Peking Union Medical College Hospital

Rare diseases are a broad category of diseases with low incidence rates. Despite the name "rare," there are many types of rare diseases and a large number of patients. Currently, more than 10,000 rare diseases have been identified, affecting approximately 10% of the global population. In China, the number of rare disease patients is estimated to be between 49 million and 82 million. The Department of Rare Diseases at Peking Union Medical College Hospital (PUMC) was newly established in 2023 and is the first specialized department in China dedicated to the clinical diagnosis and treatment of rare and complex undiagnosed diseases. Building upon PUMC's century-long leading position in the field of rare diseases, and benchmarking against internationally renowned centers for rare and complex diseases, the department leverages the National Rare Disease Diagnosis and Treatment Collaboration Network, the National Rare Disease Registry System, the National Rare Disease Quality Control Center, the National Key Laboratory for Complex and Severe Rare Diseases, and the National Major Scientific and Technological Infrastructure for Translational Medicine. The Department of Rare Diseases includes a joint outpatient clinic, wards, a genetic counseling and analysis platform, and a teaching platform. Positioned as a platform-based department, it fully utilizes the leading role of its multidisciplinary team with top-tier clinical diagnostic and treatment capabilities in medical care, education, and research. Although the Department of Rare Diseases is newly established, the diagnosis and treatment of rare diseases has long existed in the development of modern medicine in my country. Peking Union Medical College Hospital, as the national center for critical and complex rare diseases since the founding of the People's Republic of China, has, since its establishment in 1921, seen its predecessors tirelessly explore and meticulously research various rare diseases, constantly unveiling their mysteries and pioneering many aspects of rare disease diagnosis and treatment both domestically and internationally. For over a century, it has led the development of rare disease medicine in China. As medical professionals in this new era, it is our responsibility and mission to provide professional and compassionate medical services to patients and their families suffering from rare diseases and undiagnosed, complex conditions. We will dedicate ourselves to exploring the causes, diagnosis, and treatment methods of rare diseases to improve patients' quality of life.

Founded in 1958, the Department of Nuclear Medicine at Peking Union Medical College Hospital (PUMC) is one of the earliest clinical nuclear medicine departments in my country. Over the past 60 years, through the tireless efforts of generations of PUMC nuclear medicine professionals, the department has gradually developed into a nuclear medicine medical, research, and training center with significant influence both domestically and internationally. It has made outstanding contributions to the introduction, development, and training of nuclear medicine in my country. In 1980, Professor Wang Shizhen was elected as the only academician (academician) of the Division of Nuclear Medicine, Biological Sciences, Chinese Academy of Sciences. In 1981, it became the first institution in China authorized to grant doctoral degrees in nuclear medicine. Currently, the department has specialized groups in PET imaging (PET Center), SPECT imaging, radionuclide therapy, in vitro assays, radiopharmaceuticals, and experimental nuclear medicine research. It performs over 30,000 routine high-quality clinical imaging examinations annually, ranking among the top in the country, treats over 500 patients, and conducts over 60,000 in vitro tests, ranking among the top in Beijing. The department is equipped with imaging equipment including 2 PET/MR, 7 PET/CT, 8 SPECT/CT, and 1 SPECT; small animal imaging equipment including 1 Micro SPECT/CT, 1 Micro PET, 1 Micro PET/CT, and 1 Micro PET/MR; radiopharmaceutical generation equipment including 2 cyclotrons, 2 generators (99Mo-99mTc/68Ge-68Ga), and 16 positron emission tomography (PET) drug synthesis hot chambers; and 1 radionuclide therapy ward (10 beds). It offers over 80 routine diagnostic and treatment procedures, making it one of the departments in China with the most comprehensive and numerous routine nuclear medicine diagnostic and treatment programs. Many of these procedures were pioneered in China. As a National Health and Family Planning Commission-affiliated radiopharmaceutical clinical pharmacology base, it is the only unit in China integrating nuclear medicine new drug research, small-batch preparation, and clinical application. It has achieved numerous significant results in the design, synthesis, pharmacology, and clinical application of novel imaging agents for the heart, brain, kidney, inflammation, and tumors.

