8 February 2017 – Program of the Day

09:00 – 10:30
Auditorium

Plenary Session 1: Opening Session – IRDiRC History and Achievements
Chair: Lucia Monaco

IRDiRC: Stepping Stones towards Success
Ruxandra Draghia-Akli, DG Research and Innovation, European Commission, Belgium
Francis Collins, National Institutes of Health (NIH), USA

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

Panel Q&A
Ruxandra Draghia-Akli, Paul Lasko, Christopher Austin

10:30 – 11:00
Reception Hall

Coffee break

11:00 – 12:40
Auditorium

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

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 Olauson, Ågrenska Foundation, Sweden

12:40 – 14:00
Reception Hall

Lunch break

14:00 – 15:30
Auditorium

Plenary Session 3: State of Foundational, Diagnostics, Therapeutics Research
Chair: Makoto Suematsu

Cross-Cutting Bottlenecks and Solutions in Rare Diseases Research
Hanns Lochmüller, Newcastle University, UK

International Cooperation to Enable the Diagnosis of Most Rare Genetic Diseases by 2020
Kym Boycott, Children’s Hospital Eastern Ontario, Canada

200 Rare Disease Therapies Scored in 2017 – New Objective: 500 in 2027
Diego Ardigò, Chiesi Farmaceutici S.p.A., Italy
Yann Le Cam, Rare Diseases Europe-EURORDIS, France/Belgium

15:30 – 16:00
Reception Hall

Coffee break

16:00 – 18:00

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

Auditorium

Track 1: Diagnostics Research in 2017
Chair: Kym Boycott

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

Interpretation of the Disease Liability of Genomic Variants in Rare Diseases: Multi-
Disciplinary and International Locus Specific Collaborative Initiatives (CFTR2.org
)
Milan Macek, Charles University, Czech Republic

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

Panel Q&A
With all speakers of the session

Room 106

Track 2: Foundational Research in 2017
Chair: Hanns Lochmüller

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

Panel Q&A
With all speakers of the session

Room 108

Track 3: Therapeutics Research in 2017
Chair: Diego Ardigò

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

Panel Q&A
With all speakers of the session

18:00 – 20:00
Reception Hall

Poster session, cocktail reception

9 February 2017 – Program of the Day

09:00 – 10:40

Parallel Session 2: New Approaches to Rare Diseases

Auditorium

Track 1: New Approaches to Rare Diseases – Diagnostics
Chair: Gareth Baynam

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

Selected abstract

Solving the Lonely Exome: International Connectivity to Enable Discovery
Taila Hartley, CHEO, University of Ottawa, Canada

Selected abstract

Variant Data from Patients with Rare Diseases Semantically Linked and Enriched with Gene and Variant Data from Public Data Sources
Filip Pattyn, ONTOFORCE, Belgium

Room 106

Track 2: New Approaches to Rare Diseases – Foundational
Chair: Daria Julkowska

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

Selected abstract

Status of Rare Diseases Ecosystem in India – Progress and Lessons for Rest of the World
Harsha Rajasimha, Organization for Rare Diseases India and George Mason University, USA

Selected abstract

Boosting Health Care and Life Science Research on Rare Diseases by Creating a Robust
Infrastructure of Independently FAIR Biobanks, Registries, and Molecular Data Resources

Marco Roos, Leiden University Medical Centre, The Netherlands

Room 108

Track 3: New Approaches to Rare Diseases – Therapeutics
Chair: Michela Gabaldo

Translating AAV-Based in vivo Gene Therapies to the Clinic
Federico Mingozzi, Genethon, France

Developing New Therapies for Rare Diseases: Beyond CF
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

Selected abstract

IDeAl Designing a Clinical Trial – a Case Study
Ralf-Dieter Hilgers, Department of Medical Statistics, RWTH University Aachen, Germany

Selected abstract

Translating Natural History into Clinical Trial Design – Lessons from Duchenne Muscular
Dystrophy

Susan Ward, collaborative Trajectory Analysis Group (cTAP), Cambridge, USA

10:40 – 11:10
Reception Hall

Coffee break

11:10 – 12:40

Parallel Session 3: Trends in the Field

Auditorium

Track 1: Trends in Regulatory and Access
Chair: Irene Norstedt

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

Panel Q&A
With all speakers of the session

Room 106

Track 2: Trends in Patient Advocacy
Chair: Katherine Beaverson

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

Panel Q&A
With all speakers of the session

Room 108

Track 3: Trends in Companies
Chair: Sangeeta Jethwa

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

Panel Q&A
With all speakers of the session

12:40 – 14:00
Reception Hall

Lunch break

14:00 – 17:00
Auditorium

Plenary Session 4: Transforming Rare Diseases Research – IRDiRC Goals 2017-2027
Co-Chairs: Christopher Austin and Hugh Dawkins

14:00 – 14:30

IRDiRC Goal-Setting Process, to Date
Christopher Austin, Chair of IRDiRC Consortium Assembly

14:30 – 16:30

Panel Discussion and Selection of IRDiRC Goals for 2017-2027
Moderator: Hugh Dawkins

Panellists: Representatives of IRDiRC Consortium Assembly, Constituent Committees and Scientific Committees

16:30 – 17:00
Reception Hall

Continued discussion over coffee and refreshments

17:00

End of conference