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ERN-ITHACA Projects
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EuroDysmorpho 2023: Lisbon, September 13-16 | Save the date!
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The 33rd edition of the European Meeting on Dysmorphology, organised by the ERN-ITHACA, will be held in Lisbon, Portugal, at the Lisbon Medical Academic Center, on September 13-16. Save the date!
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With the aim to bring young clinical geneticists and trained dysmorphologists together to share their professional experiences and present their clinical challenges, Eurodysmorpho is open to any presentation in the field of human development (large series of patients or single, illustrative case reports). This year's edition will allow more presenters to take part in the meeting by submitting their abstracts for poster presentation.
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More information about the call for abstracts and registration will follow soon.
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ERN ITHACA Webinar #6 "Innovation in Newborn Screening"
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With this 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 expending 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 Call for Production of Orphanet files on Rare Diseases
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Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. It produces a series of highly-downloaded reports showcasing aggregated data covering topics relevant to all rare diseases, especially a list of rare diseases.
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Your expertise as an ERN-ITHACA Member will be of great help in updating and completing this list. Hence, as previously announced during the ERN-ITHACA Board Meeting, we would like every HCP to provide a minimum of 2 RD abstracts. Please chose your two summaries on this online document by putting down your name, ITHACA HCP, and email address. Please also be mindful that in the case of an editor who does not yet have experience in publishing on the disease, it is mandatory to have a co-author who is an expert on the subject and who will validate the text, or the head of the HCP. You will then be contacted directly by Orphanet. Thank you in advance for your precious contribution!
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ERN-ITHACA SBoD Workgroup Workshops
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On January 17-21, the ERN-ITHACA x eUROGEN Workgroup on Spina bifida and other Dysraphisms (SBoD Workgroup) gathered in Barcelona, Vall d'Hebron Hospital, for a serie of two workshops dedicated to the urological aspects of the condition and to Orphanet classification.
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Great steps have been made in the writing of a EU guideline on pediatric Spina Bifida as well as on the the validation and definition of new Orphanet codes - among other rich exchanges. These working days were completed by the visit of the new Advanced Clinical Simulation Center at Vall D'Hebron.
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EuroNDD 2023 | Closure of registration
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Registration to the EuroNDD Workshop was closed on January 31. Over 250 participants signed up for the Congress. We will soon share with everyone the definitive program for the meeting with the list of selected abstracts for oral or poster presentation.
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Upcoming events
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- March 21: ERN ITHACA Webinar on Newborn Screening
- April 20-21: EuroNDD Workshop, Amsterdam
- June 10-13: ESHG Congress, Glasgow
- June 11: ERN-ITHACA Intermediate Board, Glasgow, ESHG
- September 13-16: EuroDysmorpho 2023
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European News
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20th Manchester Dysmorphology Conference, October 16-18, 2023
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We are glad to announce the 20th Manchester Dysmorphology Conference which will take place from Monday 16th to Wednesday 18th of October 2023. Save the date!
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Information about the abstract submission process will follow soon.
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Rare Disease Day, February 28, 2023
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On February 28 will be held the 2023 Rare Disease Day. Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease
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By Sharing your colours via social media, events, illuminating buildings, monuments and homes, by sharing experiences online and with friends, by calling on policy makers and shining the light on people living with a rare disease, collectively we aim to change and improve lives of the 300 million people worldwide.
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Call for members for 4 new IRDiRC Task Forces
IRDiRC launches the Call for Members for the four new Task Forces of the 2023 Roadmap. Check out the newly approved Task Forces:
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- Funding Models to Support the Spectrum of Rare Disease Research and Development
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The overall objective of this Task Force is to identify how different types of funders make decisions about when to fund at a given stage in a treatment’s development and the factors that contribute to this process.
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More details on the candidates profiles: here.
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- Framework to assess impacts associated with diagnosis, treatment, support, and community integration
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The overall objective of this Task Force is to develop, operationalize, and test a comprehensive framework of holistic, multidimensional, and evolving life-long experiences of patients and families living with a rare disease.
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More details on candidates profiles: here.
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The overall objective of this Task Force is to create a framework for the robust and effective ecosystem of functional analyses in rare diseases.
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More details on candidates profiles: here.
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- Preparing for genetic N-of-1 treatments of patients with ultra-rare mutations
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The overall objective of this Task Force is to connect different N-of-1+ efforts to reduce duplication, achieve global consensus and create a roadmap towards development and implementation of N-of-1+ treatment.
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More details on candidates profiles: here.
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If you are interested in taking part in any of these activities please send a CV, biosketch, and letter of motivation (one paragraph each) to the IRDiRC Scientific Secretariat (scisec-irdirc@ejprarediseases.org) with the email title “TF Member Application-IRDiRC-Impacts” before 20 February 2023.
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Call for collaborative clinical research on developmental disorders
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