As part of the EJP RD Training series, an advanced-level training webinar on the topic « Composite endpoints including patient relevant endpoints (Quality of Life) » aimed at introducing the generalized pairwise comparison ideas and concepts as well as demonstrating its benefit in small sample trials, more particularly in including patient relevant endpoints, such as quality of…
In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled « Modelling & Simulation: Research Methodologies for Small Populations in Rare Diseases » aimed at facilitating discussion and exchange of knowledge on the M&S methodologies and strategies as innovative and promising enough for facing complex multifactorial or rare diseases and conditions that require highly specialised treatments and resources is being organised…
In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Functional exploration of genetic variants in cardiac diseases” aimed at presentation of functional explorations of variants of interest identified using Drosophila, C. elegans, Zebrafish and iPSc models to understand the molecular bases of genetic diseases, in particular heart and muscle diseases, is being organised by Philippe Chevalier of the Hospices Civils de…
A funded networking event « International Vasculitis Patient Conference » is being organised as a satellite hybrid event to the 20th International ANCA Vasculitis Workshop 2022. This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the sixth round of funding in September 2021. The hybrid event will take place over two days from…
In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled « Comprehensive gene profiling, molecular tumor board (MTB) and artificial intelligence in the diagnosis and treatment of patients with rare adult cancers » aimed at increasing physicians’ awareness on the possibilities of comprehensive genomic profiling in gene-guided planning of modern cancer treatment and addressing multidisciplinary aspects between specialists who are working…
The third run of the MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” co-developed by the European Joint Programme on Rare Diseases, ERN Ithaca, ERN Genturis and the Foundation for Rare Diseases will start on April 18th. Registrations are free and open at this link. We specifically encourage medical and biomedical science students…
The ERN Research Training Workshops funding opportunity is now open for applications until April 25th. The goal of the workshops is to train researchers and clinicians affiliated to ERN- Full Members or – Affiliated Partners in relevant topics on research in rare diseases. Training themes may include innovative research methodologies, diagnostic research topics, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Moreover, the workshops will be…
Drug development programmes in rare diseases have many challenges, some of which differ from those facing researchers working on common diseases, like the lack of clinical research experts and the scarcity of patients. Moreover, academic sponsors and investigators end up getting involved not only in the scientific aspects of the research but also having to…
In the context of EJP RD’s ERN Workshops, a face-to-face training course on “Ectodermal dysplasias: Training course and update” aimed at informing and training participants in basic and practical aspects on Ectodermal Dysplasias (ED) and Incontinentia Pigmenti (IP) with specific focus on recent research update research and innovative care is being organised by Smail Hadj-Rabia of ERN-Skin, Department of Dermatology, Necker-Enfants Malades…
In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “From high throughput sequencing to diagnosis in immune mediated disorders” aimed at educating young researchers and clinician on which techniques and functional tests are available and appropriate to solve challenging clinical cases in the field of immune mediated disorders and inborn errors of immunity (IEI) is being organised by the…