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SPEAKERS

Karen Aiach Karen Aiach is founding president and CEO of LYSOGENE a clinical stage biotechnology company specialized in intracerebral gene delivery for the treatment of neurological diseases. In less than five years, Karen brought LYSOGENE’s first product SAF-301 into the clinic. SAF-301 is a gene therapy product aiming at treating a fatal lysosomal storage disease known as […]

Matthias R. Baumgartner (Swiss Showcase) Prof. Dr. med. Matthias R. Baumgartner studied Medicine at the University of Basel, Switzerland, where he earned his degree as a medical doctor in 1992. He then went on to do a postgraduate course in experimental medicine and biology at the University of Zurich followed by laboratory work at the Biocentre of the University of […]

Yann Barrandon Yann Barrandon, MD-PhD, is joint professor in Stem Cell Dynamics at the EPFL and at the Lausanne University (Unil), and head of the Department of Experimental Surgery at the CHUV since 2002. He has made major contributions in basic epithelial stem cell biology and in stem cell therapy. YB is a member of the EMBO […]

Gisèle Bonne Team leader at Research Center for Myology, Institut de Myologie, Université Pierre et Marie Curie, Inserm, CNRS, Paris, France. Gisèle Bonne PhD.  research interest focuses on the analyses of skeletal and cardiac striated muscles in normal and pathologic conditions. She performed PhD thesis (1990-1994) on the human cytochrome C oxidase complex during development and in mitochondrial […]

Giulio Cossu Current Position 2013- :Professor of Regenerative Medicine, University of Manchester. Previous Positions: 2012-2013 :Professor of Human Stem Cell Biology, , University College London. 2009-2011: Director, Division of Regenerative Medicine, San Raffaele Hospital, Milan 2005-2011: Professor of Histology and Embryology, University of Milan 2000-2001: Director, Stem Cell Research Institute, San Raffaele Hospital, Milan. 1994-2005: Professor of […]

Thaddeus (Ted) Dryja Thaddeus (Ted) Dryja earned an MD degree from Yale University School of Medicine (1976) and subsequently did an ophthalmology residency at Harvard Medical School (1978-1981). After fellowships in ophthalmic pathology and in molecular genetics, in 1983 he joined the faculty at Harvard Medical School and the staff at the Massachusetts Eye and Ear Infirmary in […]

Orly Elpeleg Orly Elpeleg is a Professor of Pediatrics at the Hebrew University (1999) and the head of the Department of Genetic and metabolic diseases at Hadassah. She graduated the Medical School in the Hebrew University, Jerusalem in 1981 and completed pediatric residency in 1988. During 1986-7 she was a research fellow in inborn errors of metabolism […]

Davide Gabellini Personal Statement I have extensive background in performing research on epigenetic gene regulation and FSHD. We were the first to made a connection between deletion of the FSHD-associated D4Z4 repeat and transcriptional de-repression of nearby genes (Cell 110: 339, 2002). Next, we generated the only available mouse model of the disease (Nature, 439: 973, 2006). […]

Robert D. Goldman Robert D. Goldman, PhD, is the Stephen Walter Ranson Professor and Chairman of the Department of Cell and Molecular Biology at Northwestern University Feinberg School of Medicine.  He is an authority on the structure and function of the cytoskeletal and nucleoskeletal intermediate filament systems. He and his colleagues have published over 240 scientific articles.  His […]

Philippe Gorry MD-PhD, Associate Prof., past-funding & executive director of the technology transfer office of the University of Bordeaux, has been Vice-Dean for technology transfer at University of Bordeaux Ségalen for 10 years, and is currently the CFO of the university incubator. Trained in medical genetic, his research field was on cancer-prone rare diseases & he was […]

Jeffrey Hubbell (Swiss Showcase) Jeffrey Hubbell, PhD, is Professor of Bioengineering and Chemical Engineering at the Ecole Polytechnique Fédérale de Lausanne (EPFL).  Trained as a chemical engineer, his research activities are in matrix and morphogen engineering for regenerative medicine and biomaterials and protein engineering in immunotherapy, including immunotherapies for induction of antigen-specific tolerance in protein drugs and autoimmunity.  He […]

Stephen C. Groft Stephen is the Director of the Office of Rare Diseases Research (ORDR) in the National Center for Advancing Translational Sciences at the National Institutes of Health (NIH). His major focus is on stimulating research with rare diseases and developing information about rare diseases and conditions for health care providers and the public.  To help identify […]

Thorsten Hornemann (Swiss Showcase) PD Dr. Thorsten Hornemann studied Biology at the University of Konstanz, Germany. He carried out his thesis in the laboratory of Prof. Eppenberger and Prof. Wallimann, researching energy metabolism and muscle physiology. He received his Ph.D. from ETH Zurich, Switzerland in 2000. He then worked as a postdoctoral fellow at the University of Potsdam, Germany, […]

