Speakers
BAK Marieke
Marieke Bak is an Assistant Professor in the Department of Ethics, Law, and Humanities at Amsterdam UMC and a Senior Research Associate at the Institute for the History and Ethics of Medicine at the Technical University of Munich (TUM). She earned her PhD in Medical Ethics from the University of Amsterdam, focusing on the ethics […]
BAKER Sue
Sue Baker is currently the Program Director of the Rare Care Centre at Perth Children’s Hospital in Western Australia and co-founder of the Global Nursing Network for Rare Diseases. With over 40 years of experience in children’s healthcare in the UK and Western Australia, Sue has established her place at the forefront of innovative service […]
BAYNAM Gareth
Gareth Baynam is a the Medical Director of the Rare Care Centre at Perth Children’s Hospital in WA, a clinical geneticist, intrapraneur and clinician scientist. Gareth equitably translates innovations focussed to unmet rare diseases (RD) need, including through public and public- private partnerships, locally and internationally. He has led the clinical implementation of genomic and […]
BONHAM Jim
Prof Bonham is currently the President of the International Society of Neonatal Screening and national laboratory adviser for newborn screening in the UK on behalf of NHS-England and adviser to the National Screening Committee on behalf of Department of Health and Social Care. He has a long standing interest in the diagnosis of inherited metabolic […]
CIOFFI Gina
An experienced advocate for people living with rare diseases, Gina served 7 years working as a legislative staffer in the US Congress before joining Cooley’s Anemia (Thalassemia) Foundation as National Executive Director where she drove initiatives to raise disease awareness, drive science and expand partnerships with stakeholders for more than 16 years. Gina then moved to industry as Head of […]
CREMONA Tiziana
Dr.Cremona Tiziana Patrizia holds a strong academic and research background in cellular and molecular biology. She studied cellular and molecular biology at University of Rome Tor Vergata, she continued her education and received a master on Biology applied at Biomedical Research at University of Rome La Sapienza. Her academicjourney continued obtaining a PhD in Biomedical […]
CROMBIE Catriona
Dr Catriona Crombie is an expert in translational medicine, specifically moving research out of universities and into the commercial environment. She has worked for over 15 years in research funding in the state and charity sectors. Catriona is Head of the LifeArc Rare Disease Translational Challenge. She has responsibility for LifeArc’s rare disease research portfolio, […]
ELEFTHERIOU Despina
Professor Despina Eleftheriou is a distinguished expert in paediatric and adolescent rheumatology, specializing in systemic vasculitis and autoinflammation. Since 2006, she has been an integral part of Great Ormond Street Hospital (GOSH), where she leads clinics dedicated to rare inflammatory disorders. In addition to her clinical roles, Professor Eleftheriou holds a professorship at the UCL […]
FLYGARE Johan
Research focus: Develop therapies for Diamond-Blackfan Anemia. Current positions: Director of the Swedish national research school in advanced therapies. Deputy head of Department of Laboratory Medicine, Lund University. Education: 2007: MD and PhD from Lund University, Sweden 2007 -11: Postdoctoral education at Whithead Institute, MIT, USA
FOTINO Carmen
Carmen graduated in Biological Sciences at the University of Pisa, Italy in 2002. In 2008 she obtained a Ph.D. in Endocrinology and Metabolic Sciences from the University of Pisa, Italy working on the genetics of Type 2 Diabetes and Obesity. In 2009 she joined the Diabetes Research Institute at the University of Miami where she […]
GRIBBON Philip
Philip is Head of Discovery Research at the Fraunhofer ITMP and is involved in several national and European consortia working on targeted protein degradation, target validation, and compound repurposing especially in the rare disease setting. He also serves as Director General of the European Infrastructure for Chemical Biology, EU-OPENSCREEN, and as President of the Society […]
HELLEBRAND Thomas
Thomas works for the Dutch Ministry of Health Welfare and Sport as a senior policy officer on the European Health Data Space. I that capacity he has been involved in the formation of national positions and the political negotiations on the EHDS. Currently, he is preparing the national implementation of the EHDS with a focus […]
HENDRIKSZ Chris
Chris Hendriksz qualified as a medical doctor in South Africa in 1985 from the University of Pretoria. He completed his Master’s degree in Sports Medicine at the same university. Following a rare disease diagnosis of his own child, he moved to the United Kingdom, where he continued his studies, becoming an expert in inborn errors […]
HIVERT Virginie
Joined EURORDIS in June 2014. Referent for EURORDIS’ activities related to the development of medicines for people living with rare diseases, patient empowerment (e.g. EURORDIS Summer School) and patient engagement in medicines development. Between June 2014 and January 2022, she has served as Observer on the EMA Committee for Orphan Medicinal Products (COMP), her role […]
