Charis Antoniades is a BHF Chair of Cardiovascular Medicine at University of Oxford, and Consultant Cardiologist at Oxford University Hospitals. He was awarded his PhD title with hons on the genetics of premature myocardial infarction, and during his PhD studies he won multiple Young Investigator award competitions, including those of the European Society of Cardiology (ESC) twice, the ISHR and others. He has been awarded the Outstanding Achievement Award of the basic Cardiovascular Science Council of the European Society of Cardiology in 2016, a National clinical excellence award in 2020 and has given various named lectures. He is the Director of Acute Vascular Imaging Centre of the University of Oxford, the Deputy Head of the Division of Cardiovascular Medicine and director of the Oxford Academic cardiovascular CT programme (and Oxford Academic Cardiovascular CT Core Lab). He is also the Chair of the British Atherosclerosis Society.
His research is focused on the study of the cross-talk between adipose tissue and the cardiovascular system, with specific interest in the non-invasive imaging of inflammation. He directs the Oxford Heart Vessels and Fat programme, and coordinates large national flagship programmes (such as the UK C19-CRC) and international multicentre studies (e.g. ORFAN study). His research has led to the development of novel imaging biomarkers using Computed Tomography, with major role in cardiovascular risk prognosis.
He is also deputy editor of Cardiovascular Research and one of the editors of British Journal of. He has published more than 300 peer review scientific papers in high impact journals like the Lancet, Science Transl Med, Circulation, JACC, EHJ and others. He is one of the founders of the Scientists of Tomorrow of the ESC and has served as vice chair in the Marie Curie Fellowships panel of the European Commission. He is also founder and Chief Scientific Officer of Caristo Diagnostics, a university of Oxford spinout company.
Dr. Walsh completed his MD and PhD degrees at The University of Chicago, neurology residency and chief residency at Massachusetts General Hospital, and postdoctoral training in Genetics with Professor Connie Cepko at Harvard Medical School. In 1993 he became Assistant Professor of Neurology at Harvard and Beth Israel-Deaconess Medical Center, and was promoted to Bullard Professor of Neurology in 1999. In 2002 he was appointed an Investigator of the Howard Hughes Medical Institute. From 2003-2007 he served as Director of the Harvard-MIT Combined MD-PhD training program. He moved to Boston Children’s Hospital in 2006, becoming Chief of Genetics, which in 2014 merged with the Program in Genomics to become the Division of Genetics and Genomics. The Division contains more than thirty full-time faculty members, roughly evenly divided between clinicians treating children with rare genetic disease, and researchers studying the genetic causes of human illness.
Dr. Walsh’s research has focused on the development and function of the human cerebral cortex, pioneering the analysis of genetic diseases that affect the developing brain, resulting in epilepsy, intellectual disability, autism spectrum disorders, and other conditions. His lab has identified more than three dozen neurological disease genes by establishing world-wide collaborations, and pioneering the analysis of recessive brain disorders in countries, especially in the Middle East, where marriage between distant relatives is common. He has described how a few disease genes essential for constructing the brain were also important targets of the evolutionary processes that shaped the human brain, resulting in the founding of the Allen Discovery Center for Human Brain Evolution in 2017. Recent work has pioneered the understanding of clonal somatic mutations as important causes of human focal epilepsy and autism, and the remarkable genomic diversity of single neurons in human brain.
Dr. Walsh’s research has been recognized by a Javits Award from the NINDS, the Dreifuss-Penry Epilepsy Award from the American Academy of Neurology, the Derek Denny-Brown and Jacoby Awards from the American Neurological Association, the Clinical Research Award from the American Epilepsy Society, the Pruzhansky Award from the American College of Medical Genetics, the Wilder Penfield Award from the Middle Eastern Medical Assembly, the Cajal Club Discoverer Award, the Perl-Neuroscience Award from the University of North Carolina, the Distinguished Alumni Award from the University of Chicago, and the Gruber Neuroscience Prize in 2021. Dr. Walsh is an elected fellow of the American Association for the Advancement of Sciences, and an elected member of the American Association of Physicians, the National Academy of Medicine, the American Academy of Arts and Sciences, and the National Academy of Sciences.
