Course
Evaluation of Undiagnosed and Rare Conditions
June 12, 2025 – Zoom Webinar
Overview
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.
The training will 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 a live online format with a combination of educational slides 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.
Register
Register HereThis training is provided at no cost and is open to all.
Agenda
Thursday, June 12, 2025
All times listed in Eastern Time
11:00-11:15 AM | Welcome and Course Introduction | Emily Glanton, MS, CGC | ||
| 11:15 AM-1:15 PM | Module 1: The Clinical Evaluation | Vandana Shashi, MD Camilo Toro, MD | ||
| 1:15-1:30 PM | Break | |||
| 1:30-2:15 PM | Module 2: Advances and Challenges in Genomics Care | Rachel Mahoney, MS, CGC | ||
| 2:15-2:30 PM | Break | |||
| 2:30-3:30 PM | Module 3: The Patient Journey and Foundation Support | Troy Evans Michele Herndon, DNP, RN | ||
| 3:30-3:45 PM | Break | |||
| 3:45-4:45 PM | Module 4: Sequencing Analysis and Functional Study Approaches | Shilpa Kobren, PhD Michael Wangler, MD | ||
| 4:45-5:00 PM | Closing Remarks |
Faculty
Planners
Speakers
Troy Evans, patient and advocate
Accreditation
In support of improving patient care, Stanford Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Credit Designation
American Medical Association (AMA)
Stanford Medicine designates this Live Activity for a maximum of 5.00 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.