She has presided over 16 national and provincial-ministerial scientific research projects, including key R&D programs during the 13th Five-Year Plan and 14th Five-Year Plan periods of the Ministry of Science and Technology. As the first or corresponding author, she has published more than 300 SCI papers in The New England Journal of Medicine (NEJM), Science, The Lancet, Nature, etc., with 7,550 citations. She has edited more than 20 works, such as the planning textbook Rare Diseases, Guidelines for the Diagnosis and Treatment of Rare Diseases (2019 Edition), and Interpretation of the First Batch of Rare Disease Catalog in China, and founded the core journal Rare Disease Research.

President and Deputy Secretary of the Party Committee of Peking Union Medical College Hospital, and Deputy President of Peking Union Medical College, Chinese Academy of Medical Sciences.

An expert enjoying the special allowance from the State Council. She serves as a deputy to the 14th National People's Congress, Chairperson of the Rare Diseases Branch of the Chinese Medical Association, Chairperson of the Committee on Rare Disease Diagnosis, Treatment and Support of the National Health Commission, and President of the Cardiovascular Physicians Branch of the Chinese Medical Doctor Association. She has been awarded the title of Changjiang Scholar Chair Professor, an Outstanding Young and Middle-aged Expert by the National Health Commission, the National May 1st Labor Medal, and the National March 8th Red-Banner Pacesetter.