The Department of Radiology at Peking Union Medical College Hospital (PUMC) was established in 1919, making it one of the earliest radiology departments in Chinese medical schools. With the founding of PUMC in 1921, the radiology department became a crucial component. Currently, as one of the top radiology departments in China, PUMC's radiology department has developed a comprehensive, advanced, and well-structured modern medical imaging system. Since 2014, PUMC's radiology department has consistently ranked first in the Fudan University-published "China Hospital Specialty Reputation Ranking." The department is equipped with state-of-the-art medical equipment, including over ten CT and MRI machines, such as the Siemens dual-source photon counting detector CT, Force CT, Philips IQon Spectral CT, Canon Aquilion One 640-slice CT, United Imaging uCT 530, GE Premier 3.0T MR, and Siemens 3.0T Vida MR. It also has multiple X-ray DR machines, bone densitometers, mammography machines, gastrointestinal contrast machines, and angiography machines. The Radiology Department provides high-quality imaging diagnostic and treatment services based on its comprehensive diagnostic and treatment capabilities and advanced technology. Its technical advantages include standardized 3D reconstruction of multiple systems via whole-body CT, one-stop cardiovascular CT imaging, coronary CT-FFR fractional flow reserve measurement, myocardial CT multi-parameter energy imaging, head CT perfusion, pancreatic CT perfusion, CT reconstruction of the stomach, small intestine, and colon, energy CT examination for acute gastrointestinal bleeding, one-stop CT examination for urinary tract stones, energy CT evaluation of CT implants, and comprehensive clinical application of MRI techniques for the central nervous system, including ASL brain perfusion imaging, magnetic resonance spectroscopy (MRS), whole brain volume analysis, MRI myocardial tissue quantitative analysis and cardiac strain analysis, cardiovascular MRI-4D Flow, multi-site contrast-free MRA imaging, high-definition rapid MRCP, gastric, small intestine, and rectal MRI, multi-site multi-parameter quantitative MRI, multi-site DCE sequences, and whole-body DWI imaging.

The Department of Laboratory Medicine at Peking Union Medical College Hospital was established in 1958 and is the location of the Department of Laboratory Medicine of the Chinese Academy of Medical Sciences and Peking Union Medical College. Currently, the department comprises six specialized groups: Microbiology, Biochemistry and Immunology, Basic Laboratory Medicine and Cytology, Endocrinology, Molecular Biology, and a Comprehensive Group (West Campus). It was among the first in China to establish a laboratory outpatient clinic, seeing an average of over 40 patients daily; and actively participates in clinical ward rounds, totaling over 100 times. Adhering to the quality policy of "accuracy, speed, and enthusiasm," and based on CNAS-CL02:2012 "Accreditation Criteria for Quality and Competence of Medical Laboratories" (ISO15189:2012, IDT) and the technical requirements of CAP, we have established and operate a quality management system. In 2008, we passed the expert review organized by the China National Accreditation Service for Conformity Assessment and obtained the ISO15189 accreditation certificate. In 2014, we passed the laboratory accreditation of the American College of Clinical Pathologists (CAP). In the past ten years, we have undertaken a number of research projects funded by the National Natural Science Foundation of China, the Ministry of Science and Technology, the Ministry of Health's Public Welfare Industry Fund, the World Health Organization, and others. At the same time, we are responsible for teaching master's and doctoral students, 8-year undergraduate students, and adult education students majoring in laboratory medicine at the Chinese Academy of Medical Sciences and Peking Union Medical College, as well as training resident physicians, interns, and visiting scholars in laboratory medicine nationwide.