Dr David Hansen is a recognised leader in Digital Health in Australia. David is the CEO and Research Director of the Australian e-Health Research Centre (AEHRC) – CSIRO’s Digital Health Research Program and an unincorporated joint venture between CSIRO and the Queensland Government. David has led the AEHRC to be the pre-eminent health and biomedical informatics program in Australia – with a $27m per annum budget, over 100 scientists and engineers and 30 students. As CEO of the AEHRC David reports to a joint venture board consisting of representatives of Queensland Health and CISRO and an independent chair. Within CSIRO David is part of the leadership team of the CSIRO Health and Biosecurity Business Unit. David contributes to Queensland Health in many roles, including membership of the Queensland Health e-Health executive committee.
His extensive leadership experience in building innovation-based organisations that inform the health and life sciences industries has resulted in a rare mix of skills and experience, incorporating executive leadership, technical research, and product and business development, spanning both the private and public sectors.
David has held senior positions leading technology research and development with LION Bioscience Ltd. in Cambridge, UK, and the Australian e-Health Research Centre, CSIRO in Australia. David is currently involved in leadership positions in many national research initiatives including a member of the National Steering Committee for the NHMRC Australian Genomics Health Alliance, a member of the leadership team for the NHMRC Centre for Research Excellence in Digital Health and a member of the leadership team of the Australian Alliance for Artificial Intelligence in Healthcare. David is also a workstream leader for the Global Alliance for Genomics and Health. David’s leadership is also recognised in the roles he plays broadly in Australia’s digital health community. This includes previous Board Chair of the Health Informatics Society of Australia, member of the Clinical and Technical Board Advisory committee for the Australian Digital Health Agency.
David maintains his research interests in both health informatics and bioinformatics, working with AEHRC research teams in areas such as data interoperability, description logic, data analytics and bioinformatics. David also leads research in the Australian Genomics Health Alliance, Queensland Genomics Health Alliance and as part of his role with the Global Alliance for Genomics and Health.
Dr Denis Bauer is an internationally recognised expert in machine learning and cloud-computing who is processing genomic data of population-scale cohorts and developing new genome editing strategies.
Over 18 years of data science and problem-solving experience
Over 9 years of experience in translational innovation with international reputation
Over 8 years of people and project management experience
Fatih Ezgü is a Professor of Pediatrics and Head of the Department of Pediatric Genetics at Gazi University, Faculty of Medicine, Department of Pediatrics, Ankara, Turkey. He is also a faculty at the Department of Pediatric Metabolic Disorders at the same institution. After obtaining his medical degree from Ankara University, Ankara, Turkey in 1993, Professor Ezgü completed his paediatric residency at Gazi University, Ankara. In 1996, he was certified by the Educational Commission for Foreign Medical Graduates (ECFMG). Professor Ezgü completed a fellowship in inborn errors of metabolism and worked as a Clinical Instructor and then Assistant Professor of Pediatrics at Gazi University before moving to the Institute of Human Genetics, Cedars-Sinai Medical Center in Los Angeles, USA in 2005. He completed Clinical Genetics Residency training as well as a Research Fellowship for molecular genetics at Intercampus Medical Genetics Training Program in University of California, Los Angeles. In 2007, Professor Ezgü returned to Gazi University as Associate Professor of Pediatrics before assuming his current positions in 2010/11. Professor Ezgü has worked in the field of inborn metabolic and genetic diseases for 25 years and has published over 100 articles in peer-reviewed journals. His primary interests are lysosomal disorders, mitochondrial disorders, clinical dysmorphology and genetic and metabolic bone disease and novel treatments for genetic disorders. Dr. Ezgü is also currently the vice chairman of the Phase I Clinical Trials Center for Genetic Diseases at Gazi University.
