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January 2022
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ERN-ITHACA Projects
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EuroDysmorpho 2022 | Barcelona, 14th-17th September
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As previously announced, the 32nd edition of EuroDysmorpho will be held face-to-face in Barcelona, at the ITHACA Center Sant Joan de Déu Children's Hospital (represented by Dr. Francesc Palau).
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Definitive dates of the event are: from Wednesday 14th to Saturday 17th of September 2022.
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Registrations will be open on our website on this page by late February.
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APOGeE Text-book | Campaign for authors
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The APOGeE textbook is still looking for authors. To know more about the project, you can visit our website or write to Nicholas, APOGeE's Project Manager (nicholas.szeto@aphp.fr).
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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. We encourage you to share these links around you, to professors or researchers that might be interested.
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ERN-ITHACA Board | Expert Talks recordings now online
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ExCom Member Sofia Douzgou nominated in IRDiRC Telehealth Taskforce
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European News
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SysNDD: more than just a gene list! A call for NDD expert curators
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The new SysNDD database will replace its predecessor SysID as a regularly updated, manually expert curated database on NDD associated genes and related diseases and phenotypes. For a one-time re-curation of all entries we are looking for expert curators who are interested in contributing their expertise to this resource, to specifically take care of their favorite genes and to be involved in possible future studies and publications on SysNDD.
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For further details, please visit our website at this page.
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European conference on Rare Diseases 2022
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EURORDIS and Orphanet organise the European Conference on Rare Diseases 2022. ECRD 2022 will be held online from 27 June to 1 July 2022. Registration will open on 7 March 2022. Poster abstracts submissions for the ECRD 2022 are now open until 31st March 2022.
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EURORDIS | Black Pearl Award 2022
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EURORDIS event Black Pearl Award will be held online on Tuesday 8th of February. Register here to attend the ceremony or visit their website for more information.
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News from EJP RD
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EJPRD x ERN-ITHACA Workshop on Spina Bifida
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The EJPRD and the ERN-ITHACA are organising an on-site Workshop in Rennes, France, on Thursday 31st of March and Friday 1st of April, to gather researchers and clinicians from different ERNs to discuss innovative diagnostic tools, new treatments and address future research on Spinal Dysraphism.
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Travel and hotel expenses will be reimbursed for all selected ERN participants (maximum 20).
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If you are interested in this Workshop, please visit the EJP-RD website for more details or directly fill in the online application form before the 7th of February.
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