November 28, 2014
The 2nd International Rare Diseases Research Consortium (IRDiRC) Conference took place in Shenzhen, China, on 7-9 November 2014. Co-organized between IRDiRC and BGI, over 600 participants from Asia, Europe, North America and Australasia attended this successful meeting, including academics, researchers, clinicians, industry leaders, policy makers and patient advocates.
Based on the theme of collaboration, inspired by the inaugural IRDiRC-2013 Conference in Dublin, Ireland, this meeting provided the opportunity for Chinese and international stakeholders active in the field of rare disease to forge links. Emphasis was also placed on sharing expertise, information and technology via global networks to improve diagnosis of rare diseases, patient access to best treatment and care, and patient and family support.
Three plenary sessions explored the current state of rare disease research and shared success stories. Three parallel tracks of presentations – reflecting the three scientific committees of IRDiRC: Diagnostics, Interdisciplinary, Therapies – provided outlook on challenges and advances in each of these areas. An additional Educational track, coupled with a Training Course day, imparted knowledge on underlying disease mechanisms, diagnostic evaluations and improved medical care. Simultaneous English-Chinese translation was provided during the conference sessions to facilitate understanding of the materials presented.
This conference provided a wide platform for exchange on expertise and experience. Among the activities taking place during the conference were NGO forums, biotechnology investment forum, and face-to-face meeting opportunities.
Another important facet of this meeting was the contributions from Chinese rare disease patients themselves, whose presence was indicative of the growth of supportive networks and the thirst for information as a form of empowerment to those affected by rare diseases. Their show of courage spurred further determination and renewed promises that rare disease research must be prioritized, patient welfare must not be neglected, and joint efforts from all stakeholders are vital to advance the progress already made thus far.
This meeting was made possible through the generosity and continuous support of BGI China. IRDiRC would like to thank BGI for hosting the IRDiRC-2014 Conference and welcoming all participants to Shenzhen, China.
BGI, founded in 1999, is today the world’s largest genomics center. With affiliated branches in America, Europe and Asia Pacific, BGI has a global academic and business reach, and provides comprehensive high-throughput genomics platform and in-depth bioinformatics services for medical, agricultural and environmental applications. Its multidisciplinary scientific team provides expertise and research experience, and it has published over 600 publications, many in top-tier journals including Nature and Science.
- Welcome address: S is for Science, Sharing and Shenzhen – Huanming Yang, BGI, China
- Welcome address: 2nd IRDiRC Conference – Paul Lasko, IRDiRC and Canadian Institutes of Health Research, Canada
- Rare diseases and the NHS 100,000 Genomes Project – Willem Ouwehand, University of Cambridge and Wellcome Trust Sanger Institute, UK
- Role of the advocacy organization in rare disease research – Sharon Terry, Global Alliance, USA
- Canada’s path forward for rare diseases: Discovery to translation – Kym Boycott, Children’s Hospital Eastern Ontario, Canada
- Supporting genomics in the practice of medicine – Heidi Rehm, Partners Personalized Medicine and Harvard Medical School, USA
- The NIH/NCATS GRDR Program: Collaborative program for the patients by the patients – Yaffa Rubinstein, NIH/NCATS, USA
- An universal platform for rare disease in China: from omics research to patient care – Yong Zhang, BGI, China
- Exome and genome sequencing in clinical practice – Christian Gilissen, Radboud UMC, the Netherlands
- Clinical exome sequencing at Baylor Whole Genome Laboratory: Molecular diagnosis and disease gene discoveries – Yaping Yang, Baylor College of Medicine, USA
- Diagnostics opportunities for rare disease with NGS – Sarah Sawyer, Children’s Hospital Eastern Ontario, Canada
- Prenatal diagnosis of rare genetic diseases: What doctors want from government and industry – Tao (Tony) Duan, Shanghai First Maternity and Infant Hospital, China
- PhenoTips & PhenomeCentral: Deep phenotyping and data sharing for rare disorders – Michael Brudno, University of Toronto, Canada
- Initiatives for data harmonization and sharing across biobanks and cohorts – Weiye Wang, Shanghai Jiao Tong University, China
- European policy in the field of rare disease to improve patient care and boost research – Ségolène Aymé, Inserm/IRDiRC, France
