News
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First international conference on DDX3X syndrome – October 20
The DDX3X Commission of the Xtraordinaire association is pleased to announce that the first international conference on DDX3X syndrome will be held in Paris on 20 October 2023, followed by a families meeting on Saturday 21 October. The aim of the conference is to bring together doctors, families, researchers and all professionals in the field of care or educational support, […]
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ERN-ITHACA New Epags Call
European Patient Advocacy Groups (ePAGs) are essentiels to ERNs. Their mission is to be the voice of patients and their families in all the different projects carried out by ITHACA. Within our network, ePAGs and specialists, whether doctors or researchers, work hand in hand towards the same goal: improving the lives of those with rare […]
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Manchester Dysmorphology Conference 2023 – abstract submission until May 31!
The Manchester Dysmorphology Conference welcomes professionals working in the field of dysmorphology or congenital malformations, or developmental disorders. The first Conference was organized in 1984 by Professor Dian Donnai. Over the years, this biennial conference has brought experts within the field of genomic syndromology together from around the globe, to share knowledge and ideas which further […]
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EJP RD
EJP RD: 6th Research Mobility Fellowship call is open until November 18th
The programme aims to support PhD students, postdocs and medical doctors in training to undertake scientific visits to foster specialised research training outside their country of residence. The exchange can be carried out (1) within the same ERN (Full Members and Affiliated Partners), (2) between different ERNs (Full Members and Affiliated Partners), or (3) between […]
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ERN-ITHACA Event
ERN ITHACA x eUROGEN Workshop Validation of the Orphanet classification of human Dysraphism
This Workshop is co organised by the ERN-ITHACA Spina Bifida and other dysraphism Workgroup. Dowload here the program and instruction on how to get to the venue: https://ern-ithaca.eu/wp-content/uploads/2022/10/Program-Workshop-Rome-19-21-oct-2022_-final_Instruction.pdf
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ERN-ITHACA Event
Register now to the Multidisciplinary Fetal Diagnostics Winter School, December 7-8, Paris, FR
Content The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the […]
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ERICA Online Overview of all ERN Research Studies
The ERICA Consortium has created a new online tool to present all inter-ERN research projects. The tool is available at this page: https://erica-rd.eu/research-wall/ It provides basic information about the open calls for collaboration as well as contact details. Please note that for now, the page only contains examples. The new projects that will be advertised via this tool will also be regularly […]
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EJP RD
EJP RD: Call for funding opportunity
Update: the call is now closed. We would like to share this call for a grant opportunity we have just received from the EJP RD: DDX3X pathogenic or likely pathogenic variations are responsible for intellectual disabilities in women, (also named Snijders Blok type of X-linked syndromic intellectual developmental disorder (MRXSSB); orphanet: 457260, OMIM: 300958) and more frequently in man. […]
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Solve-RD
ERN-ITHACA WEBINAR#3: The Solve-RD Program
“Solve-RD – solving the unsolved rare diseases” is a research project funded by the European Commission for five years (2018-2022) which the ERN-ITHACA has been a partner of. Now that the first part of this program is coming to an end, we would like to share with you its interesting results throught this Webinar. The webinar […]
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IRDiRC
EJP RD: New IRDiRC Working Group on MedTech
IRDiRC’s Therapies Scientific Committee (TSC) & Interdisciplinary Scientific Committee (ISC), alongside with the University of Twente are jointly establishing a Working Group to explore the role and value of medical devices in rare diseases. The Working Group aims to create a better understanding and enhanced awareness of device developer’s needs, the standardized outcomes to define user needs for devices, and […]
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EJP RD
EJP RD: Pre-announcement of the Joint Transnational Call 2022
The European Joint Programme on Rare Diseases just pre-announced the Joint Transnational Call 2022, a funding opportunity for research projects on the development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases. The aim of the funding opportunity is to enable scientists in different countries to build an effective collaboration […]
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EJP RD
Get EJP RD’s support on your application for the Horizon Europe Call for...
As part of EJP RD’s support for rare disease research, multiple services are available to aid in the Horizon Europe Call for Proposals: Development of new effective therapies for rare diseases. Data FAIRification: making resources Findable, Accessible, Interoperable and Reusable for humans and machines. The Clinical Studies Support Office can assist with the design of clinical trials both in terms of […]