Although trained as a molecular biologist, Peter ’t Hoen acquired bioinformatics and programming skills and has become proficient in data analysis, data integration and statistics. His main incentive is to make optimal use of available data to improve our understanding of biology in general and muscle biology in particular, and to translate this into clinically relevant applications. He leads a multidisciplinary team of researchers (bioinformaticians, biostatisticians, computer scientists, molecular biologists, biochemists).
Ignacio Abaitua graduated in Medicine and Surgery at the Universidad Complutense de Madrid and is a Specialist in Internal Medicine, Preventive Medicine and Public Health. He is also a University Expert in Multivariate Analysis and in Probability and Medical Statistics. He is a project leader or collaborator in more than 20 research projects at the national and European level.
Dr. María Almeida Parra holds a degree in Pharmacy from the University of Salamanca and obtained her PhD at the University of Salamanca. Currently, she is the Technical Director Assistant of the BNADN and researcher at the Cell Separation Facility of the USAL.
Verónica Alonso received her PhD in Biology from the Complutense University of Madrid. She has worked as a researcher at a number of institutions and has been involved in several European and national projects.
Corrado Angelini is Coordinator of Master Program in Neuromuscular diseases at the University of Padova, Italy. His major research interests are primary biochemical defects neuromuscular diseases, clinical trials, muscle dystrophies, myasthenia gravis, congenital muscle diseases, carnitine and lipid metabolism.
Ségolène Aymé is a medical geneticist, founder of the Orphanet portal, and chair of the Topic Advisory Group on rare diseases at the World Health Organization. She chairs the European Union Committee of Experts on Rare Diseases and is the editor-in-chief of the Orphanet Journal of Rare Diseases. Ségolène is coordinator of the SUPPORT-IRDiRC project and is a member of the Scientific Advisory Board of RD-Connect.
Dr Dorota Badowska is the science communication and impact coordinator at RD-Connect and her work aims at maximising the outputs of the project. Dorota’s background is neuroscience and genetics of psychiatric diseases. She joined the Newcastle team in May 2016.
Chiara has worked for the “Galliera Genetic Biobank” of the Laboratory of Human Genetics of Galliera Hospital in Genova since 2000 and joined to permanent staff of the Human Genetic Laboratory in 2009, responsible for management of the Biobank.
Dr Katharina Beier works as a research assistant at the Dept. of Medical Ethics and History of Medicine in Göttingen, Germany. She is in charge of coordinating the research group “Autonomy and trust in modern medicine.” At the same time she is working as research assistant in the sub-project “Reproductive Autonomy as Family Autonomy? On Family and Trust in Reproductive Medicine“ at the Dept. of Medical Ethics and History of Medicine.
Sergi Beltran studied Biology at the University of Barcelona and obtained a PhD at the Genetics Department in 2006. His background includes working at the Transcriptomics Platform of the Barcelona Science Park and the Bioinformatics and Genomics Research Group at the Center for Genomic Regulation (CRG). From 2007 to 2011 he set up and managed the Bioinformatics Unit at the Scientific and Technological Centers of the University of Barcelona. Sergi joined the CNAG in 2012.
Christophe Béroud has over 20 years of experience in research laboratories and is an expert in bioinformatics (LSDBs, prediction tools, databases) and molecular biology (diagnostic and prenatal diagnostic of DMC). He leads the centre for molecular diagnosis of Congenital Muscular Dystrophies (MDC1A) and is head of the Bioinformatics team in the Inserm UMR_S 910 research unit at the Aix-Marseille University Medical School.
Gaëlle Blandin is a senior research engineer in bioinformatics with a large experience in project management within different research environments. In Christophe Beroud’s team, she leads the group working on Locus Specific DataBases and patient registries in the field of neuromuscular disorders.
Professor Nenad Blau, PhD, was a head of the laboratory for the diagnosis of tetrahydrobiopterin and neurotransmitter disorders at the University Children’s Hospital in Zürich, Switzerland until November 2011 and is now affiliated with the Division of Metabolism in Zürich. For his research in the field of tetrahydrobiopterin and phenylketonuria he received in 2001 the Horst¬ Bickel-Award, in 2005 the Gowland Hopkins Award, and in 2011 he was honored by Asbjørn Følling award
André is a co-founder of Interactive Biosoftware and principal architect of the Alamut software. Prior to embracing bioinformatics he worked as a computer scientist involved in R&D software projects including medical informatics. He has a background in medicine and computer science.
Kym Boycott is a Neurogeneticist at the Children’s Hospital of Eastern Ontario (CHEO) and Investigator at the CHEO Research Institute. She is an Associate Professor and holds a Faculty of Medicine Research Chair in Neurogenetics at the University of Ottawa.
Serge Braun PharmD, PhD has 20 years of experience devoted to neuromuscular diseases in both academic and private laboratories, together with specific expertise in R&D in gene, cell and pharmacology therapies.
Anthony Brookes is an expert in genomics and bioinformatics, with experience in disease and population genetics, DNA variation analysis, and data management for biomedical information. He is currently Professor of Bioinformatics & Genomics at the University of Leicester.
Virginie manages EURORDIS’ participation in projects (including RD Connect) related to infrastructures and technologies facilitating rare disease research such as patient registries, biobanks, clinical bioinformatics and next generation sequencing as well as ethical issues surrounding this pre-clinical research.
Kyle is a respected authority on rare disease patient registries and is a frequent speaker at research conferences. He has a background in consulting, working with pharmaceutical companies to streamline translational research programs through information technology.
Michael Brudno is the Scientific Director of the Centre for Computational Medicine at the Hospital for Sick Children and an Associate Professor in the Department of Computer Science at the University of Toronto.
Kate is a clinical geneticist with an interest in the molecular genetics of the limb-girdle muscular dystrophies and related disorders. She coordinates the EUCERD Joint Action on Rare Diseases and is interested in rare disease policy and the development and implementation of care guidelines. Within RD-Connect, Kate leads the work on impact, communication and innovation.
Claudio Carta is a Researcher at the National Center for Rare Diseases, Istituto Superiore di Sanità (ISS), working on RD-Connect WP2 led by Domenica Taruscio: “Rare disease databases and patient registries”.
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).
Professor Dawkins leads the Office of Population Health Genomics (OPHG) in the development and management of policies, plans and statewide services to minimise the impact of rare diseases within Western Australia. Dr Dawkins is currently Chair of the National Rare Diseases Coordinating Committee; National Rare Diseases Working Group; and National Neuromuscular Diseases Registry Advisory Group and a member of the Coordinating Board of the endocrine virtual laboratory (endoVL) funded under the National eResearch Collaboration Tools and Resources (NeCTAR). As Director of OPHG, Prof. Dawkins is the nominated Australian contact for Orphanet and for the International Rare Disease Research Consortium (IRDiRC).