Evaluation of Undiagnosed and Rare Conditions

This training program is designed to enhance the knowledge and skills of clinicians and researchers in the evaluation and management of patients with undiagnosed conditions. Participants will learn to apply core diagnostic methods used by the Undiagnosed Diseases Network (UDN) at their own institutions, with the goal of improving local care for individuals with rare diseases. This course aims to empower healthcare professionals to address diagnostic challenges. Led by investigators from UDN clinical sites and cores, the training will cover key aspects of undiagnosed disease evaluation, including clinical phenotyping, sequencing data interpretation, functional studies, challenges in genomic medicine, implicit bias, and the role of patient and foundation engagement. The course will be delivered online through a combination of instructional slides, videos, and other interactive materials. It is designed to share current methodologies, practical insights, and upcoming advances in the diagnosis and care of patients with rare and undiagnosed conditions.

This training will have 4 main topics:

Clinical Evaluation Vandana Shashi, MD will provide an overview of genomic sequencing and describe clinical evaluations of patients with undiagnosed conditions. Camilo Toro, MD will share best practices in the clinical evaluation process including multiple case illustrations.

Genomic Care Rachel Mahoney, MS, CGC will explain genomics in the context of rare disease and practical, ethical, and counseling considerations. She will discuss genome sequencing, RNA sequencing, advanced methods in genomic analysis, and clinical evaluations with specialists.

Patient Journey and Foundation Support Troy Evans, a patient and advocate, and Michele Herndon, DNP, RN will share personal stories describing medical and personal experiences of being undiagnosed. UDNF, a nonprofit organization, will give an overview of how Patient Navigators support undiagnosed patients.

Genomic Sequencing and Functional Studies Shilpa Kobren, PhD and Michael Wangler, MD will discuss data analysis including technical solutions for joint variant calling and aggregate genomic analyses in the UDN cohort. Functional studies include model organisms research such as drosophila modeling of variants found in UDN variants.

This activity will occur at 8:00 am-2:00 pm Pacific Time / 11:00 am-5:00 pm Eastern Time.

1. Determine appropriate methods for clinical evaluation and phenotyping of patients with undiagnosed conditions.
2. Recognize when patients require advanced analysis of sequencing data.
3. Identify strategies for incorporating basic research into the diagnostic process and introducing appropriate research for patients.
4. Recognize how patient engagement can be leveraged to improve rare disease diagnosis.

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 Credits^TM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Accessibility Statement
 Stanford University School of Medicine is committed to ensuring that its programs, services, goods and facilities are accessible to individuals with disabilities as specified under Section 504 of the Rehabilitation Act of 1973 and the Americans with Disabilities Amendments Act of 2008.  If you have needs that require visual, auditory, cognitive, or mobility accommodations, please contact the CME office.

Cultural and Linguistic Competency
The planners and speakers of this CME activity have been encouraged to address cultural issues relevant to their topic area for the purpose of complying with California Assembly Bill 1195. Moreover, the Stanford University School of Medicine Multicultural Health Portal contains many useful cultural and linguistic competency tools including culture guides, language access information and pertinent state and federal laws.  You are encouraged to visit the Multicultural Health Portal: https://laneguides.stanford.edu/multicultural-health

For activity related questions, please contact
     Name: Holly Meyer
     Title: Compliance Coordinator
     Email: [email protected]

For CME general questions, please contact 
     Email: [email protected]

Mitigation of Relevant Financial Relationships

Stanford Medicine adheres to the Standards for Integrity and Independence in Accredited Continuing Education.

There are no relevant financial relationships with ACCME-defined ineligible companies for anyone who was in control of the content of this activity, except those listed in the table below. 

All of the relevant financial relationships listed for these individuals have been mitigated.

Thursday, June 12, 2025