Speakers
ANDELFINGER Gregor
Gregor Andelfinger received his MD from the University of Ulm (Germany) and his pediatric specialty at the University of Geneva. After his pediatric cardiology fellowship, he trained in Cardiovascular Genetics at the Cincinnati Children’s Hospital and Molecular Cardiovascular Biology at the IRCM, Montréal. Since 2006, he has established the first Canadian biobank specifically geared towards […]
ANTONIO Federico
Full professor of Neurology and Director Unit Clinical Neurology and Neurometabolic Diseases, Medical School, University of Siena, Siena, Italy Chairman of the Scientific Committee of the European Academy of Neurology President of Neuromediterraneum Forum Italian delegate at World Federation of Neurology and at European Union of Specialist (Neurology Section) Past-President of Italian Society of Neurology […]
CEDERROTH Helene
President of Wilhelm Foundation and board member of Undiagnosed Diseases Network International. In 90s the vice president of Epilepsy organization in Stockholm and vice president of HSO in Stockholm (an umbrella organization for the 27 most common diseases). Helene is devoted the Undiagnosed Diseases and especially to help children around the world with an Undiagnosed […]
CHRAST Roman
Dr. Roman Chrast received his PhD in 2000 from the University of Geneva, Switzerland where he worked in the laboratory of Dr. S.E. Antonarakis on the molecular characterization of trisomy 21. He did his postdoctoral work at the Salk Institute, California, USA in the laboratory of Dr. G. Lemke, concentrating on the transcriptional characterization of […]
CIRIMINNA Chiara
Chiara is Project Coordinator & External Relations at BLACKSWAN Foundation. Her responsibilities include planning and implementation of the Foundation’s program and management of different initiatives, including the RAREvolution Project that aims at encouraging the recognition of rare diseases as a public health and research priority and advocate for new and more effective international and national […]
CLEVELAND Don W.
Dr. Don Cleveland has made field leading contributions in cancer genetics and neurosciences. He is currently Professor and Chair of the Department of Cellular and Molecular Medicine at the University of California at San Diego, as well as a member of the Ludwig Institute for Cancer Research. He has been elected to the National Academy […]
DAWKINS Hugh
Hugh is the Director of the Office of Population Health Genomics (OPHG), Department of Health Government of Western Australia. Hugh leads the development of policies, plans and the translation of genomics knowledge into health services to minimise the impact of genetic and rare diseases within Western Australia. He provides advice and recommendations on issues relating […]
ESTIVILL Xavier
Xavier Estivill is Senior Investigator and Chair of the Genetics Program in the Experimental Genetics Division of Sidra Medical and Research Centre. He graduated in Medicine, specialised in Haematology, and doctorate in Medicine by the Autonomous University of Barcelona and in Philosophy by the University of London. Between 2002 and 2015 he was Senior Group […]
FERLINI Alessandra
Associate Professor at the University of Ferrara/Italy, born in 1958 in Bologna (I), married, one son. She graduated in medicine and surgery at the University of Bologna in 1983. She specialized in Neurology (1988) and Medical Genetics (1993) at the Universities of Bologna and Ferrara. In 2002 she achieved a PhD in Genetics at the […]
GAHL William
Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. and Ph.D. from the University of Wisconsin. He served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at […]
GARATTINI Silvio
Silvio Garattini was born in Bergamo (Italy) on 12 November 1928. He earned a diploma in Chemistry, then a degree in Medicine and was appointed lecturer in Chemotherapy and Pharmacology. Founder in 1961 and director since then of the Istituto di Ricerche Farmacologiche Mario Negri that now has three locations (Milan, Bergamo and Ranica) and […]GARATTINI Silvio
Silvio Garattini was born in Bergamo (Italy) on 12 November 1928. He earned a diploma in Chemistry, then a degree in Medicine and was appointed lecturer in Chemotherapy and Pharmacology. Founder in 1961 and director since then of the Istituto di Ricerche Farmacologiche Mario Negri that now has three locations (Milan, Bergamo and Ranica) and […]
GATTORNO Marco
Pediatric Rheumatologists, working at “G. Gaslini” Institute for Children in Genoa, Italy. His main scientific interests involve the study of the pathogenic mechanisms of the rheumatic conditions in children and the clinical and pathogenic characterization of the monogenic autoinflammatory diseases. He is author of 185 full-papers on international journals (total IF 1254, H-index 47), of […]
GRAESSNER Holm
Holm Graessner is Executive Director of the Rare Disease Centre, since 2010, at the University and University Hospital Tübingen, Germany. He is Coordinator of the European Reference Network for Rare Neurological Diseases (ERN-RND). Together with Olaf Riess, he coordinates the H2020 Solve-RD project on “Solving the unsolved rare diseases”. He received his PhD “Summa cum […]
GROFT Stephen C.
