Brian K KASPAR, Ph. D, Chief Scientific Officer, AVEXIS Inc., USA 

The main focus of the Kaspar laboratory is centered on the mechanism(s) of neurodegeneration in Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). The laboratory works on muscle enhancing strategies in order to combat musculoskeletal disorders as well. They are currently in a Phase I/II human clinical trial for Becker Muscular Dystrophy and Inclusion Body Myositis using their expertise in Adeno Associated Virus. Furthermore, they have advanced human trials for gene delivery in Spinal Muscular Atrophy.

Brian R. ROBINSON, MD, Vice President, Medical Affairs, Bluebirdbio, USA 
 
Dr. Robinson has over 14 years of experience in biotechnology Medical affairs. Most recently, he was the Global Medical Lead for the hemophilia program at Biogen and has previously held similar Medical Affairs roles at global enterprises such as GE Healthcare, Pfizer and Abbott Laboratories. At the moment he is working for Bluebird Bio and his team works with numerous stakeholders, including physicians, scientists, advocates, patients and caregivers.

Chen LI, MD, Peking Union Medical College 
 
Li Chen is a doctor of medicine, attending physician. In 2007, he was assigned to Peking Union Medical College Hospital. In 2013, as a visiting scholar, he studied at Harvard medical school in the United States. Currently he is working on clinical research with rare disease of SAPHO syndrome. He as the first author has published 35 academic articles in Chinese and 4 in English. He has completed one clinical registration research item, and presides one fund.

Cheng-hua LEE, Ph.D., Deputy Director General, National HealthInsurance Administration Ministry of Health and Welfare, Taiwan, China

Dr. Cheng-Hua Lee is one of the founding members of the National Health Insurance system in Taiwan. Since 2003 he serves as the Deputy Director General of National Health Insurance Administration, Ministry of Health. And he is also an adjunct professor at the Institute of Hospital and Health Care Administration in National Yang Ming University since 2007.

Christina WATERS, Ph. D, MBA, President/CEO/Founder, RARE Science Inc., USA 
 
Dr. Christina Waters is an Executive in Residence at the Innovation Institute Lab, a life science incubator. In addition, she is CEO and Founder of RARE Science, a non-profit research organization which accelerates therapeutic solutions for kids with rare disease. She serves as a Scientific Advisory board member, for Global Genes | Rare Project, a Life Science strategy consultant and a former Senior Advisor for Personalized Medicine and Health Informatics for Pricewaterhouse. Coopers’ serving academic, research and clinical organizations across the healthcare continuum.

Francis X. McCORMACK, MD, Professor, Department of Internal Medicine, University of Cincinnati School of Medicine, USA 
 
Dr. McCormack is professor and director of pulmonary, critical care and sleep medicine at the University of Cincinnati. He has a longstanding interest in rare genetic interstitial lung diseases including lymphangioleiomyomatosis and Langerhans cell histiocytosis. His laboratory and clinical research goals focus on developing new therapies.

Guangping GAO, Ph.D, Professor, Microbiology & Physiological Systems, Penelope Booth Rockwell Professor in Biomedical Research, Director, Horae GeneTherapy Center and Vector Core, University of Massachusetts Medical School, USA 
 
Dr. Gao’s work involves the discovery of the human aspartoacylase gene and mutations responsible for Canavan disease. Dr. Gao has published 212 papers in peer-reviewed journals, edited 5 books and have 121 granted patents some of which have been licensed to more than 10 pharmaceutical companies as well as 215 patents pending. Dr. Gao serves on the Board of Directors of American Society of Gene and Cell Therapy (ASGCT) and is the vice president of ASGCT. He also serves on many other national and international research organizations. He cofounded Voyager Therapeutics; a Cambridge (MA, USA) based biopharmaceutical company.

Harvey F. LODISH, Ph. D, Professor of Biology and Professor of Bioengineering, Massachusetts Institute of Technology, USA 
 
Dr. Lodish has isolated, cloned, and characterized numerous proteins and noncoding RNAs that play key roles in formation of blood and fat cells and that regulate metabolism of close and fat acids. He has cofounded a company called Rubius, that uses gene-modified red blood cells as vehicles for the long-term introduction into the human body of many novel therapeutics. He is the lead author of the textbookMolecular Cell Biology; the eight edition was published in April 2016 and the book has been translated into 12 languages.

Kevin Rufang HUANG, President of Chinese Organization for Rare Disorders, China 
 
Huang Rufang graduated from Zhejiang University City College. He is the founder and the president of Chinese Organization for Rare Disorders. As he himself is a patient with a rare disease, he introduced the concept of rare disease in China via public benefit activities. In the past ten years he has gradually increased the awareness of rare diseases and the patients in the Chinese society. He is the pioneer and practitioner of the rare disease field in China and has become an acknowledged iconic figure the field in China.

