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June 2021
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ERN ITHACA Projects
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31st European Dysmorphology Online: 2021 September 22 - 25
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Registration closed on 25 June, and we are delighted to announce that we have received a considerable number of abstract submissions. We would like to thank all those who have expressed their wish to participate in this event, which is already expected to be very interesting and rich!
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We are currently reviewing the submitted abstracts and will inform all those who have submitted an abstract about the status of their submission in the coming days. We will also answer all individual questions and requests about the event.
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After the summer break (15 July - 15 August), we will resume the organisation and keep you informed with the final programme and login details.
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Many thanks also to all those who have registered via the form as observers of the event. We will come back to you with more information at the end of August.
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APOGeE Project: Call for collaboration
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At the recent Board meeting of ERN-ITHACA, Pr Alain Verloes has presented the state of progress of our APOGeE project. We would now like to identify the co-authors of this treatise.
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We have set up the following survey for which we would like your contribution. The chapters are available here and include several sub-chapters for the development and pathophysiology chapters (the sections on a blue background). At this stage, we would like to identify potential co-authors for each chapter/sub-chapter in blue: you can propose yourself, one of your collaborators, or someone in your institution or research unit who could write each part (each author will be clearly identified at the head of the chapter).
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Depending on the answers, some chapters may have several co-authors. For the "clinical" chapters, we will also solicit other ERNs with a more clinical focus.
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The content of a chapter can be a new document ad hoc, or the transposition of a master course, or a book chapter, or an existing publication: very often, publishers allow the reuse of published material, provided that it is for educational, non-profit reasons, and that the source is clearly mentioned and thanked.
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The survey is divided into 3 parts:
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Part 2: Collaboration proposals coming from ITHACA network with 5 choice possibilities: one per chapter
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Part 3: Collaboration proposals coming from external experts connected with your affiliated ITHACA centre: 10 proposals choices
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Please submit your choices by Friday 2 July.
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APOGeE is a product of a European effort to disseminate genetic knowledge. We are a community of 70 academic hospitals. We would like to see as many member states and HCPs as possible represented in this textbook, and we thank you all in advance for your help and collaboration in this great project.
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Work in progress
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Call for participation in the HPO working group on prenatal phenotypes
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ERN ITHACA has launched a new WG on Prenatal Medicine and a call for collaborations with HPO is ongoing.
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Following our webinars on fetal phenotyping and genotyping on the 8th and 11th of June, we would like to invite all interested experts to register for the HPO prenatal working groups. For all those who could not attend the webinars, the recordings are available following this link, including a short introduction by Peter Robinson on how the HPO-project is organized. The slides from his presentation can also be viewed using the links below. Please do not forget to mention ITHACA when expressing your interest in the initiative (in the affiliation details)!
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Below are links and details from the HPO-team on how to join the Prenatal HPO group:
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- A step-by-step guide to joining HPO and to finding more information about the Prenatal HPO effort, including a link to introductory slides, is available at https://bit.ly/onboard-prenatal-hpo
- The HPO-team would like to gather information about you and your expertise, as well as capture your consent to the HPO Governance. Please fill out the following form: https://bit.ly/join-prenatal-hpo
- You will need to read the Prenatal HPO Working Groups Governance to answer a question in the form. The Governance is available at https://bit.ly/prenatal-hpo-governance. Please take a moment to read through the document and share your comments (if any) in the form above.
- You will need to create a GitHub username (handle) and share it with the HPO-group in the form. Details about how to do that can be found in slides 10 through 12 at https://bit.ly/phpo-intro
- Once you have 'onboarded' by filling out the form and studying the objectives of the project, please review a simple explanation about where and how to contribute to this effort, which can be found on the Agenda document for our working groups, at https://bit.ly/phpo-6 -- you can follow points 4, 5, and 6. The title reads that this is the agenda for the Cardiac working group, but it is not really system-specific. Please feel free to use it to guide your steps.
- In case it is useful / easier, all the steps are also listed in the 'Intro slides' at https://bit.ly/phpo-intro.
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Call for Expertise on Intellectual Disability
On 11 June 2021, the WG Teaching & Training held a webinar on "Care of the old", focusing on adults and aging within intellectual disability, standardised geriatric assessment and care.
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We thank you for your active and productive participation in this meeting. If you wish to replay the recording, please follow this link.
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This webinar aimed to enrich the development of the ID Working Group projects and launch the new SNW 1 working group on adults with mild intellectual disability.
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Dr Stéphanie Miot, (MD, PhD, geriatrician, psychiatrist and neurobiologist - University Hospital of Montpellier, Gerontology Department, Montpellier, France) and Dr Laura de Graaff, (MD, PhD, medicine and endocrinology for rare genetic syndromes - Erasmus MC Rotterdam - The Netherlands), will lead the new working group.
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The project is to carry out and achieve a generic recommendation for the management of mentally disabled adults to guide professionals and families to deliver optimal care: Therefore, we need to bring an interdisciplinary and international group of experts on ID.
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If you are interested and need more information, you are very welcome to attend our first meeting: "Call for expertise on ID", scheduled for 7 July, at 2:00 PM CEST.
