Latest News
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EuroDysmorpho: deadline for abstract submission extended to June 13
The deadline to submit your absract for the EuroDysmorpho Workshop has been extended to Friday, June 13, 2025. Eurodysmorpho offers a welcoming platform for early-career clinical geneticists and trained dysmorphologists to come together, share experience, and discuss clinical challenges. We welcome all types of presentations related to human development—from patient series to single case reports. […]
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We need your help for our MOOC!
MOOCs are valuable tools to disseminate highly specialised knowledge to large audiences. The ERN is thus partner of two MOOCs: one course created by the late European Joint Program on rare Diseases (EJPRD) and hosted by the Fondation Maladies Rares on how to diagnose rare diseases, and an introductory course on genomic medicine and bioinformatics managed by the Université […]
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Abstract Submission is now OPEN for the 27th SSBP Research Symposium4th-6th September 2025Amsterdam,...
The SSBP is delighted to advise that Abstract Submission is now OPEN for our 27th SSBP International Research Symposium in Amsterdam, the Netherlands, with the theme “Towards Personalised Care for Rare Genetic Disorders”. The Conference will be held 4-6th September 2025, with the Educational Day on the 4th September and the Research Symposium 5-6th September […]
Open Calls
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June 27, 2025
Further description of the phenotypic spectrum of Diphthamide Deficiency Syndrome 2
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June 25, 2025
Further delineation of PPP2CA-related, HOUGE-JANSSENS SYNDROME 3
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June 16, 2025
VAMP2-related SNAREopathies: from mechanism to therapeutic approach
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June 16, 2025
Towards a better understanding of the clinical and molecularspectrum of familial Rubinstein-Taybi syndrome