An N-of-1 trial is defined as a prospective, multiple crossover trial in a single patient. If randomization of the treatment sequence and replication across patients is included in the trial design, then it results in “replicated N-of-1 RCTs”. In the webinar, we will demonstrate one approach to the statistical analysis of data collected in N-of-1 RCTs based on the randomization of the…
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The Solve-RD consortium and associated European Solve-RD network, including among others six European Reference Networks, EURORDIS, Orphanet and leading European Rare Disease Clinicians and Researchers in 20 countries, call upon all European RD stakeholders, including EU Member States, the European Commission, the Council of the European Union, the general public and private organisations active in…
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This year the annual conference of the International Mouse Phenotyping Consortium (IMPC) will be held at Keble College, Oxford, UK from the 10-11 July. The conference is entitled: The Power of Mouse Genetics: Opportunities for Genomic and Precision Medicine. It features an outstanding list of distinguished speakers at the forefront of mouse and human genetics who will…
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EURORDIS-Rare Diseases Europe has announced the call for volunteers to join our Digital and Data Advisory Group (DAG). The group provides advice to EURORDIS on all aspects of digital health policies and procedures, with the mission of recognising and acting upon opportunities for people living with rare diseases. The organisation is looking for three dedicated…
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To always challenge and improve the relevance and quality of our training, the EURORDIS Open Academy has launched a survey open to patient advocates and researchers to learn more about their needs, such as their reasons for engaging in training, main topics of interest, and roadblocks that would prevent them from attending a training event.…
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The 5th International Training Course on « Quality Assurance, Variant Interpretation, and Data Management in the NGS Diagnostics Era » is set to be held in Warsaw, Poland, from 18th to 20th October 2023. This course welcomes participants from the international research community, including clinicians, medical specialists, laboratory scientists (EBMG registered), junior laboratory scientists, clinical geneticists, policy…
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We are thrilled to announce a new session of the online course « Diagnosing rare diseases: from the clinic to research and back« , which will be offered for free! Participants will learn about diagnostic research progress, types of genetic tests for rare diseases, and the impact of having or lacking a diagnosis on patients’ lives over…
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Under Horizon Europe, the European Commission together with member states and associated countries decided to implement the Rare Diseases Partnership which brings a unique vision that aims at leaving no one behind by supporting robust patient need-led research, by utilising and maximising the power of health and research data, by engaging and coordinating regional, national,…
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IRDiRC’s Diagnostic Scientific Committee (DSC) plays a critical role in identifying and addressing current and future bottlenecks to rare disease gene discovery and diagnosis. As we work towards improving rare disease diagnosis globally, the DSC is currently seeking to expand its membership by welcoming a rare disease diagnostic expert from Africa or Latin America and a…
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This year’s World Duchenne Awareness Day (WDAD) theme is Duchenne: Breaking Barriers. WDAD supports creating a society that provides equal opportunities for all. This year is the 10th edition! People living with Duchenne and Becker muscular dystrophy (DMD/BMD) face physical, healthcare and social barriers. This severely limits their ability to participate fully in community life and activities. …
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