Speakers
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 […]
BETTICA Paolo
Paolo Bettica is an Italian physician with a PhD in Pharmacology and Toxicology and a specialization in Clinical Pharmacology. After more than 10 years in academia and hospital, he started working in Pharmaceutical companies with increasing responsibilities. Currently he is the Chief Medical Officer and Vice president Drug Development of the Italfarmaco Group. Leading the […]
BROOKS Philip John (P.J.)
Philip J. (P.J.) Brooks is the acting director of NCATS’ Division of Rare Diseases Research Innovation. Brooks represents NCATS in the NIH-wide Gene Therapy Working Group, the Regenerative Medicine Innovation Project and the International Rare Diseases Research Consortium (IRDiRC). He also is the working group co-coordinator for the NIH Common Fund program on Somatic Cell Genome Editing, one […]
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 […]
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 […]
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 […]
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 […]
