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Save the date : Next ITHACA Board Meeting
December 11-12 2020
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Due to the pandemic in Europe and the lack of visibility about the situation in the coming months, the coordination team decided to keep the annual ITHACA Board meeting in a virtual format.
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The planned dates for the meeting do not change (11-12 December 2020), the program will be refined over the weeks, and it will be available in its entirety on the website ern-ithaca.eu.
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On December afternoon 11th, the parallel sessions of each WP will be organised before the plenary session of December 12th, the coordination team remains at your disposal to help each chair to organize a working session with its WP in order to:
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- Assess actions in progress
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- Prepare ITHACA's Proposal for the renewal of the ERN system
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- Prepare action plan for the last two years of the ERN
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For this purpose, please contact our PMs (Anne, Klea and Sarra) to define your topics of discussion, and the definition of the action plan of your WPs for the next two years.
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We remain at the disposal of the WP chairs to organize preparatory meetings on Zoom starting September. We also would like to ask each HCP coordinator to inform us about his representative during the Board meeting. The list of attendees will be needed to organize the plenary session and the satellite meetings of the working groups.
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ERN ITHACA Projects
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Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
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The European Rare Disease Models & Mechanisms Network (RDMM-Europe) was installed within the H2020 project Solve-RD with the aim to link clinicians discovering new genes in patients with rare diseases to basic scientists, who can validate equivalent genes and pathways in model organisms. Solve-RD will provide 50 Seeding Grants (20,000 EUR each) to fund projects that will allow rapid confirmation of potentially disease-causing genes and decipher the underlying molecular disease mechanisms.
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ERN-ITHACA partners can thereby benefit in two aspects from the RDMM-Europe Network. First, as Solve-RD partner you can submit novel genes that you want to have functionally validated and can take full advantage of a collaboration that will be established and supported by Solve-RD funding. Second, if you work with a model system or organism and are experienced with the validation of potentially disease-causing genes you are very welcome to enter your expertise in the RDMM-Europe registry. The Solve-RD management team uses the registry to recruit appropriate research experts for validation from outside the consortium. That means registration will express an interest in linking to clinicians representing patients with rare diseases and collaborating in projects funded by Solve-RD. Registrants who meet the criteria for a given gene or model system will then be invited to apply for a Seeding Grant.
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We warmly thank Dr. Kornelia Ellwanger for her contribution to the this Newsletter concerning the Solve RD section
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Main representatives in the ERN ITHACA board were contacted in June 2020 by the Coordination Office and asked to complete and sign the ERN ITHACA Network Agreement. The Coordination Office would like to warmly thank all our main representatives and their respective administrations for the collaboration and reactivity. The process is nevertheless still on-going, with very few signatures missing (6 out of 37). The Coordination Office will continue to contact the main representatives that have not yet sent their signatures as requested and we ask for your understanding and cooperation to successfully complete this process.
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Work in progress
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Collaboration with Orphanet :
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As a follow-up on our collaboration with Orphanet, you will find below new publications by ITHACA experts on the syndromes listed below:
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WG 8 "Teaching & Training"
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The work group "Teaching & Training" met on June 30th to set up specific education and training programs targeting different population groups. Education and training activities are being organised with the aim to increase and disseminate expertise and knowledge in the ITHACA specific disorders field: (rare IDs, congenital malformations).
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1- Call for exceptional material "Share your best teaching and training resources"
Contributing to the identification of quality "outstanding resources to share" that can be exploited throughout Europe : Please note that we need to receive your Outstanding material by sept 30st*
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- These resources should be of interest to the ERN and be available in English
- New translated resources could be produced for specific outstanding materials
- A selection will be published on our website (Member Area), and on the ECP Platform
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2- Call for Volunteers to review the resource file already available on the ECP platform :
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To start the updating process on the ECP platform documentary database, the coordination team needs support to update this database and to keep only essential documents with added value for the ERN's activities.
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NB : ERN ITHACA has planned to set up a new module for an European Master in Genetics by 2021: "Genetics of human development abnormalities of the face and brain" with Dr. Pablo Lapunzina from the University of Madrid and the "Instituto de Genética Médica y Molecular".
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ITHACA - Solve RD Collaboration : Ultrarare disorders
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WGS project for patients with unique phenotypes not resolved by conventional means :
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Each ITHACA's HCP has the possibility to submit one trio for a WGS for a patient with a very extraordinary, unsolved phenotype (a normal array is necessary, and a negative exome is desirable, but not indispensable if this examination is complicated in routine in your country).