Clinical and Biochemical Geneticist
Head, Division of Pediatric Genetic Disorders
Faculty, Division of Pediatric Inborn Metabolic Disorders
Vice Head, Phase 1 Clinical Trials Center for Rare Disorders
Department of Pediatrics
Gazi University Faculty of Medicine, Turkey
Fowzan S Alkuraya is a Professor of Human Genetics at Alfaisal University and the Chairman of the Department of Translational Genomics at King Faisal Specialist Hospital and Research Center. He joined medical school (King Saud University) before turning 15 and graduated first in his class with first class honor. He did his pediatric residency at Georgetown University Hospital, followed by a fellowship in clinical genetics and another in molecular genetics at Harvard Medical School. He also did a postdoctoral research fellowship in the area of developmental genetics in the lab of Prof. Richard Maas at Harvard Medical School. He returned to his native Saudi Arabia to establish the Developmental Genetics Lab, which later evolved into the Center for Genomic Medicine at KFSHRC. He is an authority in the area of Mendelian genetics with more than 480 published manuscripts that describe his lab’s discovery of hundreds of novel disease genes in humans as well as many other seminal contributions to the field of human genetics as featured in profiles published by The Lancet and Science. He is a frequently invited speaker at local, regional and international conferences, on the editorial board of prominent human genetics journals, and the recipient of numerous prestigious awards including William King Bowes Award in Medical Genetics (first non-US based winner), King Salman Award for Disability Research and Curt Stern Award (first non-US based winner).
Professor of Human Genetics, Principal Clinical Scientist and Senior Consultant
Chairman, Translational Genomics (Center for Genomic Medicine)
King Faisal Specialist Hospital and Research Center, KSA
George P. Patrinos is Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy and holds adjunct Professorships at Erasmus MC, Faculty of Medicine, Rotterdam (the Netherlands) and the United Arab Emirates University, College of Medicine, Department of Pathology, Al-Ain (UAE). Also, since 2010, he is Full Member and Greece’s National representative in the CHMP Pharmacogenomics Working Party of the European Medicines Agency (EMA, Amsterdam, the Netherlands) and since 2018 Co-Chair of the Global Genomic Medicine Collaborative (G2MC)
George is currently Head of the Laboratory of Pharmacogenomics and Individualized Medicine, the first officially established academic laboratory on pharmacogenomics in Greece. His group consists of more than 35 staff members from graduate students to post-doctoral scientists, covering disciplines from wet and dry lab and public health genomics projects, all focusing on pharmacogenomics and personalized medicine. In particular, his research interests involve discovery work and clinical implementation of pharmacogenomics, focusing in particular in psychiatry but also cardiology and oncology, genomics of rare disorders and transcriptional regulation of human fetal globin genes. Moreover, George’s group is internationally recognized for its involvement in developing National/Ethnic Genetic databases to document the genetic heterogeneity in different populations worldwide and of genome informatics tools to translate genomic information into a clinically meaningful format. Also, George’s group has a keen interest in public health genomics to critically assess the impact of genomics to society and public health.
George has more than 270 publications in peer-reviewed scientific journals, some of them in leading scientific journals, such as Nature Genetics, Nature Rev Genet, Nucleic Acids Res, Genes Dev. Also, he has co-edited the textbook “Molecular Diagnostics”, published by Academic Press, now in its 3rd edition, and several other international textbooks, while he is the editor of “Translational and Applied Genomics” book series. Furthermore, he serves as Editor-In-Chief of the prestigious Pharmacogenomics Journal (TPJ), published by Nature Publishing Group, Associate Editor and member of the editorial board of several scientific journals, such as Human Mutation, Human Genetics, Human Genomics, Pharmacogenomics, etc and has been a member of several international boards and advisory and evaluation committees.
Apart from that, George is the main co-organizer of the Golden Helix Conferences, an international meeting series on Pharmacogenomics and Genomic Medicine.
