Taiwan Catalysts - Launching Newborn Screening
Taiwan’s journey in launching nationwide newborn screening is the result of collaboration among committed catalysts — physicians, NGO and NPO leaders, and policy advocates. Together, they’ve helped shape a healthcare approach grounded in early detection and MPS awareness. Their experiences offer powerful insights into how cross-sector teamwork can turn a vision into real-world impact.
Yin-Hsiu (Nancy) Chien, MD, PhD
Dr.Yin-Hsiu Chien is a Clinical Professor at the Department of Pediatrics at the National Taiwan University, Taiwan, and an Attending Physician of the Department of Medical Genetics and Pediatrics at the National Taiwan University Hospital. She undertook pediatric residency training, and completed her fellowship in Pediatric Allergy, Immunology & Rheumatology before then completing her fellowship in Medical Genetics and Metabolism, all at the National Taiwan University Hospital. She participates in research on Pompe disease, focusing especially on the early diagnosis and the improvement in the treatment. She is the director of the Newborn Screening Center at the National Taiwan University Hospital, which routinely screens around one third of new-born infants in Taiwan.
Virginia Tsai
Virginia Tsai is the Founder of the Taiwan MPS Society and a devoted mother to a son with MPS II. After her son’s diagnosis, she transformed from a full-time homemaker into a passionate advocate for MPS patients. A graduate of National Taipei University with a degree in Sociology, she is also the Founder and Chair of the Asia Pacific MPS Organization and a Director of the Light Up Your Life Foundation. She focuses on patient care, medical rights advocacy, and helping develop patient groups across Asia. Over the past three decades, she has built a strong support network, promoted public awareness, and influenced healthcare policies in Taiwan. Virginia’s unwavering love for her son and her courage in facing adversity continue to inspire and bring hope to MPS families across Asia.
Hsiao-Jan Chen, Senior Researcher
Hsiao-Jan Chen received her Ph.D. in Clinical Laboratory Sciences and Medical Biotechnology from National Taiwan University and is currently a Senior Researcher at the Newborn Screening Center, The Chinese Foundation of Health. Certified as a medical technologist, her research focuses on newborn screening and rare genetic disorders, including mucopolysaccharidoses and adrenoleukodystrophy (ALD). She has led national screening programs, contributed to diagnostic standardization, and supported system upgrades and TAF accreditation. Dr. Chen has published extensively in peer-reviewed journals and international conferences, playing an active role in advancing genetic diagnostics and public health screening in Taiwan.
Li-Ping Tsai, MD
Li-Ping Tsai, MD, is Associate Professor in Department of Molecular Biology and Human Genetics, Tzu Chi University. He was the former Director of Medical Genetic Center in Taipei Tzu Chi Hospital and the former Chief in Prader Willi Syndrome Association Taiwan. As a clinical geneticist for three decades, now he works as a senile Attending Physician in Department of Pediatrics in Taipei City Hospital and Taipei Tzu Chi Hospital. He is also the Executive Director in Taiwan Human Genetic Society and a team member in Orphan Drugs Team of Review Committee for Rare Diseases and Orphan Drugs in Taiwan Food and Drug Administration. Occasionally, he is invited as a advisory specialist in Drug Advisory Board Meeting in National Health Insurance Administration.
Global Voices - Rethinking Screening in a Connected World
Spanning clinical care, research, and data innovation, dive into global perspectives on the evolving landscape of newborn screening from the US, UK, and Canada. With backgrounds in pediatrics, rare disease policy, and ethical data sharing, explore how newborn screening can evolve to become more evidence-based, inclusive, and tech-enabled — especially for rare genetic conditions.
Paul R. Harmatz, MD
Paul R.Harmatz, MD, is Professor in Residence, Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital Oakland. He is the Medical Director of the PediatricClinical Research Program in Mucopolysaccharidoses (MPS) and Related Disorders. Dr. Harmatz completed his Pediatric internship and residency training at Harbor-UCLA Medical Center. Following a clinical and research fellowship in Pediatric Gastroenterology and Nutrition at Massachusetts General Hospital, he remained in Boston until 1992 as faculty in Pediatrics at Harvard Medical School. During the last 20 years, Dr. Harmatz has participated in clinical trials with MPS I, MPS II, IIIa, IIIb, IVa, VI, VII, and has managed clinical care for patients with MPS living in northern California.
Amy Gaviglio
Amy Gaviglio is a genetic counselor and founder of Connetics Consulting, LLC which provides newborn screening, genomics, and rare disease implementation, policy, and advocacy services globally. She has worked in the NBS and rare disease space for the past 17 years. Amy currently works with the Centers for Disease Control and Prevention, the Association of Public Health Laboratories (APHL), Expecting Health, RTI International, and several other rare disease and genomics organizations. She is co-chair of APHL’s New Disorders in Newborn Screening Subcommittee and is NSGC’s Organizational Reprsentative for the Federal Advisory Committee on Disorders in Newborns and Children. She also serves on the Executive Board for the International Society of Neonatal Screening, on the Board of Directors for the EveryLife Foundation, and is a member of the MPS Society’s Scientific Advisory Board. Finally, Amy serves as Chair of the NBS Expert Panel for the Clinical and Laboratory Standards Institute.
