Speakers
AUSTIN Christopher P.
Christopher Austin is Director of the National Center for Advancing Translational Sciences (NCATS) at the U.S. National Institutes of Health. NCATS’ mission is to catalyze the generation of innovative methods and technologies that will enhance the development, testing and implementation of diagnostics and therapeutics across a wide range of human diseases and conditions. Before becoming […]
BLOOM Bruce
Dr. Bruce Bloom is President and Chief Science Officer of Cures Within Reach, a US based global charity that improves patient quality and length of life by facilitating proof of concept clinical trials testing the repurposing of human approved drugs, devices and nutriceuticals for new indications, especially in rare and neglected diseases. Cures Within Reach’s […]
BRUCKNER-TUDERMAN Leena
Leena Bruckner-Tuderman is professor and chair of the Department of Dermatology at the Medical Center – University of Freiburg, in Freiburg, Germany, and coordinator of the Freiburg Center for Rare Diseases. As a physician-scientist she combines basic and translational research with patient care. She studied medicine in Oulu, Finland, and after an experimental dissertation in […]
BUEREN A. Juan
Juan Bueren is the Head of the Hematopoietic Innovative Therapies Division at the CIEMAT and the Centre for Biomedical Research on Rare Diseases (CIBERER). Since 2004 is also the Coordinator of the Advanced Therapies Unit of the Fundación Jiménez Díaz and CIEMAT. Awards of Appreciation and Distinguished Service Award from the Fanconi Anemia Research Foundation […]
DAINA Erica
Dr. Erica Daina is a senior representative member of the Clinical Research Centre for Rare Diseases (CRCRD) established in 1992 in Italy, as part of the Mario Negri Institute for Pharmacological Research. The Centre mission is to promote independent clinical research, particularly focussed on rare, genetic diseases. It has also developed as a clearinghouse of […]
DOKAL Inderjeet
Professor Inderjeet Dokal graduated in Medicine from the University of Leicester in 1983. He moved to Hammersmith Hospital (London) in 1984 where he received his post graduate clinical and research training. He was appointed Consultant in Paediatric Haematology in 1995 and was conferred the title of Professor of Haematology at Imperial College London in 2003. […]
DOLLFUS Hélène
Hélène Dollfus trained in Strasbourg, Paris and London and is a MD specialized in ophthalmology as well as medical genetics. She is appointed as a professor in medical genetics and as a consultant in medical genetics at the Strasbourg University Hospital (HUS) where she is the head of the medical genetics department. She is the […]
EDVARDSON Simon
Dr. Edvardson is a consultant and researcher at the Hadassah University Hospital of the Hebrew University of Jerusalem. His special interests are the genetic underpinnings of rare inherited neurological disorders. The main focus of his work has been to integrate the novel genetic tools such as Next Generation Sequencing into the routine care of patients […]
ETCHEVERS Heather
Heather Etchevers is a tenured scientist with the Institut National de la Santé et la Recherche Médicale in Marseille, France. She earned a joint Ph.D. with the University of California at Berkeley and Université Pierre et Marie Curie in Paris. Her research group is located at the Université Aix-Marseille, within a department devoted to the diagnosis, […]
GEISSLER Jan
Jan Geissler is working for the European Patients’ Forum in his role as director of the ‘European Patients Academy on Therapeutic Innovation’, a project funded by Innovative Medicines Initiative (IMI). EUPATI develops educational material and training courses to educate patient representatives and the lay public about all processes involved in medicines development. He is also […]
HOEJIMAKERS Jan
Jan Hoeijmakers joined the Dept. of Genetics of the Erasmus University in Rotterdam in 1981 to work on DNA repair. His team succeeded in cloning the first of many subsequent human DNA-repair genes allowing elucidation of the reaction mechanism of nucleotide excision repair, discovered the strong evolutionary conservation of DNA repair, resolved the basis of […]
LE CAM Yann
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 […]
LLERA Virginia
Coordinator of the first multi-centric rare diseases survey granted by the Health-Research Division of the Argentina National Ministry of Health (MSN). Author of several research and awareness articles on rare diseases and orphan drugs, published at Science, ActaPaediatrica, Rare Journal, among others, and including journalist articles. Awarded by different patient institutions including EURORDIS (France, 2007), […]
MACKENZIE Alex
Alex MacKenzie, an attending pediatrician at the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa Canada has served as the CEO and Science Director of the CHEO Research Institute as well as Vice President of Research for both CHEO and Genome Canada in addition to being founding scientist of the AeGera biotech company. Dr. […]
MAIURI Luigi
