Latest News
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Registration now open: EPNS Research Meeting 16-17 October 2026, Thessaloniki, Greece
We are pleased to share that the European Paediatric Neurology Society (EPNS) will hold its 2026 Research Meeting on 16-17 October in Thessaloniki, Greece. The event will feature plenary lectures from leading experts and interactive sessions, including two break-out sessions with five parallel working groups covering Autoimmune & Infectious Diseases, Developmental Neurology & Neurogenetics, Epilepsy, […]
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New MOOC: From DNA to Cure – Gene and Gene-Modified Cell Therapies for...
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 launching its new Massive Open Online Course (MOOC) on FutureLearn: “From DNA to Cure: Gene and Gene-Modified Cell Therapies for Rare Diseases.” Coordinated by FFRD and developed […]
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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 […]
Open Calls
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May 12, 2026
LGI3 consolidates the phenotype with functional studies on missense variants
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May 12, 2026
Towards the clinical, radiological, and genetic characterization of autosomal recessive ITFG2-Related Neurodevelopmental Disorder
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May 7, 2026
Variants in KMT2D (exons 38-39) – BCAHH syndrome
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May 7, 2026
Subdural hemorrhages in Sturge-Weber syndrome
