Evaluation of Undiagnosed and Rare Conditions

2024 Course Overview

Information for the 2025 course is not yet available.

The goal of this training program is 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, they 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.

We expect the majority of the training to be led by investigators from the UDN clinical sites and cores. Trainings will focus on current methods, lessons learned, challenges faced and near-term advances that are on the horizon for patients with undiagnosed conditions.

The course will be presented in an online format with a combination of educational slides, videos and other materials. The training will focus on different aspects of the UDN methodology, including the clinical evaluation, challenges in genomics care, implicit bias considerations, the patient journey and foundation support, and sequencing analysis and functional study approaches.

Who Should Attend

• Primary Care Physicians
• Specialty Physicians 

Learning Objectives

Upon completion of this activity, participants will be 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.