On October 25-26, 2024, PUMCH held its first Training Program on Rare Diseases and Clinical Genetics. Hosted by the Medical Center for Rare Diseases and Department of Rare Diseases of PUMCH, and co-organized by the Society of Rare Diseases, Chinese Medical Association, the program drew clinicians and genetic researchers from across the country. Multiple PUMCH experts in the field of rare diseases delivered training sessions.

There are currently over 7,000 diseases are classified as rare. More than 80% of rare diseases are caused by genetic variants. Due to the low incidence of individual disease, diverse clinical manifestations, and complex diagnostic strategies, it is very challenging for clinicians to develop comprehensive expertise in this field, creating significant obstacles for providing healthcare for patients with rare diseases.

To leverage its leadership in rare disease care and research while helping medical institutions nationwide enhance their diagnostic and therapeutic capabilities, PUMCH developed this training course. The Medical Center for Rare Diseases and Department of Rare Diseases painstakingly designed a curriculum centered on “clinical practices related to rare diseases and genetics”, aiming to equip trainees with a comprehensive mastery of basic theories and practical skills in the field.

▲Training in session

Leading experts in rare diseases and clinical genetics conducted sessions covering fundamental concepts, genetic mechanisms, diagnostic approaches, and key aspects of genetic counseling. They shared insights from their extensive experience, explained diagnostic criteria in a thorough but accessible manner, and presented the latest international research advancement, broadening and deepening participants' understanding of the field and keeping them abreast of the latest developments worldwide.

▲Experts delivering lectures

The program included more hands-on sessions on genetic test ordering, interpretation of genetic reports, and genetic counseling using real clinical cases. The trainees were engaged actively and dug into the cases, and experts answered their questions in detail. These animated interactions were very productive for the trainees.

▲Diverse activities

This training program served as both a learning platform and a venue for facilitating academic exchanges and collaboration in rare diseases and clinical genetics. Through various learning formats including expert lectures, case discussions, interactive dialogues, clinical case-based teaching, flipped classrooms, and hands-on workshops, participants acquired essential knowledge and practical skills in genetic testing, report interpretation, and counseling. This will build a strong foundation on which they can further improve their diagnostic and therapeutic capabilities in this field.

The Medical Center for Rare Diseases and Department of Rare Diseases, PUMCH will remain committed to advancing rare disease care and research. We strive to improve healthcare for rare disease nationwide, working towards a more hopeful and brighter future for them.

Written by Shi Jinglin

Reviewed by Shen Min and Xie Jing

Pictures courtesy of the rare disease discipline

Edited by Li Wanjing and Chen Xiao