The 3rd International Rare Diseases Research Consortium (IRDiRC) Conference took place in Paris, France, on February 8-9, 2017. Around 300 participants from around the globe, including academics, researchers, industry leaders, policy makers and patient advocates, attended the meeting to help shape the future of rare diseases research.

The conference provided a unique opportunity for stakeholders active in the field of rare diseases research to reflect on the progress made in the last decade, particularly since the launch of IRDiRC in 2011, and to look forward to the challenges ahead. For more details, the conference report will soon be available here.

You can also access the conference book with abstracts.

PowerPoint presentations of the speakers, organized by sessions, are accessible below.

Plenary Session 1: Opening Session – IRDiRC History and Achievements

• IRDiRC: Stepping Stones towards Success –Ruxandra Draghia-Akli, DG Research and Innovation, European Commission, Belgium
• IRDiRC: A Review of its Achievements in its First Six Years – Paul Lasko, McGill University, Canada
• IRDiRC: Current State and Future Prospects – Christopher Austin, National Center for Advancing Translational Sciences (NCATS), USA

Plenary Session 2: Rare Diseases Research in 2017 – A Global View

• AMED Challenges Data Sharing for Undiagnosed Patients – Makoto Suematsu, Japan Agency for Medical Research and Development (AMED), Japan
• A European Rare Disease Overview – Irene Norstedt, DG Research and Innovation, European Commission, Belgium & Caroline Hager, DG Health and Food Safety, European Commission, Belgium
• Office of Rare Diseases Research: Perspective on North American Rare Diseases Research – Petra Kaufmann, National Center for Advancing Translational Sciences (NCATS), USA
• From Research Translation to Transformation in a Public Health System – Hugh Dawkins, Western Australia Department of Health, Australia
• UN NGO Committee for Rare Diseases (CfRD) – Anders Olausen, Agrenska Foundation, Sweden

Plenary Session 3: State of Foundational, Diagnostics, Therapeutics Research

• Cross-cutting Bottlenecks and Solutions in Rare Diseases Research – Hanns Lochmuller, Newcastle University, UK
• International Cooperation to Enable Diagnosis of Most Rare Diseases by 2020 – Kym Boycott, Children’s Hospital Eastern Ontario, Canada
• 200 Rare Disease Therapies Scored in 2017 – New Objective: 500 in 2027 – Diego Ardigo, Chiesi Farmaceutici S.p.A., Italy & Yann Le Cam, Rare Diseases Europe-EURORDIS, France/Belgium

Parallel Session 1: Diagnostics, Foundational and Therapeutics Research in 2017

Track 1 – Diagnostics Research in 2017

• Mendelian Disease and the Centers for Mendelian Genomics: Progress, Challenges and Opportunities – David Valle, Johns Hopkins University School of Medicine, USA
• The Matchmaker Exchange, a Global Effort to Identify Novel Disease Genes – Ada Hamosh, Johns Hopkins University School of Medicine, USA
• Undiagnosed Disease Programs and Networks – Gareth Baynam, University of Western Australia, Australia
• Enabling Neonatal Precision Medicine by Rapid Genome Sequencing – Stephen Kingsmore, Rady Children’s San Diego, USA

Track 2 – Foundational Research in 2017

• How to Promote Data Sharing in Rare Disease while Protecting Privacy – Mats Hansson, Uppsala University, Sweden
• The Impactt Study: Experiences from Performing a Clinical Multicenter Study in Collaboration with CF Patient Organizations – Anders Larsson, Uppsala University, Sweden
• Global Phenotypic Data Sharing Standards to Maximize Diagnostics and Mechanism Discovery – Melissa Haendel, Monarch Initiative and Oregon Health & Science University, USA
• Precision Medicine in Rare Diseases Across Continents and Disciplines – Matthias Kretzler, NEPTUNE, EuRenOmics and University of Michigan, USA
• European Perspective on Sharing – Omics Data for Personalized Medicine in Rare Diseases – Ivo Gut, Centro Nacional de Análisis Genómico (CNAG), Spain