Irene Chang, MD, MSc
Irene Chang, MD, MSc, is an Associate Professor of Clinical Pediatrics and attending physician in the Division of Medical Genetics at the University of California, San Francisco (UCSF) Benioff Children's Hospitals. She completed her medical training at the University of Miami Miller School of Medicine, followed by a residency in Clinical Genetics and a fellowship in Medical Biochemical Genetics at the University of Washington and Seattle Children's Hospital. She stayed on as faculty in the Division of Genetic Medicine, Section of Biochemical Genetics at Seattle Children's Hospital for three years, then joined the Division of Medical Genetics at UCSF in 2023. Dr. Chang currently participates in clinical trials for MPS, lysosomal storage disorders, and other inborn errors of metabolism. She is dedicated to improving outcomes for patients with rare genetic disorders through early diagnosis and treatment and by investigating new therapies for these conditions. She is a co-director of the Newborn Screening Program at UCSF and provides clinical care for individuals with inborn errors of metabolism.
Clinical Action - MPS Experts at Work
Leading MPS physicians will share their clinical expertise through hands-on care and dialogue. Drawing from specialties including genetics, neurology, vision, and bone health, they offer deep insight into the complex needs of families navigating MPS. Their presence emphasizes the importance of access, understanding, and personalized care.
Fuu-Jen Tsai, MD, PhD
Dr. Fuu-Jen Tsai is a leading pediatrician specializing in rare genetic diseases. He is a Distinguished Professor and Vice President of China Medical University, Director of Medical Research and Genetic Medicine at its affiliated hospital, and serves as President of the Taiwan Human Genetics Society and Chairman of the Taiwan Foundation for Rare Disorders. His numerous accolades include the National Biotechnology and Medical Care Quality Gold Medal (2002), the Outstanding Contribution to Orphan Drug Development Award from the Ministry of Health and Welfare (2004), the Medical Role Model Award (2019), the Medical Dedication Award (2020), and the MamiGuide Golden Award (2025). Recognized as one of the world’s top 2% scientists by Stanford University, he was ranked first in pediatric genetics in Taiwan by Research.com in 2024.
Pao-Chin Chiu, MD
Pao Chin Chiu, MD, is a senior physician in Pediatric Division of Kaohsiung Medical University Gang Shan Hospital. Her sub specialty is in medical genetics and inborn errors of metabolism including mucopolysaccharidosis (MPS).
Yuan-Chieh Lee, MD, PhD
Dr. Yuan-Chieh Lee Graduated from the National Taiwan University School of Medicine and received his residency training at the Department of Ophthalmology, National Taiwan University Hospital. He got his PhD degree from Tzu Chi University, Hualien, Taiwan. He is now a professor at the Department of Medicine at Tzu Chi University, Chief of the Department of Ophthalmology at Buddhist Tzu Chi General Hospital, Hualien, and also Chief of the Department of Ophthalmology and Visual Science at Tzu Chi University. Dr. Lee has been caring for MPS patients' eye problems since 2007. He is good at corneal, glaucoma, and retinal surgery, and had done some corneal transplants, including penetrating keratoplasty to deep anterior lamellar keratoplasty (DALK), or combined filtering surgery for glaucoma in MPS patients. He is a pioneer in the field of MIGS XEN surgery for glaucoma. He used some new modalities, including optical coherence tomography and Corvis ST, to investigate and provide new insight into the retinal pathology, and angle structure with corrected IOP of MPS patients. He also enjoyed attending the MPS patients a lot, sharing their joy and feelings, and admiring their courage.
Tung-Ming Chang, MD, PhD
Dr. Tung-Ming Chang graduated from Taipei Medical University in 1999, and received his resident training of pediatric neurology at Veterans General Hospital, Taichung. He participated in the PhD program for artificial intelligence in department of Biological Science and Technology, National Yang Ming Chiao Tung University, and completed this training in 2023. Dr. Chang’s research interests focus on neurodevelopmental disorders (Tourette syndrome, ADHD), lysosomal storage disorders such as mucopolysaccharidosis (MPS) and pediatric neurotransmitter disorder such as Aromatic L-amino acid decarboxylase (AADC) deficiency.
Hsin-Hung (Robert) Chen, MD, PhD
Dr. Chen serves as an Attending Physician at the Pediatric Neurosurgery Division of Taipei Veterans General Hospital and holds both an MD and PhD from National Yang Ming Chiao Tung University. His extensive clinical training includes fellowships across premier institutions in the United States, France, and Italy. Internationally recognized for his work in hydrocephalus, pediatric epilepsy, brain tumors, and spinal dysraphism, Dr. Chen is also a prolific researcher in public health about child welfare and dedicated educator. His contributions have been pivotal in advancing pediatric neurosurgery in Asia and beyond.