Prof. Luigi Maiuri, is Research Director of the European Institute for Research in Cystic Fibrosis at the San Raffaele Scientific Institute in Milan since 2007 and Associate Professor of Pediatrics at the University of Eastern Pedmont. Since 2002 to 2007 he was appointed as Honorary Senior Lecturer at the Institute of Child Health and Great […]
MATTHIJS Gert
Gert MATTHIJS is head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics in Leuven, and Professor at the University of Leuven, Belgium. He has been involved in the diagnostics of inherited diseases since 1994. The Center for Human Genetics is the largest genetic department in Belgium. The laboratory is offering molecular […]
MONTOYA Julio
Professor, Department of Biochemistry and Molecular Biology. University of Zaragoza. Member of CIBERER (CIBER for Rare Diseases). Spain. Education and training: Graduation (1973) and Master (1974) in Pharmacy; PhD in Biochemistry (1977). University Complutense of Madrid. Positions and Employment: Teaching Assistant at Dpt Biochemistry. University Complutense. Madrid. Spain (1979) Department of Microbiology. Bristol University, England […]
NAGEL-WOLFRUM Kerstin
Nagel-Wolfrum Kerstin, Dr. phil. nat. is group leader at the Johannes Gutenberg University of Mainz (JGU), Germany. She studied biology at the University of Karlsruhe (TH), Germany, and completed her Diploma thesis in developmental biology and genetics at the Karlsruhe Institute for Technology (KIT). During her PhD conducted at the Georg Speyer Haus, associated with […]
NEERMAN-ARBEZ Marguerite
Marguerite Neerman-Arbez received her Ph.D. in Molecular Biology at the University of Geneva in 1994. It is during her three year post-doctoral training with Professor Stylianos Antonarakis that she became interested in the molecular basis of human bleeding disorders. In 2002 Dr. Neerman-Arbez was awarded a Swiss National Science Foundation Professorship (Career Development Award, 2002-2008). […]
OTTENHEIJM Coen
The unifying theme of Dr. Ottenheijm’s research concerns the regulatory and pathogenic role of myofilament proteins in striated muscle contraction. Dr. Ottenheijm received his doctorate at the dept of Pulmonology at the Radboud University Nijmegen Medical Center in 2006, where he investigated the contribution of myofilament dysfunction to diaphragm weakness in patients with Chronic Obstructive […]
PROKISCH Holger
Holger Prokisch is head of the research group “Genetics of Mitochondrial Disorders” at the Institute of Human Genetic of the Technical University Munich and of the Helmholtz Zentrum München, Germany. He undertook his graduate studies in Germany at the Technical University Hannover. After his postdoctoral training at the Institute for Physiological Chemistry, University of Munich, […]
RIESS Horst Olaf
Prof Riess, MD, is full professor for Medical Genetics, director of the Institute of Medical Genetics and Applied Genomics, and founder and acting director of the Rare Disease Center Tübingen. He has more than 20 years of experience in clinical genetics and research of genetically caused disorders. Main focus on neurodegenerative and syndromal diseases; both […]
SHTIR Corina
Dr. Corina Shtir is Senior Director of Translational Medicine at Thermo Fisher Scientific. She joined the company in 2013, from the Wellcome Trust Diabetes and Inflammatory Lab (DIL) in Cambridge, UK. Her expertise spans many areas, enabling her to take an integrative approach to driving population-scale programs for both rare and complex disorders. Her specialties include […]
STEVANIN Giovanni
Giovanni Stevanin is a neuroscientist and molecular biologist specialized on hereditary movement disorders. After a PhD at the Pité-Salpêtrière Hospital and a postdoctoral training at the Institut de Génétique Biologie Moléculaire et Cellulaire (IGBMC, Strasbourg), he was recruited as associate professor in 2000 and is now research director at INSERM (France) and Professor of Neurogenetics […]
TAGLE Danilo A.
Dr. Danilo Tagle is Associate Director for Special Initiatives at the National Center for Advancing Translational Sciences (NCATS). He leads and provides scientific and programmatic oversight and coordination to the following trans-NIH programs: 1) NIH Microphysiological Systems (a.k.a. tissue chip) program, 2) Extracellular RNA Communication program, and 3) SPARC (Stimulating Peripheral Activity to Relieve Conditions) […]
TARTAGLIA Marco
Dr. Tartaglia is senior scientist, and Head of the Molecular Genetics and Functional Genomics Research Unit and Genetics and Rare Diseases Research Division at the Ospedale Pediatrico Bambino Gesù, Rome, Italy. He is also Adjunct Associate Professor, Department of Pediatrics, at the Icahn School of Medicine at Mount Sinai, New York, NY. For 10 years, […]
VAN DER KNAAP Marjo
Marjo van der Knaap was trained in Adult and Pediatric Neurology. She wrote a PhD thesis on MRI and MRS of myelination and white matter disorders in children and young adults (1991). She is currently professor of Child Neurology, VU University Medical Center, Amsterdam and head of the department of Child Neurology. Since 1987, her […]