Cecile J.W. Janssens Cecile Janssens is professor of translational epidemiology at the department of Epidemiology at Emory University, Atlanta, USA. Her research concerns the translation of genomics research to applications in clinical and public health practice. Her work focuses on the prediction of multifactorial diseases (e.g. diabetes, cardiovascular disease, asthma) using genetic risk models and on the assessment […]

Nicolas Katsanis Dr. Katsanis obtained his first degree in Genetics from UCL in London in 1993 and his doctorate from Imperial College, University of London in 1997. He then joined the laboratory of Dr. Lupski at Baylor College of Medicine, where he initiated his studies on Bardet-Biedl syndrome. In 2002, he relocated to the Institute of Genetic […]

Yann Le Cam Yann Le Cam, MBA Chief Executive Officer, European Organisation for Rare Diseases – EURORDIS – Rare Diseases Europe Yann Le Cam has dedicated 25 years of professional and personal commitment to health and medical research non-governmental organisations in France, Europe and the United States in the fields of cancer, HIV/AIDS and rare diseases. He was […]

David Lee David Lee leads the Autoimmunity, Transplant and Dermatology Translational Medicine group and is responsible for generating and implementing the global disease area TM strategy to efficiently advance Novartis compounds through Proof of Concept to full Development. David joined Novartis in 2010. He led Translational Research in the Autoimmunity, Transplantation and Inflammation disease area between 2010 and […]

Ephrat Levy-Lahad Prof. Ephrat Levy-Lahad, Israel Director of the Medical Genetics Institute in Shaare Zedek Medical Center, Jerusalem

Dennis Lo Prof. Lo is the Director of the Li Ka Shing Institute of Health Sciences and the Chairman of the Department of Chemical Pathology of The Chinese University of Hong Kong. In 1997, Prof. Lo and his co-workers reported the presence of cell-free fetal DNA in the plasma of pregnant women. Since then, Prof. Lo has […]

Stanislas Lyonnet After training in paediatrics and genetics, Pr. Stanislas Lyonnet became a full Professor of genetics at University Paris Descartes Medical School in 1995. He is a clinical geneticists in the Department of Medical Genetics at Hôpital Necker-Enfants Malades.   As a principal investigator of an INSERM research group (« Genetics and embryology of congenital malformations »), Pr […]

Colin McKerlie Dr. McKerlie (DVM, DVSc, MRCVS) is a Senior Associate Scientist at The Hospital for Sick Children and Professor in the Department of Laboratory Medicine & Pathobiology at the University of Toronto. A Veterinary Pathologist and Phenogenomic Scientist, he is also Director of Research Partnerships at the Toronto Centre for Phenogenomics (TCP) and Staff Scientist with the […]

Samantha Parker Samantha Parker works for Orphan Europe (Recordati Group), a pharmaceutical company dedicated to the development of orphan drugs for rare diseases. Samantha has 15 years’ experience collaborating in rare disease research and public health networks, sometimes referred to as European Reference Networks (ERN): EPNET (porphyria-europe.org), EuroWilson (eurowilson.org), E-IMD (e-imd.org) and E-HOD (e-hod.org). Specific activities in […]

Kay Parkinson Kay Parkinson developed a charity for a very rare condition to the point where the NHS commissioned their services. She is an inspirational figure-who has been instrumental in the development of patient led NHS funded multi-disciplinary clinics for Alström Syndrome. Alström UK has led important initiatives in the field of rare disease in addition to […]

Marc Peschanski Marc Peschanski, Scientific Director I-STEM (INSERM/UEVE 861, AFM), founder and scientific director of I-Stem is a medical doctor in Neurosciences. Entered at INSERM in 1982, he first worked on the neurophysiology and anatomy of pain in Paris and San Francisco. From 1985 his work was oriented towards the study of neuroplasticity and transplantation of foetal neurons, […]

Barbara Plecko (Swiss Showcase) Prof. Dr. med. Barbara Plecko  studied Medicine at the University of Graz, Austria, where she earned her degree as a medical doctor in 1985. She continued her medical training in general medicine and pediatrics at the University Hospital Graz. In 1995, she was appointed senior consultant in Child Neurology and Inborn Errors of Metabolism at the […]

Anne Puel I am an INSERM CR1 senior scientist in the Laboratory of Human Genetics of Infectious Disease (Necker Hospital, Imagine Institute, Paris). I am co-leading the team working on the genetic determinism of bacterial infections in children and leading the team working on the genetic determinism of severe fungal infections in humans. In particular, within the […]

Lakshminarayan Ranganath Professor Lakshminarayan Ranganath is a busy clinician working in the Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital. He obtained a research degree (PhD) from the University of Surrey and was the first to show deficiency of incretin (GLP-1) in obesity, maintaining a continuing interest and continuing to make a contribution to […]

Anita Rauch (Swiss Showcase) Prof. Anita Rauch studied Medicine at the University of Erlangen-Nuremberg, Germany, where she also received her medical specialization for Human Genetics in 2000. In 2009 she was appointed to head and chair the Institute of Medical Genetics of the Medical Faculty of the University of Zurich. Her long-standing research interest systematically addresses the genetics and […]

