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September 2021
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ERN ITHACA Projects
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EuroDysmorpho Online 31st Edition
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The 31st edition of EuroDysmorpho was held online from the 23rd to 25th of September and was a great success. More than a hundred participants were connected every day to listen and discuss all presentations. Thank you all for participating! We are already looking forward to the 2022 edition, which should be held face-to-face!
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We will send the abstract book to all participants no later than Friday, October 1st.
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We've also recorded expert talks from this EuroDysmorpho edition and we will be pleased to share them with you. They will be available soon on our website, and we will notify our network as soon as they are published.
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Here are the talks you will find:
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- Pr Alexandre Reymond: "State of the art in 16p11.2 rearrangements."
- Pr Jill Clayton-Smith: "Angelman Syndrome"
- Pr Florence Petit: "Genetic & epigenetic control of limb development and its anomalies."
- Pr Bekim Sadikovik: "Epigenetic signatures in syndromes."
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EuroDysmorpho Best Presentation Winner
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Congratulations to Paolo Zanoni, MD, PhD, who was awarded with the prize for best presentation for his talk entitled: “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.”
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New MOOC session : "Diagnosing Rares Diseases : from the Clinic to the Research and back": 4 October 2021
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The new MOOC session (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” co-developed by the EJP RD (European Joint Programme on Rare Diseases), the ERN Ithaca, ERN Genturis and the Rare Diseases Foundation, will be open starting from October 4, 2021.
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Registration is free of charge and available following this link.
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The course’s first session has attracted nearly 1800 participants from 117 countries (40% outside Europe). With a 91.5% satisfaction rate and an 18.3% completion rate, and generated 1836 comments from learners.
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We specifically encourage medical and biomedical students to attend this MOOC.
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Please find the course syllabus here.
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Work in progress
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ERN-ITHACA Annual Board
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Our 2021 annual board will take place in Madrid, from Thursday 9th to Saturday 11th of December. The registration form is now closed, but please contact us if you want to participate. This 2021 edition will be very special as it will be our first physical meeting for a long time, we also will welcome our new 31 members and discuss the new 5-year work plan for ERN ITHACA.
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We hope to see you all in Madrid!
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ERN ITHACA Exchange Program
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To this date, two doctors have benefited from the exchange program, and their feedbacks are highly positive. One of them will present to you her experience at the Board.
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Six other doctors are currently preparing for their trip, and we already have packages available for more applicants. We encourage you to learn more about the program on our website and, if you are interested, to submit your application by completing carefully the line dedicated to this purpose on sheet 2, "Proposals for Exchange visits". Please note that registration is open to all applicants affiliated to ITHACA.
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APOGeE Online e-learning tool
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The APOGeE project is still advancing, and we are currently looking to hire a pedagogical engineer to work on the moodle platform. The writing and editing of the book's chapters should begin at the end of the year.
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Updates on APOGeE project will be discussed at the next ExCom meeting on 11 October.
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Orphanet-ITHACA Call
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As part of the collaboration between Orphanet and ITHACA, we are looking for experts to write/update the abstracts on the shortlist, accessible here.
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For information, the Orphanet Encyclopedia for Professionals provides expert-reviewed clinical information on rare diseases. Orphanet defines an Expert Reviewer as a medical doctor with superior experience in a rare disease or a group of rare diseases. This is typically demonstrated by published articles (particularly reviews and guidelines), but dedicated research activities, including clinical trials or direct clinical experience with these patients, is acceptable.
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If you are interested, please sign up via the table before the 30th of October. The Orphanet Editorial team will then contact you directly with the relevant information to proceed. If you wish to write or update an abstract for a disease, not on the list, please contact the Orphanet Editorial team first at edition.orphanet@inserm.fr.
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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 on the following syndromes :
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ITHACA Experts: Dr Stefania Bigoni and Pr Alessandra Ferlini
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ITHACA Expert: Dr Perrine Brunelle
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ITHACA Experts: Dr Alice GOLDENBERG and Dr Gabriella VERA
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European News
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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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For any further information, please feel free to reach out to Lilia BEN SLAMA. The meeting flyer can be downloaded here.
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[IRDiRC, action before 29 October 2021] Call for Nominations – Primary Care Task Force
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IRDiRC is currently seeking experts to populate the Primary Care Task Force. You can download below :
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If you are interested in taking part in this IRDiRC activity or would like to propose candidate(s), please send the expression of interest with the below information to the Scientific Secretariat (scisec-irdirc@ejprarediseases.org) before 29 October 2021.
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- Name of the candidate
- Affiliation and location of the candidate
- Contact information of the candidate
- Expertise that the candidate is expected to contribute to this Task Force
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Solve-RD GPAP Webinars
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Solve-RD will host two webinars on features of the RD-Connect Genome-Phenome Analysis Platform (GPAP) in October 2021. The first webinar focuses on basic analyses, and the second webinar focuses on advanced platform features. Everyone who is interested is invited to register and join the webinars.
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We remind you that Solve-RD Annual Meeting 2022 will take place from Monday 25th to Wednesday 27 April 2022 as a face-to-face meeting in Prague, CZ.
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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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The fully online event will take place from October 25th – 27th. Registration is now closed.
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ITHACA Upcoming Events :
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- October 4th: MOOC “Diagnosing Rare Diseases”: From the clinic to the research and back
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- October 11th: Third 2021 EXCOM meeting: 6:00 - 7:00 PM Paris time CEST
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