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June 2022
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ERN-ITHACA Projects
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Special Annoncement: European Meeting on Phelan-McDermid syndrome
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In 2020 a European consortium on Phelan-McDermid syndrome (PMS) started to write a best practice clinical guideline supported by the European Reference Network on neurodevelopmental disorders ERN-ITHACA. The consortium consists of over 70 members, representing 15 European countries and including 11 patient representatives. The group had their first online meeting in October 2020 and currently the guideline is nearing its completion. While working on the guideline, knowledge gaps were identified as well as the need for a European database enabling the collection of more data on the natural history of PMS, especially on the often observed mental health problems.
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The consortium now is going to meet face-to-face in order to discuss the guideline recommendations and to strengthen the collaboration in order to tackle the knowledge gaps that we identified, as well as to discuss how best to proceed with the database. Most importantly, we are looking forward to discussions with our patient representatives who are invited to present their views early in the meeting programme.
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The meeting will be hosted by the centre of expertise for PMS of the UMC Groningen, Netherlands, member of ERN-ITHACA and this Networking event has received funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575.
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The outcomes of the meeting will be:
– a strong collaboration between different European research groups and centres of expertise for Phelan-McDermid syndrome
– insight in the needs of the patient representatives and strengthen their participation in research- a priority list of knowledge gaps that need to be studied
– consensus on the variables to be collected in the European PMS database
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EURODYSMORPHO | Deadline Extended
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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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This year's edition will be held in Barcelona on the 14,15,16 and 17 of September 2022.
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For more information, please visit our website or write to us at coordination@ern-ithaca.eu.
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ERN ITHACA WEBINAR #4 "ePAGS & ERN-ITHACA"
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The ERN-ITHACA is organising a webinar to discuss the role of European Patient Advocacy Groups (ePAGs) in its daily functioning. Our ePAGs represent the voice and interests of the patient community and act as the bridge between patients and the ERN. This workshop is dedicated to ERN Members who wish to know more about ePAGS and to ePAGs themselves who seek to learn about how and why to get involved in the ERN.
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The workshop will be held on Tuesday, June 21st from 17h to 18h30.
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ERN Exchange Program
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Since its post-Covid resumption last April, the ERN Exchange program has been very successful. Join the program as well and visit another ITHACA Center for a few days or a few weeks to further your knowledge in such syndrome, treatment, etc. Clinician or other healthcare professional, junior trainee or senior expert, you are eligible for the program!
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Accommodation and travel expenses are fully covered and participants are given a daily allowance throughout their visit.
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For any questions, please contact us at coordination@ern-ithaca.eu.
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ESHG Congress | Board meeting, Eurodysmorpho Workshops & ERNs talk
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Don't forget either about the two dysmorphology workshops which will be held both online and onsite on Sunday 12 June, from 14h15 to 15h45 (W02 Dysmorphology 1) and on Monday 13 June, from 14h00 to 15h30 (W09 Dysmorphology 2).
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We would also like to point out that the ESHG will host a meeting dedicated to ERNs entitled "ERNs: more than just a Wish" on Monday, June 13, from 14h00 to 15h30. The ERN-ITHACA is not part of this initiative thought it certainly stirs our interest! Maybe we will see some of you there? Details and program overview of the meeting can be found in this document.
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APOGeE Text Book | Campaign for authors
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The APOGeE textbook is still looking for authors. APOGeE (A Practical Online Genetics e-Education) is a free online textbook to be written by authors from the ITHACA network and other ERNs. Its topic covers biological genetics, formal genetics, a clinical and physiological approach to genetic diseases, precision medicine, and treatment of genetic diseases.
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If you want to participate in its creation, please have a look at this provisional table of contents and fill in this online form to indicate the chapter(s) you would like to work on.
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We encourage you to share these links around you, to professors or researchers that might be interested.
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European News
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European conference on Orphan Products and Rare Disease | Register now!
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The ECRD is recognised globally as the largest, patient-led rare disease policy event in which collaborative dialogue, learning and conversation take place, forming the groundwork to shape goal-driven rare disease policies and allow for important and innovative discussions on a national and international level to take place.
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Leading, inspiring and engaging all stakeholders to take action, the Conference is an opportunity to network and exchange knowledge with over 1500 stakeholders in the rare disease community – patient advocates, policy makers, researchers, clinicians, healthcare professionals, healthcare industry representatives, academics, payers, regulators and Member State representatives.
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The next ECRD will take place fully online from 27 June to 1 July 2022. You can register via this link: ECRD | Online registration.
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SAVE THE DATE: RE(ACT) Congress & IRDiRC Conference
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EJP RD is pleased to announce that the next edition of the 7th RE(ACT) Congress and 5th IRDiRC Conference will be held in person in Berlin, Germany from March 15th – 18th, 2023.
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The joint event “RE(ACT) Congress and IRDiRC Conference 2023” aims to bring together scientific leaders and experts and young scientists from various breakthrough scientific fields to present cutting-edge research, exchange ideas, and discuss rare diseases research policies. Patients and patient organizations committed to research will also be in attendance to share their experiences and perspectives.
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The RE(ACT) Congress and IRDiRC Conference 2023 represents an exciting program with outstanding speakers and an in-person event with multiple ways of networking!
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We look forward to welcoming you to Berlin in March 2023. More information here:
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Call for collaborative clinical research on developmental disorders
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