Dr. Juan M. Corchado (May 15, 1971, Salamanca, Spain) is Professor at the University of Salamanca in the area of Computer Science and Artificial Intelligence. He was Vice-Rector for Research from December 2013 to December 2017 and Director of the Scientific Park of the University of Salamanca. Moreover, he has been elected twice as Dean of the School of Sciences of the University of Salamanca. He holds a PhD in Computer Science from the University of Salamanca and is also a Doctor in Artificial Intelligence from the University of the West of Scotland. Juan M. Corchado is Visiting Professor at the Technological Institute of Osaka since January 2015, Visiting Professor at the Universiti Malaysia Kelantan and a Member of the Advisory Group on Online Terrorist Propaganda of the European Counter Terrorism Center (EUROPOL).
Juan M. Corchado has been a Full Professor at the University of Vigo, where he was Deputy Director at the School of Computer Engineering. He has also been a professor at the University of Paisley (UK) and worked at the Oceanographic Laboratory of Plymouth (UK). Author of more than 200 articles published in specialized international journals and more than 350 works published in the proceedings of scientific congresses, he has given more than 70 invited papers and has been president of the scientific or research committees at more than 60 international congresses.
Full Professor at the University of Salamanca
President of the Air Institute
Visiting Professor at the Osaka Institute of Technology
Visiting Professor at the Universiti Malaysia Kelantan
Director BISITE – Bioinformatics Intelligent Systems and Educational Technology Research Group, Spain
Moeen AlSayed is a Consultant Clinical Geneticist, Clinical Biochemical Genetics and Metabolic Diseases at King Faisal Specialist Hospital & Research Centre in Riyadh, Kingdom of Saudi Arabia and a Professor of Genetics at Al-Faisal University in Riyadh. Professor AlSayed has established and is the Director of the MSc Genetic Counselling Programme at AlFaisal University.
Professor AlSayed is the x-chair of the Department of Medical of the Department of Medical Genetics at King Faisal Specialist Hospital and Research Centre in Riyadh. He served in this position for 11 years. During his tenure as a chair and among many achievements, he has established a completely new and unique Adult Genetics and Metabolic Diseases service and a fully dedicated genetic counselling service in the entire gulf region. The majority of the practicing genetic counsellors in Saudi Arabia are graduates of the MSc Genetic Counselling Programme that was established by Professor AlSayed in 2014.
Professor AlSayed obtained his Bachelor’s degree in Medicine and Surgery (MBBS) from the Faculty of Medicine, King Saud University, Riyadh. He completed his paediatric residency at Yale–New Haven Children’s Hospital, Connecticut, USA and his fellowship in clinical genetics and clinical biochemical genetics at Baylor College of Medicine in Houston, Texas, USA. Professor Al-Sayed has an MBA from the University of Tennessee, USA.
His interests include identification of founder mutations related to metabolic and genetic disorders in the Saudi population, screening and treatment of lysosomal storage diseases (LSDs) and the management of organic acidurias. He is a frequently invited speaker at local, regional and international meetings. Professor Al-Sayed is a founding member of the Middle Eastern Metabolic Group (MEMG), the Saudi Paediatric Association – Medical Genetics Subcommittee, the Saudi Charitable Society for Genetic Disorders, the Saudi Society of Medical Genetics, and the Middle Eastern Lysosomal Storage Diseases Expert Council (MELSDEC). He has served and continues to serve on many advisory boards related to rare genetic diseases.
Since 2019, Professor AlSayed is leading the transformation of MEMG into a Middle Eastern Society of Inborn Errors of Metabolism (MEASIEM). He is a founder member of this society.