- Patient involvement and ethics in rare disease research – Alastair Kent, Genetic Alliance UK, UK
- Participant involvement: USA – Sharon Terry, Genetic Alliance, USA
- Ethic issues and practical problems in medical genetics – Shangzhi Huang, Peking Union Medical College, China
- Great strides in science… what about access? – Marlene Haffer, Haffner Associates, USA
- Drug repositioning in rare diseases: How to optimize access for patients – Raúl Insa, SOM Biotech, Spain
- Lysogene’s gene therapy in Sanfilippo syndrome – Karen Aiach, Lysogene, France
- Targeting cardiac sodium channel trafficking as therapy for rare inherited cardiac arrhythmias – Qing Wang, Huazhong University of Science and Technology, China
- Clinical and regulatory challenges for drug development in rare diseases – Marlene Haffner, Haffner Associates, USA
- Building the first comprehensive functional catalogue of a mammalian genome – Mark Moore, The International Mouse Phenotyping Consortium, USA
- NeuroNEXT: Challenges and possibilities for exploratory trials in neurological diseases – Elizabeth McNeil, NIH/NINDS, USA
- Origin and the spectrum of rare variants: Lessons learned from Autism and Psoriasis studies – Xin Jin, BGI, China
- Human Genome Project, genomics and its relevance to medicine – Huanming Yang, BGI, China
- Genomic medicine: Current status and future – Zhiyu Peng, BGI, China
- Monogenic diseases – Shangzhi Huang, Peking Union Medical College, China
- Medical cytogenetics – Jin Fan, Zhejiang University School of Medicine, China
- Human biochemical genetics – Shangzhi Huang, Peking Union Medical College, China
- Genetic tests and human variome project – Ming Qi, BGI, China
- Human genetic variations and mutations – Ming Qi, BGI, China
(Section will be updated as more materials are made available)
A session presenting IRDiRC, its organization, its objectives and more was held during the BIO International Convention in Chicago, IL, USA, 22-25 April 2013.
This session was part of a general session called Orphan Disease Forum and included three speakers:
- Luc Dochez, Chief Business Officer, Prosensa, the Netherlands
- Pamela Gavin, Senior Vice President, the National Organization for Rare Disorders, USA
- Lu Wang, Program Director at the National Institutes of Health, USA
The session was chaired by Ruxandra Draghia-Akli, Director of the Health Directorate of the European Commission’s Directorate-General for Research and Innovation.
In her introduction, Ruxandra Draghia-Akli briefly reminded the audience about the purpose of the session. Many of the world’s rare diseases are chronic, progressive, and often life-threatening, but few can be treated effectively, or even diagnosed reliably and early enough for best therapeutic outcomes. The International Rare Diseases Research Consortium (IRDiRC), launched in 2011 by the European Commission and the U.S. National Institutes of Health, unites public and private funders and coordinates research efforts toward an ambitious goal: develop 200 new therapies and means to diagnose most rare diseases by 2020.
Luc Dochez talked about the challenges of diagnosing a rare disease. Among its recent results, Prosensa has identified six compounds for Duchenne Muscular Dystrophy. Rare diseases may take a long time to be diagnosed. For Fabry disease, for instance, it took 16 years. Patients have a key role in research and drug development for rare diseases. At the beginning of its life, Prosensa, a small company of 85 people, could survive thanks to the support of patients.
Pamela Gavin presented the crucial role that patients have and the contribution to IRDiRC. Founded in 1983, NORD has responsibility within the Orphan Disease Act. Today 455 member organisations belong to NORD.
Lu Wang said that a genetic basis is known for only half of all rare diseases. Dr Wang mentioned the Centers for Mendelian Genomics, whose vision is to discover new genes that cause Mendelian conditions. Dr Wang was present at the launch of IRDiRC and stated that joining IRDiRC is an excellent opportunity to share resources and expertise, coordinate, standardise and harmonise.
The first IRDiRC conference was held on April 16-17, 2013 in Dublin, Ireland. It was attended by more than 400 participants coming from Europe, North America, Australia and Asia. During that conference, it was recognized that expertise in rare disease, just as patients, are scattered around the world. It is thus necessary to share all knowledge and competence, and to push the need for more regulatory success for orphan drugs. Collaboration between global rare disease community is the key to success. For more details, please consult the conference report.
PowerPoint presentations of the speakers, organized by sessions, are accessible below.