Assisted in establishing the Office of Orphan Products Development at FDA in 1982, served as the Executive Director of the National Commission on Orphan Diseases from 1987-1989, and served as the Director of NIH’s Office of Rare Diseases Research from 1993-2014 stimulating rare diseases research and developing information for patients, families, health care providers, academic/foundation […]
HETTNE Kristina
Kristina Hettne (1978), PhD, is a senior researcher at the Leiden University Medical Center in Leiden, The Netherlands. She obtained her master in computer science from Skövde University in Sweden in 2003 and shortly thereafter joined the computational toxicology group at AstraZeneca R&D in Mölndal, Sweden as a research scientist. In 2006, she moved to […]
IATROPOULOS Paraskevas
Paraskevas Iatropoulos is working at the Mario Negri Institute (Bergamo, Italy) as senior researcher, since 2008. He graduated in Medicine and Surgery, and then obtained the board certification for the specialization in Medical Genetics at the University of Brescia (Italy). He obtained the PhD title in Life and Biomolecular Sciences at the Open University (UK). […]
JULKOWSKA Daria
Daria Julkowska is a Scientific Coordinator at the French National Research Agency (ANR) where she is responsible for the management of several European and international funding programmes. Among others, since 2010 she is involved in E-Rare, the ERA-Net for Research programmes on rare diseases, where for the first two years she occupied the position of […]
LENTING Peter
Peter Lenting obtained his PhD with honours at the medical faculty of the University of Amsterdam, the Netherlands in 1996. He was appointed associate-professor of haematology at the University Medical Center in Utrecht, the Netherlands in 2000. Between 2007 and 2009, he held a position of Director of Protein Discovery at Crucell Holland (Leiden, the […]
LEVY Nicolas
Professor Nicolas Lévy leads the Department of Medical Genetics and the Inserm UMR_S 910 research lab in Marseille. He is responsible for numerous projects on rare diseases and has a special interest in neuromuscular disorders and premature ageing. As a clinician and researcher engaged primarily in translational medicine in rare diseases, he is also the principal investigator […]
LODISH Harvey F.
Dr. Lodish is a Founding Member of the Whitehead Institute for Biomedical Research and Professor of Biology and Professor of Biological Engineering at the Massachusetts Institute of Technology. He is a Member of the National Academy of Sciences, a Fellow of the American Association for the Advancement of Science, a Fellow of the American Academy […]
MENZEL Olivier
Dr Olivier Menzel graduated (B.Sc.) from the University of Geneva where he obtained a Master of Medical Genetics (M.Sc.) in 2001 and a PhD in 2006 from the University of Lausanne and EPFL at the Swiss Institute for Experimental Cancer Research (ISREC). For seven years he directed the laboratory of pediatric surgery at the University […]
NALDINI Luigi
Luigi Naldini received his M.D. from the University of Torino, Italy in 1983 and his Ph.D. from the University of Rome in 1987, carried out post-doctoral work in the U.S.A. with Yossi Schlessinger (1987-89), was visiting scientist with Inder Verma and Didier Trono at the Salk Institute (1994-96), subsequently had independent appointments at Cell Genesys, […]
NIGRO Vincenzo
Full professor of Medical Genetics at the Department of “Precision Medicine” of the “University “Luigi Vanvitelli” of Naples, Italy ” and Associate Investigator of the Telethon Institute of Genetics and Medicine (TIGEM). Born in Naples July 28, 1960, graduated in Medicine. University Researcher from 1992 to 2000, associate professor from 2000 to 2006 and full […]
PENNINGER Josef
Josef Penninger, MD was formerly a lead researcher at the Amgen Research Institute in Toronto. In 2002 he accepted the appointment as founding director of the newly established Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences in Vienna, Austria. Major achievements include pioneering insights into the molecular basis of osteoporosis and breast […]
PETROVA Tatiana
Tatiana Petrova received her M.Sc in chemistry from Moscow State University and a Ph.D. in biochemistry from the University of Geneva. She did a post-doctoral work at Northwestern University in Chicago, and then moved to a second postdoctoral position at the University of Helsinki, Finland. In 2004 she became a group leader at Molecular Cancer […]
REQUENA Jesús R.
Jesús R. Requena is Associate Professor at the University of Santiago de Compostela, Spain, where he leads a research group focused on prions and prion diseases at the CIMUS Biomedical Research Institute. He obtained his Ph.D. in Biochemistry at the University of Santiago de Compostela, and subsequently carried out postdoctoral research at the University of […]
SANGIORGI Luca
Dr Luca Sangiorgi helds a Medical degree from the University of Bologna, a PhD in Clinical Genetics at “La Sapienza” University of Rome and a Master Degree in Research Promotion and Governance in Hospital Trusts and Local Health Units at the University of Modena and Reggio Emilia. He has been Visiting Scientist at the Molecular […]
SCARPA Maurizio
Director Centre for Rare Diseases Helios Dr. Horst Schmidt Kliniken GmbH Wiesbaden, Germany. Coordinator European Reference Network For Hereditary Metabolic Diseases, MetabERN Chair, ERN Coordinators Group Maurizio Scarpa, MD PhD, paediatrician, is the Director of the Centre for Rare Diseases at the Helios Dr Horst Schmidt Kliniken GmbH in Wiesbaden, Germany. He is Professor of Paediatrics at the Dept. for […]
TARUSCIO Domenica
Domenica Taruscio is the Director of the National Centre for Rare Diseases at the Italian National Institute of Health (Istituto Superiore di Sanità – ISS, Rome, Italy) Director of research on rare diseases at the Italian National Institute of Health She performed her medical degree (Summa cum laude) and specialization in histopathology at Bologna University; […]
VISSERS Lisenka
Lisenka Vissers (1980), PhD, is a principal investigator at the Radboud university medical centre in Nijmegen, the Netherlands. She obtained her medical biology degree from the Radboud University Nijmegen in 2002, and obtained her PhD on molecular karyotyping by microarray-based comparative genomic hybridization in clinical care in 2007. In 2010, she was the first to […]
