Donald Bailey (USA)
PhD, Early Childhood Special Education, University of Washington. Is internationally known as an expert on young children with disabilities. For 27 years, he was on the faculty of the University of North Carolina at Chapel Hill, and, for 14 years, director of the Frank Porter Graham Child Development Institute. Dr. Bailey’s research addresses early identification and early intervention for children with disabilities, as well as family adaptation to disability. For 20 years, his work has focused on children with fragile X syndrome, the leading inherited cause of intellectual impairment, and their families. He has an extensive record of publications, with more than 200 peer-reviewed articles, chapters, and books on a wide variety of topics related to early education, early intervention, disability, and family support. In 2006, Dr. Bailey received the Career Research Scientist Award from the Academy on Mental Retardation. From 2006 to 2009, he served as president of the board of directors of the National Fragile X Foundation (www.fragileX.org). Recently, he was appointed to serve a 4-year term on the DHHS Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.
Jörg Richstein (Alemanha)
Jörg Richstein is the proud father of a son with Fragile X Syndrome, who was diagnosed while his father was a Postdoctoral Fellow in Mathematics at Dalhousie University, Halifax, Canada. After the family‘s return to Europe, Dr. Richstein joined the German Fragile X family association “Interessengemeinschaft Fragiles-X“, serving on the board since 2004. In 2007, he was elected Vice President, and since 2009 he has been leading the association. He is a member of the board of the German Rare Disease Alliance „ACHSE e.V.“, where he was recently elected second Vice President. Dr. Richstein is a member of the Advisory Board of the Centre for Rare Diseases at the University of Tübingen and co-founder of the Fragile X Network at the University Hospital Tübingen. He considers himself honoured to have taken part in the creation of the European Fragile X Network (www.fragilex.eu), chairing the first three meetings of EFXN in the years 2011 and 2012.
His major goal in all his Fragile X related work is to try to change the world in a way that will guarantee people affected by Fragile X Syndrome a good, secure and enjoyable future as full members of our societies. Jörg Richstein and his family live in Giessen and Berlin, Germany.
Cristina Lopez Lopez (Basileia, Suíça)
I currently working as Director in Pharma Development in Novartis in Basel, Switzerland. I joined Novartis in January 2009 as a Translational Medicine Expert, designing, developing and implementing efficient, high value decision-strategies for the Translational Medicine component of drug development projects in liaison with appropriate line functions and leading to clinical Proof of Concept (PoC). I have made many contributions to the early stage portfolio, and leverage external alliances to maximize efficiencies and synergies between academic institutions and industry.
Before joining Novartis, I was at Roche holding a Biomarker and Experimental Medicine Leader position being accountable for biomarker delivery within the Neuroscience disease area employing experimental Medicine approaches to enable the discovery and validation of new biomarkers and pharmacological targets in humans. I ensured optimally informed decision making in drug development and in the effective implementation of targeted and personalized medicine, providing also scientific advice for oncology products.
I received my medical training (MD) at Universidad de Santiago de Compostela (Spain). Parallel to the clinical training provided at the medical school, additional medical training programs abroad were performed in different disciplines (public health projects, thoracic surgery, internal medicine and medical genetics among others). I subsequently had further Post Graduate Fellowships in Neurodegeneration at “Consejo Superior de Investigaciones Cientificas” (CSIC), Spain, with specialized training in radiobiology, functional interrelation between nervous and immune system, excitable membranes physiology (neurons and neuronal circuits) and neuroscience Research Techniques. I obtained my PhD in Neuroscience at Universidad Autónoma de Madrid, work developed in the Neural Plasticity Department of the “Instituto Ramon y Cajal”, Madrid, Spain. Part of my Thesis lead to a patent which was the recipient of a Patent Award (The best patent of the year) from CAM (Madrid Government) in 2007 for the use of growth factors for treatment and prevention of neurodegenerative disorder.
Eduardo Brignani (Espanha)
Assessor científico da Federación Española de Asociaciones del Síndrome X Frágil, psicólogo da Asociación Catalana del Síndrome X Frágil, da Asociación Española del Síndrome Cornelia de Lange, da Asociación Catalana Síndrome de Rett e da Asociación MPS-Fabry España. É ainda professor do Mestrado em Psicopatologia Clínica Infanto-Juvenil na Universidade Autónoma de Barcelona. A sua trajectória profissional tem estado sempre ligada a instituições de pessoas com diferentes tipos de doenças pouco frequentes, desenvolvendo as suas competências na àrea do trabalho com famílias. É autor de grande número de artigos sobre o tema da deficiência e família.