”MOOC on Diagnosing Rare Diseases: from the Clinic to Research and back

ERN Workshops (30)

In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Epidermolysis bullosa: from genes to translation into therapies” is being organized by Prof. Dr. Cristina Has of the University Hospital Freiburg.

The in-person event will take place on 23-24 March 2023 in CIBSS – Centre for Integrative Biological Signalling Studies in Freiburg, Germany.

Registration is open until December 15th.

Registration and more

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The Statistical Evaluation of Surrogate Endpoints in Clinical Trials

Copie de TRAINING COURSES (3)

As part of the training activities proposed by the EJP RD, a 2h30 training course titled “The Statistical Evaluation of Surrogate Endpoints in Clinical Trials” is being organised.

The fully online event will take place from November 18th.

The aim of the lecture is:

To get an overview of the methodological developments in surrogate endpoint evaluation over the last 30 years To understand practical use To understand promise and limitations To understand how they can be useful in the context of rare diseases

This training is at an advanced level course. While an overview will be given, without all technical [...]

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EJP RD training: Biobanking in rare diseases: the Poland experience

Biobanking in rare diseases the Poland experience

Through the last decade access to modern healthcare has improved significantly. The lack of scientific knowledge about rare diseases (RDs) often results in a delay in diagnosis or availability of effective cures for the patients struggling from rare diseases. There is a need to connect international experts, researchers and clinicians to extend rare diseases knowledge and provide effective treatment that improve the prognosis or life comfort of patients.

Biobanks have an infrastructure that ensures sustainability and expansion of the quality management for the preservation, storage, distribution and analysis of human biological samples. The availability of novel information technologies offers the [...]

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ERN-ITHACA Multidisciplinary Fetal Diagnostics Winter School

ERN Ithaca Winter School

The ERN-ITHACA Multidisciplinary Fetal Diagnostics Winter School will be held in Paris, December 7-8, 2022.

This Winter School aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions.

The course is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine.

The program gathers excellent [...]

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International Conference on Clinical Research Networks for Rare Diseases

International Conference on Clinical Research Networks for Rare Diseases

The International Rare Diseases Research Consortium (IRDiRC) and the European Joint Programme on Rare Diseases (EJP RD) are jointly organizing a two-day conference on clinical research networks (CRNs) for rare diseases, which will take place on December 1 and 2. The objective of this conference is to gather experts from different continents to increase mutual knowledge on CRNs structure, activities and identify pathways to stimulate collaboration and interoperability of these networks.

It is not possible anymore to register for in-person participation, but you can register for the online participation.

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Now available: WP5 Educational Webinar 2 “Practical guide on how to use the Catalogue of services and the IMT”

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In this webinar, Anton Ussi (Operations & Finance Director at EATRIS), Rosan Vegter (Scientific and Education Manager at EATRIS) together with Agustin Arasanz Duque (Senior Innovation Manager at VHIR/EATRIS), provided practical guidance for using two important tools for RD researchers, developed within EU-funded projects: ERICA and EJP RD. This webinar is part of the Educational Webinar Series from ERICA’s WP5 Translation and Innovation. It builds on the introductory webinar “Current research services available for the rare diseases community” that was organized in November 2021 (available on the ERICA website

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IRDiRC Announces The Creation of Regulatory Science Committee to Tackle Regulatory Challenges in Rare Disease Research

IRDiRC Designs (7)

IRDiRC, a global collaborative initiative with the vision to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention, today announced the formation of the Regulatory Science Committee (RSC). The new RSC “brings broad expertise across different stakeholders and geographies allowing for a balanced synergy that will provide insights and guidance into the advancement of IRDiRCs mission” said David A. Pearce, Chair of IRDiRC.

Read the full press release here.

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ERN Research Mobility Fellowship funding opportunity!

research-mobility-fellowship-october-2022

The European Joint Programme on Rare Diseases (EJP RD) is glad to announce that the last round for the Research Mobility Fellowships funding opportunity is now open until November, 13th, 2022. The call aims to support PhD students, postdocs, and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.

The exchange can be carried out (1) within the same ERN (Full Members and Affiliated Partners), (2) between different ERNs (Full Members and Affiliated Partners), or (3) between ERN Full Members / Affiliated Partners and non-ERN institutions.

Either home or host (secondment) institution [...]

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ERN Data Management Strategy Workshop in Heidelberg on the 17th-18th of October 2022

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WP2 ERICA WP2 Data Collection, Integration and Sharing organised a face-to-face workshop on building an ERN Data Management Strategy Workshop in Heidelberg on the 17th-18th of October 2022. This multi-stakeholders workshop focused on developing a strategic and operational ERNs Data Management Strategy.

Session Presentations

The presentations of the workshop sessions are now available. In order to download the presentations a password is required. Please request access via ERICA office.

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Bring Your Own Omics Data workshop (BYOOD) workshop 17th-18th November 2022, Nijmegen, NL

EJP RD Quest

ERNs needs on data analysis (pre-registration)

The Bring Your Own Omics Data workshop (BYOOD) workshop (17th-18th November 2022) is aiming to help ERNs to optimise and integrate their omics data, initiate network analysis, and continue collaborations with the data analysis team.

If you are part of the ERN, please help the EJP RD workshop organising team to further understand what your ERNs needs on data analysis are and complete this pre-registration from by the 2nd of September 2022 through the following link (takes only few minutes!):

https://forms.office.com/r/62EtZpwfV7

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