Friday, February 19, 2016

Registration opens
8.45 - 9.00 Welcome address
9.00 - 11.10
Inborn disorders of the immune system (Chair: Elisabeth Förster-Waldl, Medical University of Vienna, Austria)
9.00 - 9.35 Dan Kastner, National Institutes of Health, Bethesda, USA
  Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed
9.35 - 10.10      
Steven M. Holland, National Institutes of Health, Bethesda, USA
  GATA2 Deficiency: Beyond the Blind Men and the Elephant
10.10 - 10.45
Alain Fischer, Institute Imagine, Paris, France
  Lessions from T-cell Immunodeficiencies: from Gene Discovery to Gene Therapy
 10.45 - 11.10 Kaan Boztug, CeMM Research Center for Molecular Medicine/Medical University of Vienna,Vienna, Austria
  Identification of Novel Combined Immunodeficiencies and Molecular Treatment Options
11.10 - 11.30 Coffee break
11.30 - 13.10 Data analysis and collaborative research for rare diseases (Chair and Indroduction: Christoph Bock, CeMM/Medical University of Vienna, Austria)
11.40 - 12.10 Michael Brudno, University of Toronto, Toronto, Canada
  PhenoTips and PhenomeCentral: an Integrated Framework for Rare Disease Data Capture and Data Sharing
12.10 - 12.40 Anthony J. Brookes, University of Leicester, Leicester, UK
  Discovering Data Discovery
12.40 - 13.10 Ada Hamosh, Johns Hopkins Hospital, Baltimore, USA
  Progress Report on the Centers for Mendelian Genomics: Successes, Challenges, and Tools You Can Use
13.10 - 14.00 Lunch break
14.00 - 16.30 Rare dermatological disorders (Chair: Johann Bauer, Paracelsus University Salzburg, Austria)
14.00 - 14.30 John McGrath, King’s College London, London, UK
  Inherited Skin Diseases: Discovery and Recovery
14.30 - 15.00 Matthias Schmuth, Medical University Innsbruck, Innsbruck, Austria
  Disorders of Cornification: Clinics-Genetics-Pathogenesis
15.00 - 15.30
Johann Bauer, Paracelsus Medical University, Salzburg, Austria
  Novel Therapeutic Approaches in Epidermolysis Bullosa
15.30 - 15.50 Robert Loewe, Medical University of Vienna, Vienna, Austria
  Lessons from Orphan Skin Cancer: Genes, Pathways, and Molecular Treatment
15.50 - 16.10 Peter Maximilian Heil, Medical University of Vienna, Vienna, Austria
  Expecting the Unusual - Autoinflammation in Dermatology
16.10 - 16.30 Coffee break
16.30 - 17.30 Keynote lecture: William Gahl, Director of the NIH UDP Program, Bethesda, USA
  Diagnosis and Discovery in the NIH Undiagnosed Diseases Program and the Undiagnosed Diseases Network International
17.30 - 20.00 Poster session & Get together



Saturday, February 20, 2016

9.00 - 10.30 Rare disorders of the nervous system (Chair: Gaia Novarino, IST Klosterneuburg, Austria)
9.00 - 9.30 Javier Martinez, Institute of Molecular Biotechnology, Vienna, Austria
  Dissecting tRNA Splicing in Rare Neurological Diseases
9.30 - 10.00 Dimitri Krainc, Northwestern University, Chicago, USA
  Rare Genetic Disorders Provide Clues to Common Neurodegenerative Diseases
10.00 - 10.30 Jürgen Knoblich, Institute of Molecular Biotechnology, Vienna, Austria
  Modelling Brain Development and Disease in Human 3D Organoid Culture
10.30 - 10.50 Coffee break
10.50 - 12.20 Gastroenterology and metabolic disorders (Chair: Michael Trauner, Medical University of Vienna, Austria)
10.50 - 11.20 Wolfgang Sperl, Medical University Salzburg, Austria
  Mitochondrial Diseases: from Function to Gene, from Gene to Function
11.20 - 11.50 Holm Uhlig, University of Oxford, Oxford, UK
  The Expanding Spectrum of Monogenic Forms of Inflammatory Bowel Disease
11.50 - 12.20 Kevin Strauss, Clinic for Special Children, Strasburg, USA
  Clinic for Special Children: Exploring New Frontiers in the Treatment of Rare Genetic and Metabolic Disorders
12.20 - 12.50 Best abstract awards with short presentations
12.50 - 13.40 Lunch break
13.40 - 15.40 From bench to bed - Therapeutic approaches for rare diseases and personalized medicine (Chair: Kaan Boztug, CeMM/Medical University of Vienna, Austria)
13.40 - 14.10 Martin Andrews, GlaxoSmithKline, UK
  Meeting the Challenge of Rare Diseases
14.10 - 14.40 Luigi Naldini, The San Rafaele Telethon Institute for Gene Therapy TIGET, Milan, Italy
  Genetic Engineering of Hematopoiesis to Treat Inherited Diseases and Cancer
14.40 - 15.10 Giulio Superti-Furga, CeMM Research Center for Molecular Medicine/Medical University of Vienna,Vienna, Austria
  Rare diseases: Finding the Right Drug for the Right Patient
15.10 - 15.40 Claudia Gonzaga-Jauregui, Regeneron, USA
  Rare Diseases Research in Pharma: From Gene Discovery to Therapy
15.40 - 16.00 Coffee break
16.00 - 18.40
Shaping society for the rare disease challenge (Chair: Susanne Greber-Platzer, Medical University of Vienna, Austria)
16.00 - 16.30 Andrea Superti-Furga, Lausanne University Hospital (CHUV), Lausanne, Switzerland
  All Different, All Equal? Reflections on the Implementation of Genetic Medicine
16.30 - 17.00 Annette Grüters-Kieslich, Charité,Charité, Berlin, Germany
  Development of Centers for Rare Diseases in Germany
17.00 -  17.30 Rainer Riedl, Pro Rare, Salzburg, Austria
  What Patients with Rare Diseases Expect from the Health Care System
17.30 - 18.00 Barbara Prainsack, Kings College London, UK
  New Paradigms in Biomedical Research: Can "Relational Autonomy" Help with the Rare Disease Challenge?
18.00 - 18.30 Paul Lasko, International Rare Diseases Research Consortium IRDiRC, Montréal, Canada
  IRDiRC: Fostering International Collaboration in Rare Disease Research
Closing remarks