Upcoming Events
Latest News
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Save the date for the second ITHACA clinic on the CPMS platform!
Following the success of the first ITHACA Clinic, we are pleased to announce the launch of another session. The ITHACA Clinic is a multidisciplinary forum that brings together clinicians, molecular geneticists, and researchers on the CPMS platform to provide expert recommendations on challenging cases. Beyond a standard consultation, this is an opportunity to leverage the […]
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New MOOC Launch: From DNA to Cure – Gene and Gene-Modified Cell Therapies...
With over 95% of rare diseases still lacking approved treatments, there is a pressing need for specialized education in next-generation therapeutics. To address this gap, the Foundation for Rare Diseases (FFRD) is excited to announce the launch of their new Massive Open Online Course (MOOC) on FutureLearn: “From DNA to Cure: Gene and Gene-Modified Cell […]
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Dysmorphology Summer 2026
We are pleased to announce the 2026 international “Dysmorphology Summer”, which will take place on August 20–22, 2026 in Palanga, Lithuania. This annual meeting has deep traditions of bringing together clinical geneticists, medical geneticists, neonatologists, and other specialists working with rare diseases and syndromology. Participants review challenging diagnostic dilemmas, and explore the latest advances in diagnostic and treatment possibilities in an open and friendly […]
Open Calls
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April 1, 2026
Phenotypic spectrum in Mosaic Variegated Aneuploidy syndromes (MVAs)
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March 30, 2026
Exploring genotype-phenotype correlation in RARS2-related disease
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March 26, 2026
Variants in OGA/MGEA5 gene linked with intellectual disability and epilepsy
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March 25, 2026
Pheno-genotypic characterisation of UQCRQ-related mitochondrial disorder