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To get more details and register: please email Anne Hugon here
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Enjoy the MOOC BIG - introduction to Bioinformatics and Genomic medicine! Learning journey online course: July 5th 2021
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The MOOC BIG pedagogical team is pleased to invite you on the learning journey to the online course MOOC BIG - introduction to BioInformatics and Genomic medicine.
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If you want to know more about Bioinformatics basics at the heart of Next Generation Sequencing and take your first step on bio-analysis and command line, you’ll be in the right place.
After the success of the first edition (in French, more than 5000 participants), a bilingual English and French version of the MOOC BIG is proposed with the great help of the ERN ITHACA community. This time, the MOOC will be self-paced and available for a year.
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16 speakers, physicians, bioinformaticians and biologists have been invited and will guide you through the 5 learning units of the MOOC, starting from July 5th 2021!
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Want to know more about the MOOC BIG? Register now to the MOOC here
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Patient Organisation
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Eurordis Plack Pearl Award: it's nominations time again!
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Don't miss your chance to nominate your star of the rare disease community, or enter yourself for one of the EURORDIS Black Pearl Awards 2022.
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The 12 award categories recognise the outstanding efforts of individuals, organisations, companies, researchers, scientists, media, and policymakers in bringing about change to improve the lives of the 30 million people in Europe and 300 million worldwide living with a rare disease.
Nominations can be submitted from anywhere in the world!
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Among all the nominations received, the EURORDIS Board of Directors will select the awardees in October 2021. In addition, EURORDIS has partnered with Orphanet to evaluate the Scientific Award nominations and Medtech Europe for the Company Award for Health Technology.
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A few finalists will be selected for the Young Patient Advocate Award and the Social Media Award, for which a public vote will determine the winners.
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The awardees will be presented with their awards at the official Ceremony next February to mark the occasion of Rare Disease Day.
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Nominations deadline: 10th September 2021. Do not hesitate to contact Martina Bergna, EURORDIS Events Manager, for any questions regarding the nomination process.
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European News
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Patients’rights in cross-border healthcare: Evaluation of the cross-border healthcare Directive
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Together with Empirica and Asterisk, Tetra Tech has been commissioned by the Directorate-General for Health and Food Safety to carry out a study to support the evaluation of the Directive 2011/24/EU on the application of patients’ rights in cross-border healthcare. Under this Directive, EU nationals have the right to seek planned healthcare in another EU country. They can also claim reimbursement for treatment from their national health system or health insurance provider. The evaluation, and the supporting study, will assess how the EU rules are working, in particular, as regards to:
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• giving patients access to safe and high-quality healthcare in another EU country; • encouraging cooperation between national healthcare providers, also on rare diseases and European Reference Networks.
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Your participation:
We would like to invite you to contribute to the evaluation of the Directive by participating in two consultation exercises:
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• Public consultation, open until 27 July 2021 and accessible here
• Targeted consultations to be conducted by the study team between June and September 2021.
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You will be invited to one or more of the following activities:
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• Participate in an interview with a member of the study team
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• Complete a short survey
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• Participate in a stakeholder workshop to discuss the findings of the study.
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Solve-RD Publication series
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For the first time in Europe, hundreds of rare disease experts team up to share actively and jointly analyze existing data from unsolved rare disease patients. The Solve-RD project published a series of papers in the European Journal of Human Genetics describing the new approach and the structures established to warrant the best exchange of expertise. Involved in the project are data scientists and genomics experts, as well as expert clinicians and geneticists from the European Reference Networks (ERNs). In an accompanying paper, the first results of the approach to solving rare diseases through programmatic reanalysis of genome-phenome data are described. In addition, four case reports from the ERNs show the advantage of the approach and provide details why the patients have only now received their diagnosis.
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The University Hospital Tübingen has published a press release in German and in English.
And here is the link to the press release from the Radboud UMC in Dutch.
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News from EJP RD
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EJPRD Resource Webinar: Metabolights - 2021 July 22th 15:00 -16:00 CEST
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The next EJP RD webinar will be dedicated to MetabolIghts (database for Metabolomics experiments and derived information) and held on 22/07/2021 from 15:00 to 16:00 CEST
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MetaboLights is a database for Metabolomics experiments and derived information. It is cross-species, cross-technique and covers metabolite structures and their reference spectra and their biological roles, locations and concentrations, and experimental data from metabolic experiments.
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MetaboLights is the recommended Metabolomics repository for several leading journals.
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Participants will be introduced to metabolomics and the EMBL-EBI MetaboLights resource. This will include the different types of data in the repository and search and access the data.
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Free EJP RD International Summer School on #RareDisease Registries and FAIRification of Data: 2021 Sept 27th – Oct 1st
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As part of the training activities proposed by the EJP RD, the International Summer School on Rare Disease Registries and FAIRification of Data is a 5-day online training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration EJP-RD task partners, aimed at the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and patients’ representatives.
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Registration until July 11th, and more information here
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ITHACA Upcoming Events :
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- August 28-31th: ESHG annual meeting
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-September 22-25: EuroDysmorpho E-Workshop
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The whole ITHACA team wishes you an excellent summer break!
The next Newsletter will be issued on 31 August 2021
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