Manuel POSADA, Director, Institute of Rare Diseases Research, ISCIII & President of ICORD, Spain 

Mark J. PYKETT, VMD, MD, Presidet/CEO, Agilis Biotherapeutics,USA 
 
Dr. Pykett is the President and Chief Executive Officer of Agilis Biotherapeutics, and he has two decades of experience in the pharmaceutical industry. Previously he served as Chief Executive Officer of Navidea Biopharmaceuticals, a precision medicine company focused on oncology and neurology. Prior to Navidea, Dr. Pykett was President and Chief Operating Officer of Alseres Pharmaceuticals. Before Alseres, Dr. Pykett held senior executive roles at several public and private companies, including CEO of Cytomatrix and President of Cryogenics, focused on a range of therapeutic areas, indications and products.

Meryem NIMOUR, MD, Vice President, Medical Affairs for Rare Disease in Emerging Markets, Pfizer, USA  
 
Meryem Nimour is a qualified MD and has 18 years’ experience in the pharmaceutical industry. She fully established the medical functions in Pfizer Algeria, built and developed the medical team. She has also worked for with the European brand team and she has been the Medical Lead for Africa and the Middle East based in Dubai. In January 2016 she took the position of Rare Disease, Cardio-Vascular-Metabolic, Pain and CNS, Inflammation and Immunology Medical Lead for Latin America, Asia Pacific and Africa Middle East. In July 2016 Meryem was appointed Vice President Medical Affairs for Rare disease in Emerging Markets and is now based in New York.

Mengchun GONG, MD, Executive Director, National Rare Disease Registry System, China 

Medical Informatics Consultant, Fudan University, Children’s Hospital

Graduated from Peking Union Medical College with a Medical Doctor degree in 2011, Dr. Gong Mengchun entered PUMC Hospital and accomplished the internal residency training in 2014.  He also worked in University of California, San Francisco as a visiting scholar in 2014. He joined InterSystems as the Physician Executive in 2015 and brought the advanced medical informatics technologies worldwide to Chinese hospitals and institutes. From 2016, He took the position of the Executive Director of the National Rare Diseases Registry System of China and started to lead the team, composed of over 20 medical institutes in China, to build this nation-wide patient registry system for more than 50 kinds of rare diseases, aiming to recruit over 50, 000 cases in 5 years. Dr. Gong also hold the position of Medical Informatics Consultant for the Translational Medicine Center of Fudan Univeristy, Children’s Hospital, which is ranked as the No.1 Children’s Hospital in China and is one of the leading institutes to provide medical genetics consultancy service to inherited diseases. The major research area of Dr. Gong is medical informatics, covering the directions of ontologies/terminologies, clinical natural language processing, phenotyping based on EMR, integration of phenome and biological omics data and the further data mining .

Raman RAJAKANTH, Executive Director, Rainbow Across Border, Singapore 
 
Raj has been involved in non-profit healthcare management for more than 18 years, focusing on illness specific programs for patients and their caregivers. While he holds a special interest in Rare Diseases, he has also been engaged in the areas of Lung Health, Blood Disorders, Cardiovascular Health and Diabetes. At the moment, Raj is working on a regional project to collate and analyze evidence of the impact of rare disease on patients and caregivers.

Renchi YANG, MD, Director, Institute of Hematology, Chinese Academy of Medical Sciences, China  
 
Professor Renchi Yang did his postdoctoral training at Institute des Vaisseaux et du Sang, Paris, France. He has been a professor at Institute of Hematology and Hospitalof Blood Diseases, Chinese Academy of Medical Sciences (CAMS) since 2003. Hehas published extensively on the pathogenesis and management of immune thrombocytopenia and management of hemophilia care in China. He is the Director of the National Hemophilia Registry Center, Chair of the Hemophilia Treatment CenterCollaborative Network of China, President of National Hemophilia Cooperative Group.He is currently the translated edition editor of Haemophilia, the official journal of the World Federation of Hemophilia (WFH).

Shuyang ZHANG, Vice President, Peking Union Medical College Hospital, China 
 
Shuyang Zhang, MD, PhD, FACC, Professor, Physician, Supervisor, Department of Cardiology; Director of Clinical Pharmacology Research Center, Vice Director of Translational Research Center and Vice President at Peking Union Medical College Hospital (PUMCH); Vice Chancellor, Chinese Academy of Medical Sciences & Peking Union Medical College. Professor Zhang has rich experiences in diagnosis and treatment of various cardiovascular diseases, including rare and complicated cases. She specialized at screening, diagnosing and treatment of coronary heart disease, hypertension, dyslipidemia, diabetes and metabolic syndrome. Her expertise in patient care and clinical research has been widely recognized by patients and peers.

