Jean-Jacques Cassiman is emeritus Human Genetics Professor KU Leuven. Before, he held posts in numerous organisations, such as the European Society of Human Genetics and the European Platform for Patients’ Organisations, Science and Industry (Epposi).
Joseph is a biochemist-pharmacologist and worked for many years in hospital-based research and for the pharmaceutical industry. Presently, he is an independent consultant on regulatory matters. He supports the Paediatric Task Force for the European Organisation for Rare Disorders (EURORDIS) and focuses on rare neuromuscular diseases. Within RD-Connect, he is a member of the Scientific Advisory Board (SAB), Rare Disease Patient and Ethics Council (RD-PEC) and Patient Advisory Council (PAC).
Professor Milan Macek Jr. MD, DSc is the chairman of the Department of Biolog and Medical Genetics at the Charles University in Prague – the largest academic medical and molecular genetics institution in the Czech Republic. As a participant of numerous European projects, he contributes to dissemination of knowledge in genetics in Central and Eastern Europe. Within RD-Connect, he is a member of the Rare Disease Patient and Ethics Council (RD-PEC).
Deborah Mascalzoni is a senior researcher at the Centre for Research Ethics & Bioethics at the Uppsala University, where she focuses on work with RD-Connect. Her research interests include genetics and new technologies, informed consent, patient communication, privacy & data sharing and the role of stakeholders in medicine. She is a member of the Rare Disease Patient and Ethics Council (RD-PEC) in RD-Connect.
Pauline is a medical sociologist with a background in education, social policy and participatory methods. Her research encompasses disability, patient participation and bioethics, in particular notions of power, the patient voice, perceptions of quality of life and how policy serves individuals.
Daniel Renault is the Chair of the Federation of European Associations of patients affected by Renal Genetic Diseases (FEDERG) and a Board Member of Association for Information and Research on Genetic Renal Diseases (AIRG-France) since 2010. His daughter is affected by Alport Syndrome.
Inge Schwersenz’s son has Spinal Muscular Atrophy. She wants to make sure that patients in clinical trials are not exposed to any harm, while making sure that there are no unreasonable delays in promising clinical trials.
Chris is a patient with beta thalassaemia major representing the UK Thalassaemia Society and has been a tireless patient advocate for EURORDIS and the Rare Disease community at national and international level for many years.
Prof. Volker Straub is a neurologist specialised in neuromuscular genetics of muscular dystrophies. Within the neuromuscular research group in Newcastle, he is engaged in studies using zebrafish and mouse models. He has a special interest in the use of MRI in muscular dystrophies to reveal the dynamic processes underlying muscle fibre de- and regeneration.
Simon Woods is Senior Lecturer and Co-Director of the Policy Ethics and Life sciences Research Institute at Newcastle University. He is vice-chair of an research ethics committee at the British National Health Service (NHS) and is a member of the National Research Ethics Service National Ethics Advisors’ Panel.