NIH-funded research NIH-funded research

Improving diagnosis for patients with undiagnosed diseases

Official title: Clinical Research Support Core

Funded at Harvard Medical School · NIH-11056823 · Data updated 2026-11-12

This study is working to help people with rare and undiagnosed diseases get the right diagnosis faster by using advanced technology and connecting them with experts who can help.

Quick facts

Grant typeNIH-funded research
Study typeNIH-funded research
Funding institutionHarvard Medical School
NIH-funded
Lab location1 site (Boston, United States)
Project startApril 19, 2023
Project endMarch 31, 2028
Funding year2025
Award (this year)$1,838,239
NIH project number5U2CNS132415-03
Project IDNIH-11056823 on NIH RePORTER

Who could benefit from this research

Could help

Ideal candidates for this research are individuals with undiagnosed or rare diseases seeking accurate diagnosis and treatment options.

Less likely to help

Patients with well-defined and diagnosed conditions may not benefit from this research.

What this research studies

This research aims to enhance the diagnostic process for patients with undiagnosed and rare diseases by scaling up the individualized translational research methods developed in the Undiagnosed Diseases Network (UDN) and the Undiagnosed Diseases Program (UDP). It will utilize computational models to predict diagnosis likelihood and integrate with national and international matchmaking networks to broaden access to expert consultations. The project will also establish Case Review Committee meetings to streamline evaluations and provide funding to support data sharing and coordination among diagnostic centers.

Why it matters

Potential benefit: If successful, this research could significantly improve diagnostic accuracy and access for patients with undiagnosed diseases.

How similar studies have gone: Previous research has shown success in improving diagnostic processes for rare diseases through collaborative networks and computational modeling.

Where this research is happening

  • Harvard Medical School
    Boston, United States
    Active

Researchers

  • Principal investigator: Cole, Francis Sessions — Harvard Medical School
  • Study coordinator: Cole, Francis Sessions

Related research

Other NIH-funded projects on the same topics.

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.