The Department of Pathology at Peking Union Medical College Hospital (PUMC) was originally the Department of Pathology of Peking Union Medical College. After more than a century of development, it has become a comprehensive and modern department integrating medical treatment, scientific research, and teaching, enjoying a high academic reputation and disciplinary influence both domestically and internationally. The department currently has 87 staff members, including 46 physicians and 41 technicians; 11 hold senior professional titles, 11 hold associate senior professional titles, 24 hold intermediate professional titles, and 51 hold junior professional titles. Under the overall management of the department's core team, physicians are responsible for international medical consultations, special consultations, general consultations, routine external examinations, and frozen section diagnosis; technicians are responsible for routine slide preparation, immunohistochemistry, cytological testing, and molecular testing. In terms of medical work, the Department of Pathology consistently adheres to the quality policy of "precision, impartiality, rigor, and efficiency," and has established a comprehensive quality management system. In 2021, it became a CNAS ISO15189 accredited medical laboratory unit. As a national center for the diagnosis of complex pathological diseases, the department has established remote consultation mechanisms with many hospitals across the country and actively engages in the development and research of artificial intelligence-related technologies. In addition, the department undertakes group-based medical assistance to Tibet, as well as medical aid to Macau, Guizhou, and Zhangzhou, and actively promotes the construction of multiple medical consortium units to further expand the medical resources of Peking Union Medical College Hospital. In terms of scientific research, the Department of Pathology has made continuous breakthroughs, especially in the fields of pancreas, digestive tract, endocrine, respiratory system, gynecological tumors, and nervous system diseases. The department has undertaken and completed dozens of influential research projects, including major national research projects, National Natural Science Foundation of China projects, and projects funded by the Chinese Academy of Medical Sciences and the hospital, and has won numerous science and technology progress awards from the Chinese Academy of Medical Sciences, provincial and ministerial levels, and the national level. The department has led more than 40 multi-center clinical studies, conducted more than 10 medical-research-enterprise collaborative projects, completed an average of more than 80 hospital-level research projects annually, and published more than 50 high-level papers.

The Department of Ultrasound Medicine at Peking Union Medical College Hospital is a national key discipline, a national key specialty, and a postdoctoral research station. It serves as the chair unit of the National Center for Quality Control and Improvement in Ultrasound Medicine, the chair unit-elect of the Ultrasound Medicine Branch of the Chinese Medical Association, the chair unit of the Ultrasound Medicine Branch of the Beijing Medical Association, and the chair unit of the Beijing Municipal Standardized Training Committee for Resident Physicians in Ultrasound. It is a training base for doctoral and master's students, as well as national resident physicians specializing in ultrasound medicine. Currently, the department has one academic leader, one department director, three deputy directors, and three assistant directors. The department has 17 full professors, 11 associate professors, and 18 attending physicians, including 7 doctoral supervisors and 7 master's supervisors. There are over 60 resident physicians, postdoctoral fellows, and graduate students. The Department of Ultrasound Medicine emphasizes teaching and resident physician training. A teaching group has been established, personally overseen by the department head and the teaching director, with a teaching secretary and teaching assistants. Combined with the department's ten subspecialty groups, a standardized and comprehensive training process has been formed, establishing a tiered and progressive ultrasound residency training system. Specialized teaching activities include outpatient supervision, remote consultation for difficult cases, inpatient image reading sessions, analysis of missed and misdiagnosed cases, quality control, and analysis of outstanding cases. The department has edited or translated over 50 textbooks, including leading the compilation of 9 professional textbooks such as *Medical Ultrasound Imaging* (People's Medical Publishing House), compiling 5 guidelines and standards such as *Standardized Prenatal Ultrasound Examination for Fetuses in China*, compiling 17 classic textbooks such as *Basic Tutorial of Obstetrics and Gynecology Ultrasound*, and editing 21 classic monographs such as *Atlas of Ultrasound Differential Diagnosis of Peripheral Vascular Vessels and Superficial Organs*. It has also authored several popular science monographs for the general public. The department actively explores teaching reforms and related research training, securing 14 national, Beijing municipal, and university-level teaching and research projects. It has published nearly 60 teaching-related articles and received numerous university-level educational and teaching achievement awards and teaching competition prizes. As a platform department, it has participated in 31 national-level research fund projects, 10 provincial and ministerial-level research fund projects, and over 20 university-level research fund projects. Among these projects, 15 were national-level major and key projects, including the 863 Program, the National Science and Technology Support Program, the 13th Five-Year Plan Key Research and Development Program, the International Science and Technology Cooperation Program, and the National Natural Science Foundation of China. These projects cover multiple clinical specialties such as breast cancer, thyroid cancer, obstetrics, and vascular medicine, focusing on cutting-edge fields such as mechanism research, molecular imaging, artificial intelligence, 5G remote sensing, and radiomics. In recent years, a digital medical center for clinical research and an incubation center for new medical devices, equipment, and technologies have been established. Multidisciplinary collaboration between industry, academia, and research institutions has been strengthened, with continuous in-depth exploration and accumulation in various new technology research areas such as clinical research and translation of ultrasound contrast agents, R&D and translation of photoacoustic imaging equipment, and artificial intelligence radiomics, enhancing the clinical translation of new technologies. 607 papers have been published in domestic and international core journals, with over 313 papers indexed by SCI. Research achievements have received 12 provincial and ministerial-level scientific research awards and 7 hospital-level medical achievement awards.

