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★National Leading Unit · National Center for Rare Diseases

Center for Rare Diseases & Complex Multidisciplinary Care (MDT)

National Leading Hospital of the National Rare Disease Diagnosis and Treatment Collaboration Network (covering 324 hospitals nationwide), National Rare Disease Specialized Ward

Department Introduction and Development History

National Leading Hospital of the National Rare Disease Diagnosis and Treatment Collaboration Network, host of the National Rare Disease Registration Platform (over 40,000 cases registered in-depth). Chief editor of China's first 'Guidelines for the Diagnosis and Treatment of Rare Diseases'. In February 2024, the first independent specialized ward for rare diseases will be officially launched, with 34 MDT specialty groups for complex diseases, serving as a core national base to address the challenges of 'difficult access to care, difficult diagnosis, and difficult medication'.

With the spirit of 'Centennial Grand Ward Rounds', relying on 34 MDT expert groups, the rare disease specialized ward, and national key laboratories, we achieve a complete loop of 'clinical discovery—gene decoding—basic analysis—targeted therapy'.

Century-Old Heritage · Premier Specialties

Academic Standing & Clinical Excellence

National Leading Hospital of the National Rare Disease Diagnosis and Treatment Collaboration Network, host of the National Rare Disease Registration Platform (over 40,000 cases registered in-depth). Chief editor of China's first 'Guidelines for the Diagnosis and Treatment of Rare Diseases'. In February 2024, the first independent specialized ward for rare diseases will be officially launched, with 34 MDT specialty groups for complex diseases, serving as a core national base to address the challenges of 'difficult access to care, difficult diagnosis, and difficult medication'.

National Centers & Research Platforms

  • 🏛National Leading Hospital of the National Rare Disease Diagnosis and Treatment Collaboration Network (324 hospitals)
  • 🏛National Rare Disease Registration System (NRDRS)
  • 🏛National Key Laboratory for Complex Critical and Rare Diseases
  • 🏛Peking Union Medical College Hospital Rare Disease Independent Specialized Ward
  • 🏛34 MDT Multidisciplinary Consultation Centers for Complex Diseases

Core Indications & Conditions Treated

01Complex undiagnosed diseases with unclear diagnosis (patients who have been to multiple hospitals without a diagnosis for a long time)
02Single-gene rare diseases and hereditary metabolic disorders affecting multiple systems
03POEMS syndrome, Castleman disease, and autoinflammatory diseases
04Lymphangioleiomyomatosis (LAM), idiopathic pulmonary fibrosis, and other rare respiratory diseases
05Fabry disease, Pompe disease, mucopolysaccharidosis, and other lysosomal storage disorders
06Transthyretin amyloidosis (ATTR) cardiomyopathy/multiple neuropathy
07Osteogenesis imperfecta (brittle bone disease), achondroplasia, and other rare bone metabolic disorders
08Hereditary angioedema (HAE), neuromyelitis optica, and other immune-related rare diseases

Clinical Strengths & Advanced Capabilities

With the spirit of 'Centennial Grand Ward Rounds', relying on 34 MDT expert groups, the rare disease specialized ward, and national key laboratories, we achieve a complete loop of 'clinical discovery—gene decoding—basic analysis—targeted therapy'.

1

Multidisciplinary one-stop care in the independent specialized ward for rare diseases: daily joint ward rounds and interdisciplinary consultations by renowned experts from multiple specialties

2

Rapid molecular genetic etiology screening channels using whole exome sequencing (WES) and whole genome sequencing (WGS)

3

National rare disease registration system and multicenter clinical follow-up network, driving clinical trials for new drugs for rare diseases and synchronized international market entry

4

'Orphan drug' precise medication rapid green approval and long-term multidisciplinary comprehensive functional rehabilitation assessment

5

34 outpatient MDT specialty groups for complex diseases (covering pituitary, pancreas, musculoskeletal, cardiovascular, thoracic tumors, etc.), serving tens of thousands of patients

Lead Physicians & Specialists

7 Expert
TX

Tian Xinping

Chief Physician, Professor, Doctoral Supervisor

🏅 Standing Committee Member, Chinese Rheumatology Association · Lead Specialist in Systemic Vasculitis

Core Indications & Conditions Treated

Systemic Vasculitis (Giant Cell Arteritis, ANCA-Associated Vasculitis)Lupus CrisisRefractory Connective Tissue DiseasePregnancy Complicated by Rheumatic Diseases

National authority in systemic vasculitis and Takayasu arteritis. Specializes in advanced biologic therapy for vasculitis, lupus crises, and pregnancy management in rheumatic disease patients.

