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Homepage Medical Expertise
Rare Diseases
Rare Diseases
The Rare Disease Center at MacKay Memorial Hospital is dedicated to providing comprehensive diagnosis, treatment, and care for patients with rare diseases, establishing itself as a leading institution in holistic care for rare diseases both domestically and internationally. Equipped with advanced laboratory facilities and a multidisciplinary team of medical specialists, the center serves patients from across the country, offering tailored and professional medical services to meet their needs.
Our team has made significant contributions in the diagnosis, treatment, care, and research of rare diseases. Leveraging our leadership in Taiwan, Asia, and globally, we have been awarded the SNQ (Symbol of National Quality) certification and the National Biotechnology and Medical Quality Silver Award, demonstrating our expertise and excellence in the field of rare diseases.
Rare Diseases罕見疾病中心醫療服務
Medical Services

We offer a wide range of services, including:

  • Genetic Counseling：
    Assisting patients and their families in understanding the genetic background of their disease and exploring possible treatment options.
  • Multidisciplinary Integrated Care：
    Establishing a well-structured, interdisciplinary care model to ensure patients receive timely and accurate diagnosis and treatment.
  • Clinical Trials：
    Participating in multiple international collaborative research projects to provide patients with access to the latest treatment opportunities.
Mission and Vision

Our center is committed to delivering holistic medical care for patients with rare diseases while continuously improving service quality, reflecting the core values of MacKay Memorial Hospital.

  • Short-term goal: Establishing a comprehensive diagnostic and care system for rare diseases.
  • Mid-term goal: Enhancing research and development capabilities for specific rare diseases.
  • Long-term goal: Providing personalized medical services and advancing Taiwan's expertise in genetic medicine.

With professionalism, innovation, and compassion at its core, the Rare Disease Center at MacKay Memorial Hospital remains dedicated to bringing hope to patients, safeguarding their health, and serving as their strongest support.

team醫師團隊
Physician Team
Dr. Lin Hsuan-Pei林炫沛
Senior Attending Physician, Department of Pediatrics
Dr. Lin Hsuan-Pei
  • General Pediatric Internal Medicine
  • Congenital Genetic and Metabolic Disorders
  • Rare Diseases
【Current Positions】
  • Senior Attending Physician, Department of Pediatrics, MacKay Memorial Hospital
  • Chairman, Subcommittee of Medical Genetics/Metabolism, Taiwan Pediatric Association
  • Professor, Department of Medicine, MacKay Medical College
  • Professor, Department of Early Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management
  • Adjunct Professor, Department of Early Childhood Care and Education, National Taipei University of Nursing and Health Sciences

【Specialty】
  • General Pediatric Internal Medicine
  • Congenital Genetic and Metabolic Disorders
  • Genetic Counseling
  • Rare Diseases

【Educational】
  • Bachelor of Medicine, Department of Medicine, Kaohsiung Medical University

【Experience】
  • Professor, Department of Medicine, MacKay Medical College
  • Director, Department of Pediatric Genetics, MacKay Memorial Hospital
  • Professor, Department of Early Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management
  • Adjunct Professor, Department of Early Childhood Care and Education, National Taipei University of Nursing and Health Sciences
  • Chief, Biochemical Genetics Section, Medical Research Department
  • Director, Rare Disease Center, MacKay Memorial Hospital
  • Committee Member, Rare Disease and Drug Review Committee, Department of Health, Executive Yuan
  • Committee Member, Maternal and Child Health Promotion Committee, Taipei City Government
  • Executive Director, Taiwan Society of Human Genetics
  • Committee Member, Education Committee, Taipei Medical Association
  • Consultant, Child Welfare League Foundation
  • Director and Medical Consultant, Taipei and Republic of China Wish Association
  • Medical Consultant, Albinism Care Association, Osteogenesis Imperfecta Association, Achondroplasia Association, and Tuberous Sclerosis Association
  • Honorary Chairman, Taiwan Mucopolysaccharidosis Association
  • Executive Director, Rare Disease Foundation
  • Director, Down Syndrome Foundation of Republic of China
  • Asian Regional Coordinator, International Mucopolysaccharidosis Type IV Natural History Registry (MOR-001)
  • Asian Regional Coordinator, International Mucopolysaccharidosis Type IV Clinical Trial (MOR)
  • Taiwan Coordinator, International Mucopolysaccharidosis Type II Natural History Registry (HOS)
  • Core Committee Member, Asia-Pacific Mucopolysaccharidosis Network (APMN); Member, American Society of Human Genetics
  • Director, Asian Society for Inborn Errors of Metabolism (ASIMD); Asian Regional Advisor, International Prader-Willi Syndrome Organization (IPWSO)