Janine Reichenbach (Swiss Showcase) Prof. Dr. med. Janine Reichenbach is Co-Head of the Division of Immunology at University Children’s hospital Zurich, and Head of the research laboratory immunodeficiency/gene therapy, University Zurich. She studied medicine at the Universities of Frankfurt (DE), Lyon and Paris (F). She has been trained in pediatrics, pediatric immunology, hematopoietic stem cell transplantation (HSCT) and gene […]

Alexandre Reymond Alexandre Reymond carried out his thesis in the laboratory of Dr. Viesturs Simanis at the Swiss Institute for Experimental Cancer Research (ISREC) and received his Ph.D. from the University of Lausanne in 1993. After completion of his postdoctoral training with Dr Roger Brent in the Department of Molecular Biology, Massachusetts General Hospital and in the […]

Botond Roska (Swiss Showcase) Botond Roska, MD PhD, co-founder (of Gensight), is a senior group leader at the Friedrich Miescher Institute in Basel Switzerland. He was educated at University of California Berkeley, Harvard University and Harvard Medical School as well as at Semmelweis Medical School. His group studies the structure and function of the retina. His group pioneered retina […]

José-Alain Sahel José-Alain Sahel is Professor of Ophthalmology at Pierre and Marie Curie University Medical School, Paris, France and Cumberlege Professor of Biomedical Sciences at the Institute of Ophthalmology, University College London, UK. He chairs a Department of Ophthalmology at the Quinze-Vingts National Ophthalmology Hospital and at the Rothschild Ophthalmology Foundation. He coordinates the Ophthalmology Clinical Investigation […]

Michael Sinnreich Prof. Dr. med. Dr. phil. Michael Sinnreich is head of the Neuromuscular Center in the Departments of Neurology and Biomedicine at the Basel University Hospital, where patients with neuromuscular diseases are treated by an interdisciplinary team. His research lab is located in the Pharmacenter of the University of Basel and focuses on the development of […]

Nicolas Sireau Dr Nicolas Sireau is Chairman and CEO of the AKU Society, a medical charity that works to find a cure for and support patients with AKU, which affects his two sons. AKU (short for Alkaptonuria) is a monogenic disease caused by a missing enzyme, leading to the accumulation of a substance called homogentisic acid at 2,000 times the […]

Colin Stewart Colin Stewart received his D.Phil from the University of Oxford where he studied interactions between teratocarcinomas, the forerunners of ES cells, and early mouse embryos. He was the first to show that mouse chimeras can be produced by aggregation of EC and ES cells with 8-cell stage embryos, a now widely used technique in experimental […]

Marshall Summar Marshall Summar, MD Chief, Genetics and Metabolism Margaret O’Malley Professor of Genetic Medicine Dr. Summar, internationally known for his pioneering work in caring for children diagnosed with rare diseases, including urea cycle and related disorders, joined Children’s National in 2010. Previously, at Vanderbilt University School of Medicine he directed the Program in Translational Genetics, the DNA Core […]

Marc Tardieu Marc Tardieu is Professor of paediatrics (neurology), head of paediatric neurology service, head of research laboratory INSERM unit 1012, Université Paris South, Assistance publique-hôpitaux de Paris, Hôpitaux Universitaires Paris Sud. He has been trained in pediatrics, paediatric neurology, immunology and virology, at Université Paris-Sud, Université Catholique de Louvain and Harvard Medical School, Boston. He has […]

Didier Trono (Swiss Showcase) Born in 1956, Didier Trono obtained his M.D. from the University of Geneva in 1981. After completing a clinical training in pathology, internal medicine and infectious diseases in Geneva and at Massachusetts General Hospital in Boston, he joined in 1986 David Baltimore’s laboratory at the Whitehead Institute for Biomedical Research of MIT as a post-doctoral […]

Alan Tyndall Alan Tyndall was born on 3/8/1948 in Newcastle Australia and achieved his undergraduate medical  degree  at the University of Sydney in 1972. His post graduate qualifications are FRACP, FRCP(Ed), with post graduate experience in Canberra, Sydney and London. In 1991 he was appointed professor and head of the Dept of Rheumatology in the University of Basel, […]

Gisou van der Goot (Swiss Showcase) Gisou van der Goot is full Professor in Life Sciences at the Swiss Institute of Technology in Lausanne. After an engineering training at the Ecole Central in Paris and a PhD from Univ. Paris V, she performed a postdoc at the EMBL in Heidelberg. She started her independent career at the University of Geneva, first […]

Martine Zimmermann Martine Zimmermann is currently Executive Director for Global Regulatory Affairs at Alexion Pharma International. She is based In Lausanne Switzerland. Dr Zimmermann has gained extensive experience in international pharmaceutical industry for more than 18 years in roles at Daiichi Pharmaceuticals R&D center in Tokyo (Japan) where she started her carrier as researcher in immunology, Rhone-Mérieux […]