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July/August 2021
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ERN ITHACA Projects
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31st European Dysmorphology Online: 2021 September 23 - 25
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The EuroDysmorpho 2021 programme has been finalised, and the presentations confirmed. The coordination team will communicate the final schedule and connection links to all presenters and spectators between the 3rd and 7th of September.
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We are currently working on the e-book of the submitted abstracts. It will be available right after the meeting.
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As the meeting will finally be held online, the afternoon of September 22 has been cancelled. All presentations will be deployed from September 23 to 25, from 8:45 AM to 7:00 PM (Paris time zone CEST).
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We are looking forward to welcoming you to this 2021 edition of EuroDysmorpho, which promises to be rich in scientific content according to the submitted abstracts.
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The registration form for the meeting is now closed. We thank you for your participation!
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Work in progress
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"BEST OF" ONLINE MEETING of the French Society of Fetal Pathology (SOFFOET) October 15th, 2021
The meeting will be held on October 15th, 2021, from 9:30, am to 5:30 pm (Paris Time). Registration and case submission on fetal or placental pathology or/and attendance is free of charge by registering here.
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Patient Organisation
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New Rare Barometer Project on Diagnosis
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You recently have been invited you to share your experience in obtaining a diagnosis as a rare disease patient or carer and your views on how to improve the journey of rare disease patients to diagnosis by participating in an innovative and live online community taking place the 20 - 24 September. The deadline to register has been extended to the 12th of September.
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This invitation is part of a new Rare Barometer project that aims to identify personal and external factors influencing obtaining a diagnosis for rare disease patients. We want to raise awareness on this topic to bring about change for the rare disease community. Understanding your experience and point of view on this topic is crucial for us.
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- Your participation will consist of 15-20 minutes of activity each day for five days on our online platform, where new questions will be posted, and a moderator will assign new missions every day. You can answer the questions by posting a text answer but also by using multimedia content. The online platform will be facilitated by an independent research institute (OpinionWay Healthcare).
- Please express your interest in participating by the 12th of September. You can pre-register by filling in this pre-registration form. If you accept participating in this project, you will soon be contacted by OpinionWay Healthcare with more information.
- There are limited places available, and that participants will be selected based on the study criteria.
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European News
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Procedure for disease expansion within the ERNs
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We would like to inform our members about the final version of the procedure for disease expansion within the ERNs. The process will take place once a year. Further information on how to proceed and when to send the applications for the expansion will be communicated very soon.
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Solve-RD: 9th call for RDMM Europe connection applications
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The 9th call for Connection Applications within the European Rare Disease Models & Mechanisms (RDMM-Europe) brokerage service is open.
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This brokerage service aims to connect Solve-RD clinicians & scientists with model organism investigators and reward Seeding Grants of 20,000 EUR to model organism investigators to study and validate new disease-causing variants found within Solve-RD.
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SOLVE RD wants to encourage all partners and associated partners who found an interesting new variant within the course of Solve-RD and would like to have this further investigated in a model organism to apply.
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Several applications per ERN for this call are accepted but would restrict the number of applications per working group to a maximum of two.
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For your application, please consider the following:
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- Functional studies in known (published) disease genes are beyond the scope of the RDMM programme.
- GPAP and PhenoStore IDs of the respective patients are mandatory (pheno- and genotypic data must be uploaded to RD-Connect).
- Make sure that you have made every effort to identify additional patients with similar variants in your candidate gene. Single-family cases have been a major point of criticism of the CAC committee in previous Connection Applications.
- Would you mind specifying the type of validation that you want to have performed? The application template has been revised to make this information mandatory.
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News from EJP RD
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Dissemination of Pluripotent stem cells for rare disease research: banking, data, application training
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As part of the training activities proposed by the EJP RD, a 3-day training course titled “Pluripotent stem cells for rare disease research: banking, data, application” is being organised by the Fraunhofer Institute for Biomedical Engineering and Fondazione Telethon.
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The course aims at providing an overview of how human pluripotent stem cells can be used as research tools.
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ITHACA Upcoming Events :
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- September 22-25: EuroDysmorpho E-Workshop
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- September 14-16: Third EJP RD General Assembly and Consortium meeting
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