The Otology Group comprehensively conducts work in ear microsurgery, otoneurosurgery (vestibular and facial nerve aspects), lateral skull base surgery, otoplastic surgery, and clinical audiology. They have performed numerous stapes surgeries, facial nerve surgeries, cochlear implants and various other hearing aids, lateral skull base surgeries, temporal bone malignant tumor resections, and surgeries for various external and middle ear malformations, achieving excellent therapeutic results. In basic research, they have conducted in-depth studies on facial nerve function testing and objective functional evaluation, inner ear development, deafness genes, the application of stem cells in the treatment of sensorineural hearing loss, and vertigo. The Rhinology Group is a leader in basic and clinical research on olfaction in China. They actively conduct endoscopic minimally invasive surgery and navigation-guided surgeries for complex diseases, accumulating rich experience in the treatment of special nasal-sinus diseases and nasocranial tumors. They have obtained multiple patents for the development of nasal surgical instruments. The Laryngology-Head and Neck Surgery Group systematically conducts comprehensive treatment of head and neck malignancies, obstructive sleep apnea-hypopnea syndrome (OSAHS), and pharyngeal, tracheoesophageal, and esophageal strictures. Research areas include preoperative assessment of OSAHS, voice function assessment, and molecular biological mechanisms of head and neck tumors. The institute has also taken the lead in conducting a series of basic and clinical studies on human papillomavirus-related head and neck tumors in China.

Founded in 1921, the Department of Ophthalmology at Peking Union Medical College Hospital (PUMC) is one of the earliest departments established during the hospital's founding. Many of the world's leading ophthalmologists at the time worked there, earning it the reputation of "the Vienna Eye Center of the East," representing the highest academic standards of its era. Through a century of development and the tireless efforts of generations of PUMC ophthalmologists, the department is now among the first batch of national key clinical specialty construction units, one of the first institutions in China authorized to grant doctoral and master's degrees, a national standardized residency training base, a Beijing key laboratory for intelligent diagnosis of fundus diseases and drug and device research and development, and a key laboratory for fundus diseases of the Chinese Academy of Medical Sciences. PUMC's ophthalmology department boasts a comprehensive range of professional groups, including nine major specialties: fundus, neuro-ophthalmology, glaucoma, cataract, corneal diseases and refractive errors, uveitis, strabismus and amblyopia and optometry, ocular genetics and electrophysiology, oculoplastic surgery, and lacrimal duct. Equipped with advanced technology and emphasizing international exchange, it is one of the leading centers for the diagnosis and treatment of complex ophthalmic diseases in China.