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Understanding the role of cellular mosaicism in PCDH19 epilepsy and intellectual disability
日期:2018-09-13

题目:Understanding the role of cellular mosaicism in PCDH19 epilepsy and intellectual disability; 报告人:Jozef Gécz教授;主持人:夏 昆 教授;时间:2018年9月17日(星期一) 上午10:00;地点:中南大学医学遗传学研究中心老楼五楼报告厅

题目:Understanding the role of cellular mosaicism in PCDH19 epilepsy and intellectual disability

报告人:Jozef Gécz, PhD

Professor of Human Genetics and Chair for the Prevention of Childhood Disability,

NHMRC Senior Principal Research Fellow

University of Adelaide

Australia

主持人:夏 昆 教授

时间:2018年9月17日(星期一) 上午10:00

地点:中南大学医学遗传学研究中心老楼五楼报告厅

Professor Jozef Gécz is National Health and Medical Research Council Senior Principal Research Fellow and Channel 7 Inaugural Chair for the Prevention of Childhood Disability at the University of Adelaide and South Australian Health and Medical Research Institute. Professor Gecz’s career spans 32 years of competitive research in genomics and molecular biology of childhood onset neurological disorders across three countries, Slovakia, France and Australia. Professor Gecz discovered or contributed to the discovery of >200 disease genes for various forms of intellectual disabilities, epilepsies, autisms and cerebral palsies. His achievements have been recognised, among others, also by his election to the Fellowship of the Australian Academy of Science, Australian Academy of Health and Medical Sciences and the Faculty of Science of the Royal College of Pathologists of Australasia.

Professor Gecz’ research is patient centric and focuses on the application of genomics for precise diagnosis of childhood onset neurodevelopmental disabilities to empower early intervention and personalised management and treatment.