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ERN-ITHACA Projects
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ERN-ITHACA Board Meeting 2023 | Save the date!
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Consensus meeting of the Rubinstein-Taybi guideline | Bergen, Norway, September 29-30, 2022
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In 2021 an international consortium on Rubinstein-Taybi Syndrome (RTS) started to write a best practice clinical guideline supported by the ERN-ITHACA.
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The group had their first online meeting in January 2021 and the guideline is nearing its completion.
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Through an event organised by ER-ITHACA and the local support of Haukeland University, the RTS consortium is going to meet face-to-face in order to discuss the guideline recommendations and to strengthen the collaboration around the syndrome.
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8th International Meeting on Rare Disorders of the RAS-MAPK Pathway | Online Meeting, November 10-12, 2022 - Registration open
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- New insights into the genetic basis and molecular pathophysiology of RASopathies
- Genotype phenotype correlations
- Clinical aspects (e.g. cardio-vascular, growth, metabolic, and neurodevelopmental issues)
- Innovative treatment approaches in model systems and clinical use
- Further development of RASopathy guidelines
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The organisers are in the process of compiling the programme. As for the previous meetings the organisers will ask selected experts to present their research, but we will also have some free slots and therefore welcome the submission of abstracts on what you may want to present. Please contact the scientific board (marco.tartaglia@opbg.net, martin.zenker@med.ovgu.de) via email for the submission of your abstract by September 25.
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Registration is possible from now via this FORM.
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For organisational/administrative questions contact Klea Vyshka, Project Manager of ERN ITHACA at klea.vyshka@aphp.fr
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WG Research Online Meeting, September 14
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The WG Research of ERN ITHACA has invited all interested members and collaborators to present a collaborative research project, during the next meeting of the working group. The meeting will take place on September 14, from 14:00 to 16:30, in a virtual setting.
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The programme of the meeting has already been drafted and it offers presentations in all stages of development.
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The registration form and the final programme will shortly be available in the Events page of the ERN ITHACA official website.
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Upcoming events
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- September 13-15: EJPRD General Assembly and Consortium Meeting, Porto, Portugal
- September 14-17: ERN-ITHACA EuroDysmorpho Congress, Barcelona, Spain
- September 21: Cross-ERNs webinar on Down syndrome
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September 22-25: The 6th Romanian Society of Medical Genetics Congress with International Participation. Craiova, Romania, September 22-25
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Participation of ERN ITHACA on the session "Standardisation and organisation of genetic diagnosis in genetic diseases and rare diseases: registries, standards, ERNs"
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- September 29-30: ERN-ITHACA Consensus meeting of the Rubinstein-Taybi guideline, Bergen, Norway
- October 11: ERN-ITHACA Guidelines Workgroup Webinar “how to optimize patient imput"
- October 20-21: ERN-ITHACA spina Bifida Workgroup meeting, Italy, Roma
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November 10-12: ERN-ITHACA 8th International Meeting on Rare Disorders of the RAS-MAPK Pathway, online meeting
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European News
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Launch of a pilot project for the European Health Data Space: towards new opportunities for health research in Europe
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The European Commission has announced its decision to choose the consortium led by
the French Health Data Hub to set up a pilot project for the European Health Data Space.This project will aim to feed the legislative discussions around the draft regulation
proposed by the European Commission on May 3rd on the European Health Data Space.
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The consortium will gather sixteen partners, from ten European countries. Its
objective will be to address the challenges surrounding access to health data throughout
the EU, to open new perspectives to research and innovation.
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EURORDIS Call on the European Commission to introduce a European action plan on rare diseases
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EURORDIS, alongside 57 partner organisations of the European Conference on Rare Diseases and Orphan Products 2022 (ECRD), co-signed a letter to call on the European Commission to take forward the conclusions of the conference for a European Action Plan on Rare Diseases.
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58 organisations - of which the ERN-ITHACA - representing patient organisations, learned societies, ERN coordinating centres, health and research groups and initiatives, and industry umbrella groups – signed up to reiterate the conclusions of the Conference.
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EURORDIS: New publications Guides, Joint Statement & Recommendations for Rare Diseases & Patients
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EURORDIS has also developed a brief guide "Speak Up. Listen Up. Follow-Up" for rare disease patient organisations on how to listen to the community, capture needs and experiences and relay these findings to clinicians, hospital managers and decision-makers
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EJP RD Last Research Mobility Fellowships funding opportunity
The EJP RD is glad to announce that the last round for the Research Mobility Fellowships funding opportunity will open on October, 3rd, 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.
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Either home or host (secondment) institution must be a Full Member or Affiliated Partner of an ERN.
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Successful applicants should acquire new competences and knowledge related to their research on rare diseases, with a defined research plan and demonstrable benefit to the ERN of the home and/or host institution.
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The research mobility fellowships are meant to cover stays of 4 weeks to 6 months duration.
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The ERN Research Training Workshops funding opportunity - now open for applications
The ERN Research Training Workshops funding opportunity is now open for applications until October 1st. The goal of the workshops is to train researchers and clinicians affiliated to ERN in relevant topics on research in rare diseases.
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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 aiming to provide a cross-ERN added value.
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The workshops will be delivered as two-day events. The costs for the workshop organization will be covered up to a limit of €25,000.
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General Assembly and Consortium Meeting | Porto, Portugal, September 13-15 2022
The EJPRD GA meeting is the opportunity to bring back together EJP RD members to meet in-person to update on the progress, the achievements, and extend the roadmap for the next year(s).
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This year, the program will include sessions focusing on trans-pillar activities and “Use case sessions” that aim to highlight how to take advantage of EJP RD services and achievements at various stages of the research pipeline and gather feedback to further improve these results uptake by various stakeholders (researchers, clinicians, patients, etc.).
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Call for collaborative clinical research on developmental disorders
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