HOISCHEN Alexander
Alexander Hoischen’s heads the research group ‘Genomic Technologies for Immune-Mediated and Infectious Diseases’ (https://www.radboudumc.nl/en/research/research-groups/genomic-technologies-for-immune-mediated-and-infectious-diseases) that builds expertise in the identification of rare disease genes using latest genomics tools. We have been the first identifying a disease causing dominant de novo mutation for a Mendelian disorder by exome sequencing [1] followed by several disease gene discoveries […]
JOHNSON Kirsten
Dr Kirsten Johnson is Chair of the Council of Rare Diseases International. She is President and one of the founders of Fragile X International, a global charity representing those with Fragile X Syndrome and Fragile X Premutation Associated Conditions. Kirsten is also on the board of EURORDIS – Rare Diseases Europe; an Advisor to the […]
LAURIE Steven
Dr Steven Laurie is a Senior Genomics Data Analyst at the Centro Nacional de Análisis Genómico (CNAG) in Barcelona, specialising in genomic data analysis and interpretation for rare diseases. Originally from Scotland, Dr. Laurie began his research career in molecular genetics before transitioning to human genetics and bioinformatics. He earned his PhD in Biomedicine from […]
NORSTEDT Irene
Irene Norstedt works at the European Commission where she is the Director responsible for the People: Health and Society Directorate within the DG for Research and Innovation. The People Directorate works towards the development of a healthy, safe, more equal, free, open and fair society, where the voice of the citizen and different communities are […]
OESTERLE Sabine
Sabine Österle is the Lead of the Semantic Interoperability Strategy & FAIR Data Team at the SIB Swiss Institute of Bioinformatics. She holds a B.Sc. and an M.Sc. in Interdisciplinary Science from ETH Zurich, where she also earned her Ph.D. within the Department of Biosystems Science and Engineering. Sabine has been a driving force in […]
ORENTAS Rimas
Rimas J. Orentas, PhD, is Senior Scientific Director, R&D Immunotherapy, in Miltenyi Biotec, Inc. He leads groups focused on CAR-T cells, NK-CARs, gd T-cell and HSC-engineering in Gaithersburg, Maryland, USA and Bergisch-Gladbach, Germany. Dr. Orentas also holds an adjunct professorship in the Johns Hopkins Bloomberg School of Public Health. He is co-founder of Caring Cross, […]
PARKER Samantha
Samantha Parker is Patient Advocacy Lead at Italfarmaco and Vice Chair of the International Rare Disease Research Consortium. She has over two and a half decades of international rare disease experience in the biopharmaceutical industry. She has a proven track record in patient advocacy, small molecules, gene therapy development, natural history studies, registries, novel patient-centered […]
RANDALL Lindsay
Lindsay Randall graduated as a Children’s Nurse in 2013, after 10 years in the property market. She worked at the Evelina London tertiary children’s hospital across orthopaedics, neurology, cardiology and surgery, before taking on the role of Clinical Educator for Paediatric Surgery. In 2018, Lindsay’s first child, age 2, was diagnosed with ultra rare condition […]
SIREAU Nick
Nick Sireau, PhD, is the CEO and Chair of Trustees at the AKU Society, a patient group that helps people with AKU, a rare genetic disease affecting both his children. The AKU Society and Nick are the winners of the 2021 Members Award by EURORDIS (the European Organisation of Rare Diseases) because of their work […]
SKOUBO Sofie
Sofie Skoubo is a PhD student at the Department of Public Health, Aarhus University, and the National Rehabilitation Center for Neuromuscular Diseases. Sofie’s research focuses on educational support by using the telepresence robot AV1 for children with neuromuscular disease. Since 2020, Sofie has worked with telepresence robots for children with cancer, neuromuscular diseases, and anxiety. […]
VALENTINE Nivedita
As Vice President of Global Product Innovation, Nivedita oversees heads Pharmanovia’s pipeline strategy, with a primary focus on novel therapeutic options in neurology, cardiology, endocrinology & oncology supportive care, as well as the revitalization of legacy iconic brands. Some of her other associations include IRDiRC (International Rare Diseases Research Consortium) task force for funding models […]
VASILEVSKY Nicole
Nicole Vasilevsky is the Associate Director of Data Science in the Data Collaboration Center (DCC) at the Critical Path Institute in Tucson, Arizona, USA. She earned her PhD in Cell Biology from Oregon Health & Science University. Her interests are in developing and applying semantic technologies in the biomedical domain to facilitate novel knowledge discoveries […]
VISSERS Lisenka
I am a pioneer of the translation of genetic research into clinical diagnostics. I started my scientific career with a PhD project in the optimization of high-throughput technologies for the detection of genetic causes underlyinghuman disease, and intellectual disability (ID) disorders in particular. Using such new technologies, I was able to identify several novel syndromes […]