Consultant, Clinical Genetics and Clinical Biochemical Genetics
Department of Medical Genetics, King Faisal Specialty Hospital and Research Center
Director of Genetic Counselling
Al Faisal University, KSA
Professor Nigel Laing AO, obtained his PhD from Edinburgh University in 1979. After a one-year postdoc at Oslo University in 1980, he joined the University of Western Australia in 1981. From his PhD until 1987, Professor Laing was a developmental neurobiologist, studying motor neuron and muscle development. He retrained in human molecular genetics at Duke University in 1987-88 and has researched human genetic disease ever since. His Group has identified genes for more than thirty diseases. Professor Laing currently has three major themes in his research: population-based reproductive carrier screening for severe recessive diseases, development of improved molecular diagnostics and development of therapies for genetic muscle diseases. He is one of the three co-leads of Mackenzie’s Mission, the $20m Medical Research Future Fund, Australian Reproductive Carrier Screening Project. Mackenzie’s Mission aims to screen 10,000 couples from the full geographic extent of Australia for 1,300 genes, associated with 750 recessive diseases. This is to research how to deliver carrier screening free to any couple in Australia who might want to use it. He collaborates with Dr Gina Ravenscroft on continuing disease gene discovery.
Professor Laing was made an Officer of the Order of Australia in 2015. He is a Fellow of the Australian Academy of Health and Medical Sciences (FAHMS), the Faculty of Science of the Royal College of Pathologists of Australasia (FFSc(RCPA)) and the Human Genetics Society of Australasia (FHGSA). He has been an NH&MRC Fellow since 1997, an NH&MRC Principal Research Fellow since 2006.
NH&MRC Principal Research Fellow
Group Leader Neurogenetic Diseases Group
Centre for Medical Research University of Western Australia
Harry Perkins Institute of Medical Research
QEII Medical Centre, Australia
Paul Gissen is the Head of “Genetics and Genomic Medicine” Department at the UCL GOS Institute of Child Health and Honorary Consultant in Paediatric Metabolic Diseases at Great Ormond Street Hospital for Children NHS Foundation Trust. He leads “Gene, Stem and Cell Therapies” theme of the GOSH and GOS ICH Biomedical Research Centre.
Having obtained his medical degree with commendation from the University of Glasgow in 1995, Paul completed his Paediatrics training at Manchester, Sheffield and Birmingham Children’s hospitals specializing in inherited metabolic disorders.
During his PhD at Birmingham University Paul identified genetic causes of several rare paediatric diseases and became interested in molecular and cellular basis of intracellular trafficking disorders such as Arthrogryposis, Renal Dysfunction and Cholestasis syndrome, Niemann Pick type C disease and Neuronal Ceroid Lipofuscinoses (NCL).
Paul relocated to UCL Institute of Child Health and Great Ormond Street Hospital for Children in 2011 and was appointed a Clinical Professor of Paediatric Metabolic Medicine in 2013.
The aim of Prof Gissen’s research is to improve disease understanding and treatment of Inherited Metabolic Disorders (IMD).
During his PhD and postdoctoral research Paul focused on the genetics and molecular mechanism of Arthrogryposis, Renal Dysfunction and Cholestasis syndrome, a multi-system disorder with wide range of clinical problems including bleeding, cholestasis, bone and kidney disease. He discovered a novel protein complex that regulates intracellular trafficking of proteins, establishment of cell polarity and organellar biogenesis. The work funded by many different competitive grants allowed his group to publish extensively in this field (Gissen et al, Nat Genetics, 2004, Cullinane et al, Nat Genetics, 2010, Bem et al, Blood, 2015, Banushi at el. Nat Comms, 2016, Hanley et al, Journal of Hepatology, 2017).
Over the past 10 years he developed an interest in development of novel therapies for metabolic disorders. As well as ARC syndrome he is leading or collaborating on various translational laboratory and clinical projects developing genetic therapies in several disorders. Paul has been one of four investigators in the clinical trial of cerliponase alfa, an enzyme replacement therapy in CLN2 type NCL.
Professor, Pediatric Metabolic Medicine
Head, Genetics and Genomic Medicine Research and Education Department
Great Osmond Street Institute of Child Health
Lead for “Gene and Stem Cell Therapies” Theme, GOSH/ICH Biomedical Research Centre
Honorary Consultant, Pediatric Metabolic Medicine
Great Osmond Street Hospital for Children, UK