The International Rare Diseases Research Consortium (IRDiRC) releases today the current state of play of research in the field of rare diseases . The IRDiRC’s report “State of Play of Research in the Field of Rare Diseases: 2015-2018” is a compilation of information published in scientific journals and press releases over the period of September 2015 to June 2018. The report aims to inform stakeholders at large of developments in the field of rare diseases and support decisions of policy makers and research funders, as well as to inform the rare diseases community of the achievements and observed trends which shape the future of research and development for rare diseases.
The Diagnostic Scientific Committee (DSC) is establishing a Task Force on to address barriers to the diagnosis of rare diseases for Indigenous peoples, so as to help address critical areas that will need to be served if IRDiRC Goal 1 is to be met. The Indigenous Population Task Force will bring together the community addressing this challenge to identify priority areas and share best practices regarding current and future approaches in need of development to support improved, more equitable and culturally secure rare diseases diagnosis for Indigenous populations. This includes, but is not limited to those living in rural and remote areas.
Therefore, the DSC is specifically looking for members to populate this Task Force. Please see here for the full description of the experts profiles and the application procedure.
“We call for a global moratorium on all clinical uses of human germline editing — that is, changing heritable DNA (in sperm, eggs or embryos) to make genetically modified children”.
With this opening sentence in a commentary published this week on Nature, Eric Lander and a group of eminent scientists and bioethicists request an international governance framework to address this challenging theme.
IRDiRC fully endorses their call. Sharon Terry, who represents Genetic Alliance in IRDiRC, has co-authored the commentary.
The new technologies of genome editing bear the potential to correct the genetic defects at the root of many human diseases in somatic cells with unprecedented precision and ease; nonetheless, extending application of these tools to the human germline is fraught with serious concerns that cannot be addressed by the scientific community alone.
The proposed moratorium does not intend to ban research to make therapeutic application of genome editing safe and effective, but calls for a five-year time to build an international network allowing the scientific community and national decision makers to address the medical, social and ethical implications of germline genome editing.
IRDiRC strongly supports the proposal by Lander and colleagues, while encouraging continued research to bring genome editing techniques to the safety and efficacy levels required to transform such potential into effective therapies for rare diseases.
Disclaimer: This statement expresses the outlook of the IRDiRC community and does not necessarily represent the official endorsement by individual IRDiRC member organizations. For more information on contents provided on this website see also IRDiRC Disclaimer.
The International Rare Diseases Research Consortium support Rare Disease Day 2019! The recent elected Chair and Vice Chair of IRDiRC, Dr Lucia Monaco and Dr David Pearce, and the accompanying Scientific Secretariat raise their hands for the cause during a meeting at the Italian Telethon Foundation dedicated to set the consortium strategy for achieving its goals for rare diseases. To find out information about the thousands of events happening around the world on this Rare Disease Day, follow the https://www.rarediseaseday.org link.
The Toolkit for Patient-Focused Therapy Development was developed in close collaboration between the rare diseases patient advocacy community and the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research. It is a centralized portal of the “how-to” resources and tools that patient support organizations can use to advance translation for their diseases, from discovery through clinical trials, to regulatory and industry interactions, to post-approval access issues. It guides patients and patient organizations by giving them the means to engage in research, drug development and post-approval issues themselves. While the resources are primarily focused on rare diseases, the tools are useful for all diseases. This US web based resource provides a user-friendly portal gathering information and important tools to ensure that patients are engaged as essential partners from beginning to end of the research and development process.
The Genome-Phenome Analysis Platform was developed by the RD-Connect, an EU-funded infrastructure for rare disease data. It is an online tool for diagnosis and gene discovery in rare diseases research. This free-of-charge tool is even accessible for users without bioinformatics background, allowing authorized users to analyze Next-Generation Sequencing (NGS) data and share them with other researchers. An important feature of the Genome-Phenome Analysis Platform is the enabling of the identification of disease-causing mutations in rare disease patients and to link those with phenotypic data of the patients. The platform provides an useful resource to analyse genomic and clinical data. This is particularly valuable for researcher and diagnostic groups that do not have in-house bioinformatics pipelines or able to develop these. Furthermore, data can be processed with multiple file formats allowing for a user-friendly interaction.