The Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program, developed by ARPA-H, focuses on transforming how rare and ultra-rare diseases are diagnosed. With over 10,000 unique rare diseases affecting more than 350 million people globally, including one in ten Americans, diagnostic delays pose a significant challenge. On average, the diagnostic process for rare diseases spans six years and can last decades, leading to misdiagnoses, inappropriate care, and worsening patient outcomes. RAPID seeks to tackle this issue by leveraging AI and machine learning to create precise diagnostic tools for use by healthcare providers and patients alike.

RAPID's primary goal is to drastically reduce diagnostic times for rare diseases. The program aims to develop AI-driven models that can integrate seamlessly into existing healthcare systems while also supporting patient-focused tools that can operate remotely, enabling early detection in non-clinical environments. A key element of the program involves building the largest curated dataset of rare disease patient data to train and benchmark diagnostic algorithms. By advancing data interoperability and standardizing fragmented datasets, RAPID strives to make rare disease diagnostics scalable, accessible, and cost-effective across diverse healthcare systems.

The program is open to a variety of stakeholders, including research teams, patient advocacy groups, and healthcare organizations, emphasizing collaborative efforts. ARPA-H encourages forming multidisciplinary teams to ensure diverse technical expertise. Additionally, funding is anticipated for patient advocacy organizations to integrate patient perspectives into the program through the Patient Experience (PX) Partners initiative.

Proposals for the RAPID program must include innovative solutions that align with its mission to revolutionize rare disease diagnostics. Teams are encouraged to register for Proposers’ Day, an optional hybrid event in San Francisco on January 23, 2025, to gain insights into the program. Additionally, a Patients’ Day webinar on February 25, 2025, will provide advocacy groups with an opportunity to learn more about partnership opportunities.

The deadline for submitting solution summaries is February 14, 2025. Applicants must demonstrate how their proposed solutions address the program’s objectives, including integration into clinical workflows, cost-effectiveness, and scalability. Evaluation criteria will likely include the technical innovation of proposed models, potential impact on diagnostic timelines, and feasibility of integration into existing systems.

RAPID is a testament to ARPA-H's dedication to catalyzing innovations in underserved areas like rare disease diagnosis. By bringing together cutting-edge technology and patient-centered approaches, the program aims to make a profound impact on millions of individuals worldwide who face the challenges of rare diseases.