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ERN-ITHACA Projects
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ERN ITHACA Webinar #7 " Speaking or not speaking, epilepsy or not epilepsy: is Rett syndrome a real monogenic disorder?" | Registration open
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Chaired by Alessandra Renieri M.D., Ph.D., Professor of Medical Genetics, University of Siena Italy
The Rett syndrome spectrum is so wide ranging from severe neurodevelomental disorder to mild autistic feature that paradoxically the main diagnostic handle is on remote anamnesis of abrupt arrest. Striking phenotype will be showed together with molecular explanation
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The webinar will be held on Tuesday, May 9, 5h00-6h30 pm, French time.
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EuroDysmorpho 2023 | Abstract submission
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Don't forget to submit your abstract for the EuroDysmorpho Meeting!
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Eurodysmorpho is open to any presentation in the field of human development: large series of patients or single, illustrative case reports.
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Deadline for submitting an abstract: May 26, 2023.
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Date of the event: September 13-16, 2023.
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EuroNDD 2023 Workshop
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Thank you to all participants and speakers of the EuroNDD 2023 workshop for making this first meeting a sucess!
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EuroNDD 2023, the first European workshop on rare developmental disorders, gathered around 250 people in Amsterdam last April for a two-day meeting to discuss intellectual disability and neuropsychiatry, data sharing and registries, transition of care, therapeutic developments and pre-clinical research in model systems.
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The next edition of the workshop will be held in 2024 in Lisbon. Dates will be communicated soon.
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Upcoming events
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- March 9: ERN-ITHACA, Teaching and Training Workgroup, Webinar "Speaking or not speaking, epilepsy or not epilepsy; is Rett syndrome a real monogenic disorder?"
- June 4-6: Trans-ERN Workshop on Fetal and Postnatal multidisciplinary management in RD (Myelomeningocele and LUTO), Krakow, Poland
- June 10-13: ESHG Congress, Glasgow, United Kingdom
- June 11: ERN-ITHACA Intermediate Board, Glasgow, United Kingdom, ESHG
- September 13-16: EuroDysmorpho 2023, Lisbon, Portugal
- October 16-18: 20th Manchester Dysmorphology Conference, United Kingdom
- December 7-9: ERN-ITHACA Board, Dublin, Ireland
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European News
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Kleefstra Syndrome Scientific Conference, June 1-2 | Registration open
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The Foundation IDefine Europe is inviting you to the 2023 Kleefstra Syndrome Scientific Conference “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work” on June 1st and 2nd 2023.
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The event brings together Kleefstra syndrome PAOs, clinicians and researchers from different domains having a common interest: share new research findings related to Kleefstra syndrome. A special focus is given to artificial intelligence (AI) and data science, which is generally still something new for the rare disease communities, but it can play a crucial role, especially in shortening the time needed for new research insights.
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Registration free of fees
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Place: Ljubljana, Slovenia & online
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New session of the MOOC: From Lab to Clinic: Translational Research for Rare Diseases
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The new session of the MOOC "From Lab to Clinic: Translational Research for Rare Diseases" is available. Learn the fascinating journey of translating research into treatments for Rare Diseases.
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With expert guidance, explore drug discovery, clinical trials, regulatory approval, and challenges in this unique field. Gain insights from patients and experts, understand trial planning, design, and data sharing. By the end, you'll have a comprehensive understanding of how evidence is built for safe and effective treatments.
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Join now and make a difference in Rare Disease research!
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Call for collaborative clinical research on developmental disorders
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