ZL

Zhu Lan

Chief Physician, Professor, Doctoral Supervisor

🏅 Chair of Obstetrics & Gynecology, PUMCH · President-Elect, Chinese Society of Ob/Gyn · Former Board Member, IUGA

Core Indications & Conditions Treated

Pelvic Organ ProlapseFemale Stress Urinary IncontinenceCongenital Genital Tract Malformations (Rudimentary Syndrome Reconstruction)Minimally Invasive Surgery in General Gynecology

Discipline leader in female pelvic medicine and reconstructive surgery in China. Renowned internationally for novel pelvic organ prolapse reconstruction and surgical management of congenital genital malformations.

GH

Guan Hongzhi

Chief Physician, Professor, Doctoral Supervisor

🏅 Vice Director of Neurology, PUMCH · Leader in Neuro-Infections & CSF Cytology

Core Indications & Conditions Treated

Autoimmune EncephalitisCentral nervous system infections (meningitis, encephalitis)Cytology of Cerebrospinal Fluid and Liquid BiopsyNeurological Demyelinating Diseases

National pioneer in cerebrospinal fluid (CSF) cytology and neuro-infectious immunology, providing authoritative 'liquid biopsy' diagnostics for encephalitis and meningitis.

DY

Dai Yi

Chief Physician, Professor, Doctoral Supervisor

Core Indications & Conditions Treated

Neurogenetic Disorders and Rare Diseases (Fabry Disease, Pompe Disease, SMA)Duchenne Muscular Dystrophy (DMD)Hereditary AtaxiaNeurometabolic Disorders

Leading expert in neurogenetics and rare neuromuscular diseases, specializing in Fabry disease, Pompe disease, spinal muscular atrophy, and muscular dystrophies.

ZS

Zhang Shuyang

Chief Physician, Professor, Doctoral Supervisor, Changjiang Scholar

🏅 President, PUMCH · Changjiang Scholar Distinguished Professor · Principal Investigator, National Rare Diseases Registry System

Core Indications & Conditions Treated

Cardiomyopathy (Hypertrophic, Dilated, Restrictive)Rare Cardiovascular Diseases (Fabry Disease, Transthyretin Amyloid Cardiomyopathy ATTR)Refractory Heart FailureInterventional Treatment of Coronary Heart Disease

President of PUMCH and leading investigator of the National Rare Diseases Registry System. World authority on cardiomyopathy, cardiac amyloidosis (ATTR), Fabry disease, and heart failure management.

LJ

Li Jian

Chief Physician, Professor, Doctoral Supervisor

🏅 Director of Hematology, PUMCH · Head of Plasma Cell Disorders Working Group

Core Indications & Conditions Treated

POEMS syndromeSystemic Light Chain Amyloidosis (AL)Multiple MyelomaCastleman disease

Director of Hematology at PUMCH and internationally renowned authority on POEMS syndrome and systemic AL amyloidosis, authoring definitive global clinical criteria.

CL

Chen Limeng

Chief Physician, Professor, Doctoral Supervisor

🏅 Vice Director of Nephrology, PUMCH · Lead Investigator, National Rare Kidney Disease Network

Core Indications & Conditions Treated

Gitelman syndrome and Bartter syndromeHereditary Renal Tubular AcidosisPolycystic Kidney DiseaseDifficult Rare Kidney Diseases

National leader in rare tubular and tubulointerstitial kidney disorders, establishing China's Gitelman and Bartter syndrome clinical and genetic registry.

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Century-Old Heritage · Premier Specialties

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