Track 3 – Therapeutics Research in 2017

• Ex-Vivo Stem Cell Gene Therapy: Approved Treatment for ADA-SCID – Claudio Bordignon, MolMed S.p.A., Italy
• Approval of a Stem Cell Therapy for Corneal Disease, Holoclar® – Graziella Pellegrini, University of Modena and Reggio Emilia, Italy
• Gene Therapy for Neurological Disorders: A Promising Novel Treatment for AADC Deficiency – Jodi Cook, Agilis Biotherapeutics LLC, USA
• Development of Therapy for GNE Myopathy – Ichizo Nishino, National Center of Neurology and Psychiatry, Japan
• Patient Engagement in Therapeutics Development – Sangeeta Jethwa, Roche Innovation Centre, Switzerland

Parallel Session 2: New Approaches to Rare Diseases

Track 1 – New Approaches to Rare Diseases – Diagnostics

• Identification of Two New Disease Entities Through the Undiagnosed Disease Program at our Institution – Toshiki Takenouchi, Keio University, Japan
• High Throughput Screening Toward Precision Medicine in Congenital Myastenic Syndromes – Sophie Nicole, Université Pierre et Marie Curie, France
• More than Meets the Eye: Solving an Evolutionary Riddle Using Rare Disease – Robert Hufnagel, National Eye Institute (NEI), USA
• Development of Therapeutic Strategies for Patients with Allan-Herndon-Dudley Syndrome – Edward Visser, Erasmus Medical Center, The Netherlands

Track 2– New Approaches to Rare Diseases – Foundational

• Leveraging Standing Human Variation to Improve Missense Variant Interpretation – Slavé Petrovski, University of Melbourne, Australia
• Eugene Devic European Network (EDEN): Establishment and Use of an European Database and Biobanks for Research and Treatment in Neuromyelitis Optica – Romain Marignier, CHU de Lyon, France
• From Genetics to Therapeutics in Prion Disease – Sonia Vallabh & Eric Minikel, Broad Institute, USA
• A Novel Subtype of Congenital Scoliosis: TBX6-Associated Congenital Scoliosis – Nan Wu, Peking Union Medical College Hospital, China

Track 3– New Approaches to Rare Diseases – Therapeutics

• Translating AAV-Based in vivo Gene Therapies to the Clinic – Federico Mingozzi, Genethon, France
• Developing New Therapies for Rare Diseases: Beyond Cystic Fibrosis – Stuart Hughes, Vertex Pharmaceuticals Inc., UK
• Developing Therapies for Inborn Errors of Metabolism – Marc Martinell, Minoryx Therapeutics, Spain
• Disrupting Discovery Efficiency: Combining the Best of Biology, Automation and Artificial Intelligence to Identify 100 Rare Disease Treatments in 10 years – Christopher Gibson, Recursion Pharmaceuticals Inc., USA

Parallel Session 3: Trends in the Field

Track 1 – Trends in Regulatory and Access

• Regulatory Trends Including Expanded Access – Jonathan Goldsmith, US Food and Drug Administration (FDA), USA
• Regulatory/Scientific Support for Rare Disease Product Development in Japan – Orphan Product Designation System – Hideyuki Kondo, Pharmaceuticals and Medical Devices Agency (PMDA), Japan
• Challenges in Reimbursing Orphan Medicinal Products: Evaluating Benefit, Determining a Fair Price and Optimizing Access – Anna Bucsics, University of Vienna and MoCA, Austria
• Managed Access for Ultra Orphan Drugs in England – Edmund Jessop, National Health Service (NHS) England, UK

Track 2 – Trends in Patient Advocacy

• Perspective on Patient Engagement in Research, Product Life Cycle and Healthcare in Europe – Yann Le Cam, Rare Diseases Europe-EURORDIS, France/Belgium
• The Algorithm for Precision Medicine – Matt Might, University of Utah, USA
• Recent Japanese NANBYO Situation – How Japanese Patient Groups Contribute to Further the Research Field – Yukiko Nishimura, ASrid, Japan
• Management of Patients with Rare Diseases in African Context: The Contribution of Fitima – Hawa Dramé, Fitima Foundation, Burkina Faso

Track 3 – Trends in Companies

• Current Status and Future Trends in Orphan Diseases: A Company Perspective – Carlo Incerti, Sanofi Genzyme, USA
• The DNA of Successful Rare Disease Biotechs – Kiran Reddy, Clarus Ventures, USA
• The Economics of Rare Diseases from the Venture Capital Perspective – Alain Huriez, Advent Life Sciences, France
• Trends in Orphan Development: What can be Extracted from a Regulator’s Database – Kristina Larsson, European Medicines Agency (EMA), UK