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Before sending your samples, please send a clinical summary to Pr Jill Clayton Smith and Pr Alain Verloes. In the same way, we ask you to save the record of your patient in the CPMS interface: it will then be accounted for in the activity of ITHACA and of your HCP (useful for the half-yearly activity report that we ask you for). Unfortunately, the update and simplification of the CPMS workflow has been delayed: you will therefore be forced to register your patient as a request for an opinion, according to the current procedure.
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ERN ITHACA : Top 5 actions to prioritize for centralized funding
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On June 29th, the European Commission initiated a Brainstorming with the ERN coordinators in order to determine which ERN actions would need financial support as a priority (in the view of the EU4Health programme). Future funding of the ERNs should be stratified in a way to convergently serve the one, main and common objective: Provide equal access of patients affected by rare diseases to early diagnosis and appropriate treatment, regardless of their origin and disease.
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After consultation and discussion with all ERNs, here is the following top 5 ERN-wide activities that are in need of financial support :
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- Central ERN management : Central ERN management has to be extended as at least 5 FTEs are needed for central project management due to the almost doubled number of participating centres within each ERN. Financial support is also needed for the organization of meetings, which is time and money consuming, but a very important part of the networking process between the members of an ERN. This includes the organization of annual meetings, but also executive committee meetings, workgroup meeting and activities with/for patients.
- Implement national structures and local participation of the HCPs : There is a necessity of implementation of national networks. National networks can be official if it exists (e.g. France) or a gathering of all the experts centres that exists within a country within an ERN. These national networks should be fully integrated within each network, for which an integration strategy should be developed to assure implementation of the national network, but also the local participation of the HCPs to the ERNs missions.
- Registries : In general, funding is needed for the implementation and continuation of ERN registries, including financial support for the coordination, management and support team of the registry. To be able to sustain the registries, a central management team including a project manager and data manager is necessary.
- CPMS : The ERNs would like to have the European Commission to support their efforts in customising CPMS. Moreover, a ‘dummy-proof’ version of CPMS is necessary that is much more user friendly. In addition, the ERNs would like to have local (regional) data entry support for CPMS per ERN. This can be organized by appointing local data managers. They are needed for providing administrative support to the centres for generating the administrative data, including entering patients in the CPMS and U-IMD registry and other databases.
- Data-input support / reimbursement for consultation services (fee per patient) :
Care of the patient is one of the priorities for ERNs. Transnational expertise cannot be the only medical consultation, which is not paid. Therefore reimbursement for CPMS consultation and medical time spent should be a priority. This will also lead to more engagement of the HCPs and their experts to use CPMS and engage more in other ERNs and countries.
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Patient Organisation
Reviewing information on Chromosome and Gene Disorders :
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ITHACA is involved in translating information for patient and families produced by the patient organisation UNIQUE Understanding Chromosome and Gene Disorders: www.rarechromo.org
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The Coordination team would like to translate and endorse the translation of this information, in the framework of ERN ITHACA. The materials are originally produced in English and we are currently performing translations to various other European target languages, such as FR, DE, IT, ES, NL, PL, PT, etc.
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Due to the considerable costs of a professional translation, we are currently using the translation tool “DeepL” and these versions cannot be made public without being proofread by a native speaker.
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ERN ITHACA collaborators are fortunately spread around most of the EU Member States and at this stage we would like to launch a call for volunteers to proofread these documents. Thank you in advance for your precious help!
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At the moment we propose : CACNA1C Timothy syndrome, and FOXP2
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Next proposals : PUF60; MEF2C; ANKDR11
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The NoRo Center – a Resource Center for Rare Diseases
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On July 10th, a Teleconference was organised between the ITHACA coordination team and Dorica Dan, Chair of the Patients' Council WG, to discuss a collaborative work with the PC, the WG 4 (Expert Recommendations) and 8 (Teaching & Training) on project proposals for webinars on the Romanian Platform "NoRo online" ; to share knowledges on diagnostic strategies, general care of ID, syndrome. Dorica Dan, suggests to use her centre "case management" services platform for patient in RD" for the webinars.
A zoom platform, integrated to the website, is provided for webinars, training, advice and working groups.
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We are looking for volunteers to help us set up these webinars.
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The NoRo Centre is a resource center providing therapeutic and medical services. Its main objective is to provide integrated social and care services to people affected by rare diseases and their families through improving access to care, information, research, and education. The NoRo Centre regularly organize training for patients; groups of 12-14 patients with the same rare disease participate in one week sessions where they are provided with therapy, education, and rehabilitation.
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It also provides training for people with intellectual disabilities with the aim to teach them independent life skills. Moreover, the Centre is in charge of a day care center that organizes individual and group therapy for around 50 children with NoRo Center is designated as a Center of Expertise in Rare Diseases, is part of the national network RO-NMCA ID, member of ITHACA ERN and of the European Network of Resource Centers for Rare Diseases -RareResourceNet.
