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February 2021
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ERN ITHACA Projects
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ERNs Monitoring Data Exercice Open
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The data collection exercise (January-December 2020) is now officialy open. We want to thank you again for the commitment you showed to this recurrent exercise, even during the extremely busy times you had and are still having with the COVID crisis. Having a reliable data collection is extremely important – it is one of the elements that will be taken into account in the coming assessment of the whole ERN project.
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As The data collection form is basically the same as the one used before. The major difference for this collection is the inclusion of certain indicators for Affiliated Partners (ANCs + HUBs)..
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All ITHACA HCPs' coordinators, as well as our affiliated partners/HUBs main representatives, have already received an email sent by the coordination team on February 23th, explaining the ITHACA procedure for data collection. On this occasion, we have made the form access available to the Heads of departments allowing them to complete the exercise,
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If you are a full member HCP main representative/coordinator or an ITHACA affiliated partner centre or HUB, please make sure that you've received this important email (also by checking your spam box). In case you have not received this email, please contact the coordination team as soon as possible at : coordination@ern-ithaca.eu
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Latest updates on ERN Exchange Programme (ITHACA)
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After our monthly follow-up meeting with ECORYS, we presented an update on the applications currently posted on the online registration tool.
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Applicants who have submitted their applications will be contacted during March in order to confirm their affiliation to the ITHACA network.
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The online registration tool will remain open to all applicants affiliated to ITHACA who wish to be part of the programme. If you are interested in submitting your application, please complete carefully the line dedicated to this purpose on sheet 2 "Proposals for Exchange visits". During the monthly follow-up meeting with ECORYS, we will make a brief review of the situation in order to handle with ECORYS the visits logistical organisation.
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All information is available on our website via this link: A presentation flyer is at your disposal here.
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If you have any further questions about the programme, please do not hesitate to contact the coordination team at: coordination@ern-ithaca.eu
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Work in progress
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Latest updates on collaboration with Orphanet
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As a follow-up on our collaboration with Orphanet, you will find below the current month publications by ITHACA experts and the listed syndromes below:
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Coffin-Lowry syndrome A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. The summary has just been updated on Orphanet (ORPHA:192) - January 2021 and revised by Dr Stefania …
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Patient Organisation
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#S4RMonth 2021activities
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The Share4Rare platform is a safe space where patients and carers can connect, share knowledge and get involved in scientific research. You may get more information on:
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European News
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Handbook and toolkit of the ERNs Clinical Practice Guideline Programme
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This handbook is the outcome of the extensive literature review and consultation process carried out by the Consortium in charge of the implementation of the Programme. The presented methodology is based on the current international “gold standards” that have been developed along the years and used by key international and national bodies and organisations specialised in the development of Clinical Practice Guidelines and other Clinical Decision Support Tools.
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This material is an important step forward of the ERN CPG programme and a key element and tool for the work of the ERNs in the production, adaptation, adoption and appraisal of the different guidelines and technical sub-products to be used for now on by all the ERNs. The methodology will ensure the quality and standardisation of the CPG and CDST produced and used by the ERNs, the backbone of the process of the diagnosis and treatment of patients suffering of rare or low prevalence and complex diseases.
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The handbook includes 12 separated guidelines addressing the following conceptual and methodological aspects of the programme:
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Assessment of the Member States' rules on Health Data in the light of GDPR
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The study on the EU Member States’ rules on health data in the light of GDPR supported by the Commission which paves the way for the creation of the European Health Data Space has been published.
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The objective is to examine and present the EU Member States’ rules that govern the processing of health data in light of the GDPR. The aim was to highlight possible differences and identify elements that might affect the cross-border exchange of health data in the EU for healthcare or for research, innovation and policy-making, and examine the potential for EU level action to support health data use and re-use.
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The study, which comprised of a series of workshops as well as online consultations among stakeholders across the EU was executed by a team of experts from the EUHealthSupport consortium. The European Commission, DG Health and Food Safety, has published the results of this study, and a link to the eNews is available here. The link to the study also appears on the following webpage:
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SOLVE-RD Annual Meeting 2021: 19-21 April 2021
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The next Solve-RD Annual Meeting will take place from 19-21 April 2021. Due to the current pandemic, it will be fully virtual. Registration is now open: please register here by 9 April 2021.
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The agenda will be based on submitted abstracts. You can submit an abstract to one of the seven abstract categories (collection of phenotypes; new phenotypic pattern; re-analyse
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exomes / genomes, novel molecular strategies; functional analysis; clinical utility; towards therapy).
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Registration for ESHG 2021 – Virtual Conference: June 12–15, 2021
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The ESHG 2021 will be held as a virtual conference on an online platform. To gain access to the virtual platform, registration and payment is required. Please Follow this link to register online
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If you are abstract submitter Please do not register for the conference here, but wait for the conference office to send you a personalised registration link with your acceptance notification. This is to guarantee that the access data is correctly linked between the registration system, the abstract submission system and the virtual conference platform.
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In case you are an invited speaker, committee member, external reviewer, or workshop organiser: Please do not register for the conference here, but wait for the conference office to send you a personalised link for your registration.
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International E-Workshop Fragile X - March 18th and 19th 2021
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The International X Fragile & associated conditions workshop, proposed by the Fragile X France association as part of its thirtieth anniversary, becomes the E-Workshop! This event, organized in consultation with the Association’s Scientific Board and in partnership with DéfiScience (the National Network for Intellectual Disabilities), is reserved exclusively for professionals. It will aim to connect professionals working on …
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News From EJP RD
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EJP RD International course: Training on strategies to foster solutions of undiagnosed rare disease cases
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If you want to get useful tools & knowledge on novel strategies to foster solutions of undiagnosed #RareDisease cases, and network among professionals, this training is now open for registrations!
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Register before March 7th
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3rd Call for Research Training Workshops (27January - 7 March 2021)
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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 methodologies, 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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Applicants/Application profile:
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The applicant submitting workshop topics must fulfil one of the following conditions:
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- Affiliated to any EJP RD beneficiary institution.
- Affiliated to an ERN Full Member. The list of full ERN members per country and per network can be found here
- Affiliated to an ERN Affiliated Partner institution at the time when the application is submitted, as well as during the period of the execution of the workshop.
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ITHACA Upcoming Events :
- February 23th - Monitoring Data exercice for 2020 second semester opening
- March 9th - APOGeE project Steering Committee Meeting
- March 10th - Internal ERNs Coordinators Group Meeting
- March 18th - Update on Exchange Programme Meeting with ECORYS
- March 19th - HCPs Data collection exercise for the period January-December 2020 Closes
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