- Welcome address – Ruxandra Draghia-Akli, European Commission
- Collaborative rare diseases research activities at NIH – Christopher Austin, National Center for Advancing Translational Sciences, NIH, USA
- The haystack is made of needles: a global view of rare diseases – Sharon Terry, Genetic Alliance, USA
- Partnership in rare diseases. To partner or not to partner? – Hans Schikan, Prosensa, The Netherlands
Track 1 – The Depth of Rare Diseases
- Patient-led initiative to identify the molecular cause of rare inherited retinopathies – Avril Daly, EURORDIS, Fighting Blindness, Ireland
- FORGE Canada: a nation-wide effort to identify genes for rare childhood disorders – Kym Boycott, Children’s Hospital of Eastern Ontario, University of Ottawa, Canada
- A large scale initiative to identify the genes underlying rare mendelian conditions – Michael Bamshad, University of Washington School of Medicine and Seattle Children’s Hospital, USA
- Deciphering Developmental Disorders (www.ddduk.org) – a UK wide project to transform the diagnosis of rare childhood disorders – Helen Firth, Cambridge University, UK
- A multi-omics approach for monogenic disease research and application at BGI – Wei Wang, BGI, China
Track 2 – Diagnosis of Rare Diseases
- Quality assurance and guidelines for validation of next-generation sequencing tools – Gert Matthijs, University Hospital Leuven, Belgium
- Coupling sequencing and functional studies to improve outcomes in neonates – Nicholas Katsanis, Duke University Medical Center, USA
- Clinical whole exome sequencing for the evaluation of genetic disorders – Christine Eng, Baylor College of Medicine, USA
- Complexity of NGS approaches in neurological disorders: new role of medical genetics in clinical guiding – Olaf Riess, University of Tübingen, Germany
Track 3 – The Human Phenome
- The need for comprehensive, standardized phenotyping in the era of genome-wide sequencing – Ada Hamosh, Johns Hopkins University School of Medicine, USA
- An ontological foundation for rare disease diagnostics and novel disease-gene discovery – Peter Robinson, Charité – Universitätsmedizin Berlin, Germany
- An ecosystem approach to connecting and collecting rare disease data – Anthony Brookes, University of Leicester, UK
- Translating allelic heterogeneity to clinical practice: the CFTR2 project – Garry Cutting, Johns Hopkins University School of Medicine, USA
Track 1 – Deploying Existing Compounds: Repurposing Strategies
- Repositioning existing drugs for rare diseases – Kevin Lee, Pfizer, UK
- NIH-Industry Pilot Program: discovering new therapeutic uses for existing molecules – Christine Colvis, National Center for Advancing Translational Sciences, NIH, USA
- Designing strategies for therapeuric progress in rare kidney diseases – Franz Schaefer, University of Heidelberg, Germany
- Biomarkers discovery in rare diseases and implications for therapy – Alessandra Ferlini, University of Ferrara, Italy
- Repurposing nitisinone for black bone disease: lessons from the EC-funded DevelopAKUre project – Nick Sireau, AKU Society, Cambridge, UK
Track 2 – Developing Innovative Orphan Therapies
- Hematopoietic stem cell gene therapy for rare diseases: current experience and future perspectives – Luigi Naldini, San Raffaele Telethon Institute, Milan, Italy
- AAV-mediated gene therapy for rare disorders: new possibilities for treatment of genetic disease – Katherine High, University of Pennsylvania, USA
- Antisense-mediated exon skipping: applying lessons learnt from Duchenne muscular dystrophy to other rare diseases – Annemieke Aartsma-Rus, University of Leiden, the Netherlands
- Establishing multicenter international gene therapy trials for blood genetic diseases – Anne Galy, Genethon, France
Track 3 – Regulatory Dialogue to Optimise Orphan Drug Development
- Elements for optimising orphan drug development – industry perspective – Wills Hughes-Wilson, EFPIA-EBE, Belgium
- The EMA policy in fostering orphan development – Jordi Llinares, European Medicines Agency
- The FDA policy in fostering orphan development – Katherine Needleman, U.S. Food and Drug Administration
- Accelerating biotechnology innovation for rare diseases: challenges and solutions – Emil Kakkis, ULTRAGENIX Pharmaceutical Inc Novato, USA
- Canadian policy in fostering orphan drug development – David K. Lee, Health Products and Food Branch, Canada
- Regulatory dialogue to optimise orphan drug development: patients’ experience and perspectives – Yann Le Cam, EURORDIS
Track 1 – Building the Tools
- A mouse for every gene: large-scale mouse model production and phenotyping for functional annotation of the genome for biology and drug discovery – Colin McKerlie, The Hospital for Sick Children, Toronto, Canada
- Animal models in mitochondrial disorders – Massimo Zeviani, Istituto Neurologico “C. Besta”, Milan, Italy & MRC Mitochondrial Biology Unit, Cambridge, UK
- Using pluripotent stem cells to model genetic disease of the heart – Chris Denning, University of Nottingham, UK
- A model structure for advancing rare diseases research – Jeffrey Krischer, University of South Florida College of Medicine, USA
Track 2 – Ensuring the Collaboration
- Rare disease partnerships : a model for a new era of drug development – Cristina Csimma, Cydan Development Inc., USA