Terence R.FLOTTE, MD, Provost, Dean and Professor, Horae Gene Therapy Center, University of Massachusetts Medical School, USA 

Terry Flotte, MD, was recently appointed as the Celia and Isaac Haidak Distinguished Professor of Medical Education. Dr. Flotte’s research has been continuously NIH funded for 24 years investigating the delivery of therapeutic genes and miRNA with recombinant vectors for genetic diseases, such as alpha-1 antitrypsin (AAT) deficiency. In 1995, he was the PI of the first human use of rAAV, in a cystic fibrosis (CF) clinical trial. Since then, his lab has conducted several Phase 1 clinical trials for both AAT and CF as well as a Phase 2 clinical trial in AAT with vectors developed in his lab He currently serves as Editor-in-Chief of Human Gene Therapy.

Wendy CHUNG, MD, PhD, Kennedy Family Professor of Pediatrics and Medicine, Columbia University, USA 
 
Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine.  Dr. Chung directs NIH funded research programs in human genetics of obesity, breast cancer, pulmonary hypertension, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She leads the Precision Medicine Resource in the Irving Institute at Columbia University.  She has authored over 300 peer reviewed papers and 50 reviews and chapters in medical texts. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and the Institute of Medicine Committee on Genetic Testing. 

Xiarong LI, Ph.D, CEO/Founder, GeneDock, China

Dr. Xiarong Li is CEO of GeneDock. He received the PhD degree from Institute of Automation of Chinese Academy of Sciences. He was the Chief Data Scientist at Alibaba Umeng and had much experience on distributed computing and large-scale machine learning systems. He founded GeneDock in 2014, which has become the leading cloud-based genomics data platform in China. With advanced genomics data technologies, GeneDock is helping academic, clinical and industrial customers to manage, analyze and apply the massive genomics data.

Xiaochun LIANG, Professor, Director of Chinese Traditional Medicine, Peking Union Medical College Hospital, China 
 
Professor, LIANG Xiao-Chun acquired her Master of Medicine from Peking Union Medical College (PUMC) in 1987 and became the visiting professor of the Institute of Kampo Medicine, Texas University, Saint Antonio, USA between 1999 and 2000. Up to now, she has taken charge of 18 projects, delivered more than 200 papers in various journals and has written or edited more than 20 academic books. She has been awarded 11 awards, such as ‘Beijing Science and Technology Achievement Award’, et al.

Xuefan GU, MD, Ph.D,Vice President, Director, Xin Hua Hospital Affiliated to Shanghai Jiaotong University, China 
 
Professor Xuefan Gu has a PhD degree from Pierre et Marie Curie University, Paris, France. He is the pioneer in the field of inborn errors of metabolism and neonatal screening in China. He established the Chinese Neonatal Screening Society, attached China Preventive Medical Association in 1999 and became the first President of Society. He has published more than 80 peer-reviewed articles in English and more than 200 articles in Chinese. He was awarded the "Outstanding Contribution Award" by the Foundation for Birth Defect Prevention and Control.

Yaping YANG, Ph. D, FACMG, Baylor Genetics, Baylor College of Medicine, USA 

Dr. Yang got her PhD in Genetics from Texas A&M University (College Station, TX). Dr. Yang has over 15 years of experience in clinical molecular diagnosis. Currently she is the Next-Generation Sequencing (NGS) Division Chief at Baylor Genetics. She has been senior author for multiple publications in high impact journals and her publications have been cited extensively and have facilitated clinical NGS sequencing, genomic medicine and the understanding of genetic disorders. The lab she works at helps perform clinical reporting for National Human Genome Research Institute (NHGRI) eMERGE project and Dr. Yang is a co-investigator for all three NHGRI grants.

Wei ZHANG, Ph.D, Director of AmCare Genomics Laboratory, China

Dr. Zhang is a fellow of American College of Medical Genetics and has extensive research experience and robust scientific training in both clinical and research laboratories. He pioneered the gene-to-structure approach in studying genetic variation in human diseases. He has written more than 70 peer-reviewed scientific publications.  His current research focuses on elucidating the genotype-phenotype correlation by studying genetic variations in human genome through gene-to-structure approach.  His clinical research interest is in the translational medicine focusing on bringing the state-of-the-art massively parallel sequencing technologies to clinical laboratory, addressing the key questions regarding clinical sensitivity and specificity.

Zhenhua DONG, Professor, Chinese Traditional Medicine, Peking Union Medical College Hospital, China