Training Course
Evaluation of Undiagnosed and Rare Conditions – May 12 and 13, 2026
Course Contents
- Day 1 (Click here to view the Day 1 recording)
- Module 1: A Practical Guide to the UDN Approach
- Module 2: The Clinical Evaluation
- Day 2 (Click here to view the Day 2 recording)
- Module 3: Strategies for Effective Diagnosis
- Module 4: Sequencing Analyses
- Module 5: Functional Study Approaches
Overview
The goal of this training course was to teach methods of undiagnosed patient evaluation to students, clinicians, and researchers so that they can apply them at their own institutions. After the course, attendees may refer particularly challenging cases to the Undiagnosed Diseases Network (UDN) but ideally will be able to diagnose and care for many patients with rare diseases locally.
The training was led by investigators from the UDN clinical sites, cores, and Data Management Coordinating Center along with the Undiagnosed Diseases Network Foundation (UDNF). Content includes effective strategies for diagnosis, the clinical evaluation, sequencing analysis and functional study approaches, with patient partnership highlighted throughout.
Target Audience
- Primary Care Physicians
- Specialty Physicians
Learning Objectives
Upon completion of this activity, participants were able to:
- Determine appropriate methods for clinical evaluation and phenotyping of patients with undiagnosed conditions.
- Apply or refer patients to specialists for advanced analysis of sequencing data.
- Identify strategies for incorporating basic research into the diagnostic process or introducing appropriate research for patients.
- Recognize how patient engagement can be leveraged to improve rare disease diagnosis.