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A new direction given by the challenges of the year 2020 is to develop quality services online in the same time with F2F services. For this reason, we initiated an online platform for online consultations, online therapies, online patient groups for therapeutic education and trainings: www.centrulnoro.ro.
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Through collaboration with experts, medical universities and social services at different levels, NoRo Centre is able to bring together new ideas. It also contributed European Joint Action and INNOVCare project in partnership with Eurordis and other EU partners, representing an innovative care pathway that brings together national resource centers for rare diseases. As a one-stop-shop style service, NoRo Center is able to offer a holistic approach.
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Dorica Dan, president of Romanian Prader Association / Romanian National Alliance for Rare Diseases / Romanian Association of Rare Cancers; member of the Board of Eurordis; Coordinator of the NoRo Centre, dorica.dan@eurordis.org
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News from the EC
CEF TELECOM Call 2020
Funding under the CEF Telecom 2019-20 Work Programme
CEF supports trans-European networks and infrastructures which fill the missing links in Europe’s energy, transport and telecommunications sectors. It is a key EU instrument to promote growth, jobs and competitiveness through targeted investment at European level. Projects in the field of telecommunications aim at facilitating cross-border interaction between public administrations, businesses and citizens, by deploying DSIs and broadband networks. Supported projects will contribute to the creation of a European ecosystem of interoperable and interconnected digital services that sustain the Digital Single Market.
CEF Telecom, in its part dedicated to the digital services infrastructure, is designed to deploy this infrastructure across the EU, based on mature technical and organisational solutions to support exchanges and collaboration between citizens, businesses and public authorities. CEF Telecom focuses on providing functioning services which are ready to be deployed and which will be maintained over time, as opposed to developing pilots or technologies.
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CEF Call General Objectives for the ERNs :
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- IT technical support : local helpdesk of the ERNs, especially with the affiliated partners and the new HCP members
- Increase the collection of the data collection monitoring data collection and validation
- Increase eTraining / eLearning activities and centralized IT environment to be provided.
- Funding for the CPMS helpdesk,
- Activities related to the data collection and validation
- eLearning/ eTraining activities
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Each ERN can submit one proposal and any HCP can participate as consortium member
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News from EJP RD
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Next General Assembly and consortium meeting
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The European Joint Programme on Rare Diseases (EJP RD) is glad to announce its second General Assembly and Consortium meeting that will take place from 14 to 18 September 2020. Due to Covid-19, the 2020 GA meeting will be held online.
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The GA meeting will bring together all EJP RD members to have an open discussion on the work done so far and define the new roadmap for the next year.
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Members of all EJP RD beneficiaries are invited to register here to take part at the EJP RD GA meeting and receive all necessary information to connect to the sessions.
This year the GA program is going to be very rich, broad, and tailored to the specific interests of its members.
In particular, dedicated sessions are planned to share the experimental data resources available in the EJP RD as well as the applications of the EJP RD Virtual Platform to show how the consortium can support the work of its stakeholders. A specific session will focus on how to access relevant resources (including pre-clinical and clinical ones) needed for research.
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RD-Connect genome-phenome analysis platform and FAIRifying registries and databases will be introduced to facilitate the acquaintance of the audience to such tools and resources.
A focus on EJP RD funding opportunities with tips to build a successful proposal will give you the opportunity get ready for the upcoming Joint Transnational Call 2021 and other EJP RD funding opportunities.
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Introduction to translational research for clinical and pre-clinical researcher will be given. Regulatory solutions and data protection will be discussed considering the tighten GDPR legislation in research and its various legal interpretations between countries.
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Finally, clinical trials will be the focus of two sessions to introduce novel methodologies improving the design and analysis of RD clinical trials and increase knowledge of the EJP RD Multinational clinical trial support office.
In addition, plenary and parallel Pillar sessions will provide more original inputs that would be used to finalize the new EJP RD roadmap for 2021.
Please, have a look to the full PROGRAM OF THE MEETING (the program will be updated regularly with more information on the content of the sessions, please do not hesitate to come back regularly).
Recorded webinar(s) will be freely available on the EJP RD website and official YouTube channel after the meeting to share good practices, relevant contents, and important support materials with the whole RD community.
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Upcoming Events :
- Virtual Eighth European Course in Clinical Dysmorphology : 2020 October 1-2-3
- EJP RD General Assembly and Consortium meeting : 2020 September 14 to 18
- Next ITHACA Board Meeting : 2020 December 11 - 12
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