- Telethon and Shire: a public-private partnership to translate the results of basic research to therapies for patients – Lucia Monaco, Fondazione Telethon, Italy & Philips Vickers, Shire Human Genetic Therapies, USA
Track 3 – Facing the Challenges
- Delivering on the promise: the clinical application of new diagnoses and treatments for rare diseases – Kate Bushby, Newcastle University, UK
- “Big” Pharma: from data hoarding to data sharing? – Bartha Knoppers, McGill University, Montreal, Canada
- Challenges: the patients’ perspective – Maria Mavris, EURORDIS, France
- Incidental pitfalls with whole genome/exome sequencing (WGS/WES results) – Jack Goldblatt, Genetic Services and the Familial Cancer Programme of Western Australia
Forward Look Session
- International rare diseases research Consortium – Paul Lasko, Institute of Genetics of the Canadian Institutes for Health Research, Canada
- Inherited disorders of neuromuscular transmission – from gene discovery to tailored treatments – Hanns Lochmüller, University of Newcastle upon Tyne, UK
- How a successful gene hunt is saving lives, changing practices and influencing policies – Terry-Lynn Young, Memorial University, St John’s, Newfoundland and Labrador, Canada
- Alternating hemiplegia of childhood: the journey to the gene discovery and effective treatments – Tsveta Schyns, European Network for Research in Alternating Hemiplegia (ENRAH)
- Unravelling the jargon – Lesley Murphy, Rare Voices Australia
- Ten years of translational research in rare progeroid diseases – lessons and perspectives for rare diseases – Nicolas Levy, INSERM Research Centre Marseille, France
- Unexpected genetic architectures underlying rare blood diseases: lessons learned from the BRIDGE project – Chris Van Geet, University of Leuven, Belgium
May 7, 2013
The first IRDiRC conference was held on April 16-17 2013 in the charming city of Dublin, Ireland. Thought leaders from all over the world captured the audience with stimulating, inspirational and highly informative talks on the past, present and future of rare disease research. IRDiRC was unanimously hailed as need of the time to advance the cause of rare disease research. IRDIRC promises to contribute in development of 200 therapies for rare disease and means to diagnose all of them by 2020. Rare disease stakeholders discussed the ways and means to help reach these goals. They provided examples of success stories as well as suggestions of the innovative ways in which stakeholders can come together to fulfill this goal.
This truly international conference was attended by more than 400 participants representing Europe, North America, Australia and Asia. It was recognised by one and all that expertise in rare disease, like the patients, are scattered across the globe. It is thus imperative for the global rare disease community to put their heads together to solve the great big jigsaw of rare disease, of which everyone holds a piece. This meeting boasted of attendance from policy makers, industry leaders, academicians as well as patient organisations from around the world. Representatives from regulatory bodies such as FDA, EMA, the Canadian and Australian regulatory agencies shared their expertise and pushed the need for more regulatory success for orphan drugs. Patient organisations such as Rare Voices Australia, Eurordis and Genetic Alliance US, gave an overview of the current need of patients and how coming together with a common agenda is urgent, but also achievable. Industry partners emphatically expressed the need to work with academicians, patient organisations and regulatory bodies to significantly increase the number and quality of drugs that is accessible to all. The buzz word was collaboration, collaboration, collaboration.
Mirroring the scientific committees of IRDiRC, the conference panels were divided into 3 tracks- therapies, diagnostic and interdisciplinary track-with experts in each area presenting the current outlook and the way forward. The therapies track addressed issues that deal with providing better treatment for patients such as drug repurposing, developing innovative therapies and ensuring an open dialogue with the regulatory bodies so that the treatments developed painstakingly see the light of day. The diagnostic track articulated the current projects that are underway to identify the causes of the rare diseases, the tremendous advancements in Next Generation Sequencing including the use of data generated from it and the crucial understanding of the Human Phenome. The speakers in the Interdisciplinary track highlighted the means by which successful collaborations can lead to successful treatments and diagnostics. They also endeavoured to delineate how future challenges in the extremely complex world of rare disease research can be overcome. Economic and ethical issues such as those that have cropped up due to recent advancements in technology, especially next generation sequencing, were also discussed at length.
Dr Ruxandra Draghia-Akli who is a champion of the rare disease cause and served IRDiRC as its chairperson with impressive results, passed on the baton to Dr. Paul Lasko, a distinguished member in the field of rare disease research. The success of this conference promises a much brighter future for rare disease patients. IRDiRC has 32 members representing research funding bodies. Organisations interested in becoming members of IRDiRC are encouraged to apply.