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ERN-ITHACA Projects
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EuroDysmorpho 2023 | Abstract submission now open
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You can now 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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Place: Lisbon, Portugal (Lisbon Academic Medical Center).
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Workshop on Fetal and Postnatal multidisciplinary management in RD (Myelomeningocele and LUTO) | Save the date
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The ERN-ITHACA Spina Bifida Workgroup is organising a new trans-ERN workshop (along with eUROGEN and ERKNET) to foster collaboration between different fields and their specialists in order to improve the safety and efficacy of new diagnostic techniques and therapies for SBoD.
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This new workshop will be dedicated to multidisciplinary and multicentric research on fetal and postnatal interdisciplinary management for congenital neurogenic bladder in rare surgical diseases: Myelomeningocele and not neurogenic causes of congenital bladder dysfunction (LUTO).
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Fees: No fees; participants will receive financial support from the EJP-RD.
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ERN ITHACA Webinar #6 "Innovation in Newborn Screening"
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With this new webinar about newborn screening (NBS), we will present two European pilot programs to extend NBS with a genomic approach, discussing on technical, clinical, and ethical aspects. We will also present an innovative research project to accelerate rare disease diagnosis, with a pillar focused on NBS, and the voice of patients. Finally, we will briefly present a research project aiming at studying the acceptability of the expanding NBS in a European country.
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The webinar will be held on Tuesday, March 21, 5h-6h30 pm, French time.
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ERN ITHACA Intermediary Board | Save the date
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As usual, the ERN-ITHACA Intermediary Board will take place during the ESHG Congress (Glasgow, June 10-13, 2023)
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The meeting will be held on Sunday 11, from 17h30 to 19h30. Save the date!
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Upcoming events
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- March 15-18: 5th IRDiRC Conference and 7th RE(ACT) Congress, Berlin, Germany
- March 21: ERN ITHACA Webinar on Newborn Screening
- April 20-21: EuroNDD Workshop, Amsterdam, Netherlands
- 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, UK
- June 11: ERN-ITHACA Intermediate Board, Glasgow, UK, ESHG
- September 13-16: EuroDysmorpho 2023, Lisbon, Portugal
- October 16-18: 20th Manchester Dysmorphology Conference, UK
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European News
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Rare Disease Day, February 28, 2023
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Yesterday, February 28, was Rare Disease Day! Rare Disease Day is a globally-coordinated movement on rare diseases, working towards awareness and equity in social opportunity, healthcare, access to diagnosis & therapies for people living with a rare disease.
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On this occasion, Anne Hugon from the ERN-ITHACA participated in the Romanian National Conference on rare diseases to present our network!
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EJP-RD Workshop on Genetics and Precision Medicine in Rare Diseases
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Precision medicine is an emerging approach to clinical research and patient care based on patient-individual medical data, genetic, clinical phenotype and sociodemographic characteristics to provide patient-level predictions of disease course and response to treatments options. Monogenic diabetes is an example of precision medicine success by tailoring treatment according to genetic variants.
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Besides reviewing the clinical implications of genetic diagnosis, this workshop pretends to explore in details the case of monogenic diabetes: from the genetic studies to clinical practice with the benefits of precision medicine. This model can be applied in other rare genetic diseases
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Fees: no fee & travel expenses reimbursed
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Call for collaborative clinical research on developmental disorders
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