study of Canavan disease, the team used targeted long-read sequencing techniques to identify a retrotransposable element — a genetic mutation that had been missed using traditional short-read sequencing methods. This discovery is important because it shows that certain genetic markers for rare diseases may be missed if scientists rely solely on older diagnostic tools. With this new information, doctors can more accurately diagnose Canavan disease and distinguish it from other conditions that may present with similar symptoms. It also opens the door to developing therapies that target this specific genetic mutation.

Both of these breakthroughs illustrate the growing importance of precision diagnostics in the field of rare disease research. By using advanced sequencing methods, scientists are uncovering hidden complexities in rare diseases that could lead to new, more effective treatments. These discoveries not only improve our understanding of rare conditions but also pave the way for more personalized care and interventions.

The RDCRN continues to grow and evolve, offering more opportunities to study a wider range of rare diseases. The collaborative nature of the network — bringing together diverse experts and resources — helps address the multifaceted challenges faced by patients with rare conditions. “As the network expands, so does its impact,” says Urv. By uniting various research efforts, the RDCRN not only accelerates the search for new treatments but also lays the foundation for continued progress in rare disease research.