【Other Positions】
  • Recipient of "Outstanding Paper Award" from the Pediatric Association of Republic of China
  • Recipient of "Friend of Mucopolysaccharidosis Children Award" from the Mucopolysaccharidosis Association of Republic of China
  • Recipient of "Medical Contribution Award" from the Osteogenesis Imperfecta Association of Republic of China
  • First Place Winner of "Outstanding Hospital Award for Rare Disease Reporting" from the Department of Health
  • Recipient of "Apricot Grove Award" from the Taipei Medical Association
  • Recipient of "Medical Angel Award" from the Osteogenesis Imperfecta Association of Republic of China
  • Appointed as "Consultant Physician" by the Wish Association of Republic of China
  • Recipient of "Mead Johnson Travel Award" from the Taiwan Pediatric Association
  • Recipient of the First "Chou Ai Memorial Award" - Special Contribution Award from the Taiwan Mucopolysaccharidosis Association of Republic of China
  • The "Chou Ai Memorial Award" is the highest honor for mucopolysaccharidosis medical care, treatment, and research in Taiwan
  • The MacKay Memorial Hospital Pediatric Team received the "Pediatric Team Contribution Award" from the Credit Suisse Children's Medical Foundation, with Dr. Lin Hsuan-Pei as a key team member
  • The MacKay Memorial Hospital Early Intervention Team received the "7th Early Intervention Palm Award" from the Republic of China Association for Early Intervention of Children with Developmental Delays, with Dr. Lin Hsuan-Pei as a key team member
  • Recipient of "Special Contribution Award" from the International Prader-Willi Syndrome Organization (IPWSO)
  • The Rare Disease Medical Care Team received the National Biotechnology Quality (SNQ) Mark in the Medical Institution Category/Hospital Specialty Medical Care Group - Pioneering World-Class Comprehensive Care for Mucopolysaccharidosis Patients, providing a professional, caring, and safe care model
Dr. Lin Hsiang-Yu林翔宇
Director, International Center for Rare Diseases
Dr. Lin Hsiang-Yu
  • Congenital Genetic and Metabolic Diseases
  • General Pediatric Internal Medicine
  • Rare Diseases
【Current Positions】
  • Director, International Center for Rare Diseases, MacKay Memorial Hospital
  • Chief, Department of Pediatric Genetics, MacKay Children's Hospital
  • Director, Medical Research Laboratory, MacKay Children's Hospital
  • Professor, Department of Medicine, MacKay Medical College
  • Professor, MacKay Medicine, Nursing and Management College
  • Secretary-General, Human Genetics Society of Republic of China
  • Secretary, Medical Genetics/Metabolism Committee, Taiwan Pediatric Association
  • Expert Review Committee Member, Rare Disease and Drug Review Committee, Bureau of Health Promotion, Department of Health, Executive Yuan

【Specialty】
  • General Pediatric Internal Medicine
  • Congenital Genetic and Metabolic Diseases
  • Genetic Counseling
  • Rare Diseases
  • Pediatric Emergency Medicine
  • Medical Research Paper Writing
  • Epigenetics

【Education】
  • Ph.D., Institute of Clinical Medicine, National Yang Ming University
  • M.D., School of Medicine, Taipei Medical University

【Experience】
  • Advanced Study in Basic Medicine, Medical Center, Ohio State University, USA
  • Editorial Board Member, "Frontline Pediatrics" Journal, Taiwan Pediatric Association

【Professional Certifications】
  • Ministry of Education Certified Professor (Certificate No. 145433)
  • Board Certified Pediatrician, Republic of China (Certificate No. 003064)
  • Board Certified Subspecialist in Pediatric Medical Genetics and Metabolism, Republic of China (Certificate No. 045)
  • Board Certified Subspecialist in Pediatric Emergency Medicine, Republic of China (Certificate No. 00546)
  • Public Service Physician Higher Examination Qualified, Republic of China (Certificate No. 1169, 1998)
  • Certified Pediatric Ultrasound Specialist, Medical Ultrasound Society of Republic of China (Certificate No. eP-000202)
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