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ERN-ITHACA Projects
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ERN-ITHACA Board | Bucarest, December 2022
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We are happy to announce that our annual Board meeting will be held at the ERN ITHACA Bucarest Center, represented by Dr Kinga Hazsdiev, on the 8, 9 and 10 of December 2022.
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ERN-ITHACA intermediate Board | Vienna, September 2022
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The ERN-ITHACA intermediate Board meeting will be held in Vienna at the ESHG Congress on Sunday 12th of June, from 13h30 to 15h30.
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For organisational purposes, we would greatly appreciate if you could fill in this participation form before the 30th of April.
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EURODYSMORPHO | Register online
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Eurodysmorpho is open to any presentation in the field of human development (large series of patients or single, illustrative case reports).
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This year's edition will be held in Barcelona on the 14,15,16 and 17 of Septembre 2022. For more information, please visit our website or write to us at coordination@ern-ithaca.eu.
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European Exchange Program | Resumption of the program
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We are pleased to inform you that the European exchange program has been resumed. The project had been suspended since December 2021 because of the Covid Situation.
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A few changes follow this resumption:
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- The program is extended to December 2022
- Group visits are now eligible
- A visit can last up to 6 weeks
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APOGeE Text Book | Campaign for authors
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The APOGeE textbook is still looking for authors. APOGeE (A Practical Online Genetics e-Education) is a free online textbook to be written by authors from the ITHACA network and other ERNs. Its topic covers biological genetics, formal genetics, a clinical and physiological approach to genetic diseases, precision medicine, and treatment of genetic diseases.
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If you want to participate in its creation, please have a look at this provisional table of contents and fill in this online form to indicate the chapter(s) you would like to work on.
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We encourage you to share these links around you, to professors or researchers that might be interested.
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(Screenshots of the textbook in progress)
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European News
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Solve-RD | Workshop "Navigating the Sandbox"
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This combined webinar & workshop will provide an update on Solve-RD Sandbox services/functions, and also consider future plans, needs and possibilities. Intended participants include ERN data controllers/producers (to ensure that their data is being managed in ways they are happy with) and DITF members (to ensure they have services they need now and going forward).
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The meeting will be held online on Thursday, 19 May 2022, 14:00 - 15:30 CEST.
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Registration is required to participate. Click here to register.
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Orphanet x ERN ITHACA | New OrphID Platform
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Orphanet has partnered with ERN-ITHACA in order to develop a platform for curated intellectual disability related genes and phenotypes. This platform (OrphaID) provides systematic and comprehensive access to and retrieval of ID-specific information within Orphanet. The list of intellectual disability-related genes is curated in partnership with ERN-ITHACA and SysID/SysNDD (www.sysid.dbmr.unibe.ch) and is linked to both internal (e.g. genes information, classification, HPO signs within Orphanet) and external resources (e.g. SysNDD, OMIM).
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Online course on April 18th "Diagnosing Rare Diseases"
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We specifically encourage medical and biomedical science students to register and follow the MOOC.
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You can check the syllabus here.
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ERN Workshop Functional exploration of genetic variants in cardiac disease
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In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Functional exploration of genetic variants in cardiac diseases” aimed at presentation of functional explorations of variants of interest identified using Drosophila, C. elegans, Zebrafish and iPSc models to understand the molecular bases of genetic diseases, in particular heart and muscle diseases, is being organised by Philippe Chevalier of the Hospices Civils de Lyon.
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The in-person event will take place over two days on June 14th – 15th at the Hospices Civils de Lyon in Lyon, France.
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The workshop is open by prior registration and selection to cardiologists, molecular biologists, post-docs, medical fellows, and PhD students and who are employees of or affiliated to an ERN Full Member or affiliated Partner institution.
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The training workshop is free of charge and consists of interactive presentations and discussions.
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Registration closes on May 1st, and those selected to participate from among the applicants will be informed by May 9th of their selection.
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Call for collaborative clinical research on developmental disorders
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