Speakers

Professor Henri Gerrit (Han) Brunner
(MD, PhD)
Professor of Human Genetics at Radboud University Nijmegen Medical Center, and Maastricht University Medical Center

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Han Brunner is full professor and head of the department of Human Genetics at Nijmegen University Hospital, and  at Maastricht University Medical Center, in the Netherlands.

Han Brunner discovered a large number of disease genes, by applying cutting- technologies (genomic microarrays, exome sequencing, and whole genome sequencing) to understand genetic diseases. Much of this work is on neurodevelopmental conditions such as intellectual disability and abnormal behaviour. His work has established  that in non-consanguineous populations, the  major cause of intellectual disability lies in spontaneous new mutations. Han Brunner received a number of international awards for his work in translating novel research findings into patient diagnosis and care. He is an elected member of the Academia Europea and of the Royal Netherlands Academy of Arts and Science.

Dr William A. Gahl
(MD, PhD)
Senior Investigator, Medical Genetics Branch, Director National Human Genome Research Institute
 

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Dr. William A. Gahl graduated from the Massachusetts Institute of Technology in 1972 and earned his M.D. and Ph.D. from the University of Wisconsin. He served as pediatric resident and chief resident at the University of Wisconsin hospitals and completed clinical genetics and clinical biochemical genetics fellowships at the NIH. Dr. Gahl elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the Food and Drug Administration as the treatment for cystinosis. Gahl has published more than 480 peer-reviewed papers and trained 42 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards. In 2018, he was elected to the National Academy of Medicine.

Associate Professor Steven Gray
(PhD)
Department of Pediatrics, University of Texas Southwestern Medical Center
 

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Dr. Steven Gray earned his Ph.D. in molecular biology from Vanderbilt University in 2006, after receiving a B.S. degree with honors from Auburn University. He performed a postdoctoral fellowship focusing on gene therapy in the laboratory of Jude Samulski at UNC Chapel Hill.  He is currently an Associate Professor in the Department of Pediatrics at the University of Texas Southwestern Medical Center (UTSW).  Dr. Gray is the director of the UTSW Viral Vector Facility and maintains affiliations with the Departments of Molecular Biology, the Department of Neurology and Neurotherapeutics, the Eugene McDermott Center for Human Growth and Development, and the Hamon Center for Regenerative Science and Medicine at UTSW.  His expertise is in AAV gene therapy vector engineering, specifically for gene delivery to the nervous system.  His research focus includes development of gene therapy treatments for Rett Syndrome, Giant Axonal Neuropathy, Tay-Sachs, Sandhoff, Krabbe, AGU, Charcot-Marie-Tooth, Batten, and Austin diseases.   

Professor Shigeo Kure
(MD, PhD)
Professor, Department of Pediatrics, Tohoku University School of Medicine

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Shigeo Kure is a professor, Department of Pediatrics, Tohoku University School of Medicine, Japan. He also serves as a deputy director of Tohoku Medical Megabank Organization (ToMMo), which have established and follows a biggest genome cohort in Japan with 150,000 participants in Sendai city. He is a pediatric geneticist, and have identified many disease-casing genes, nonketotic hyperglycinemia, hereditary galactocemia type IV, steroid-dependent nephrotic syndrome and Moyamoya disease. In 1999, he proposed a new disease entity of tetrahydrobiopterin-responsive PKU, providing a therapeutic basis of the first drug therapy for PKU. For his research, he received the Grand Prize from Japanese Society of Inherited Metabolic Disease in 2010, and the Commendation for Science and Technology from the Minister of Education, Culture, Sports, Science and Technology in 2014.

Professor Eva Morova
(MD, PhD)
Professor of Medical Genetics at Mayo Clinic School of Medicine

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Dr Morava did her specialty trainings in Europe and also in the US, as pediatrician, geneticist and metabolic specialist. Her major clinical expertise is inborn errors of metabolism (IEM). She has decades of experience in the diagnostics, follow-up and treatment in IEM, especially in mitochondrial disorders and congenital disorders of glycosylation. She is actively involved in developing novel therapies in genetic disorders. Currently she focusses on clinical trials in IEM. She is also the main PI of the multicenter study on the Natural history of congenital disorders of glycosylation. She is the Editor in Chief of the Journal of Inherited Metabolic Disease. This journal has the mission to publish on the most current topics, clinical findings and research in inborn errors of metabolism, and share the knowledge with colleagues and scientists. Dr Morava has a research laboratory, focusing on translational research in mitochondrial disorders and congenital disorders of glycosylation. She is working in close collaboration with the UMDF and CDG-CARE, where she is an advisory board member. She is passionate about education, especially patient education.