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ERN-ITHACA Projects
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ERN-ITHACA Guideline on Phelan-McDermid syndrome - new publication on ERN-ITHACA website!
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In 2020, the Guidelines working group of the European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) established an international Consortium of professional and lived experience experts representing 14 European countries, in order to write a European consensus guideline for Phelan-McDermid syndrome (PMS).
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PMS is a neurodevelopmental disorder caused by a deletion 22q13.3 a pathogenic variant in the gene SHANK3 that is located at 22q13.3. The aim of the guideline is to provide recommendations for resolving the bottlenecks experienced in practice and to achieve more uniform and better-coordinated care for individuals with Phelan-McDermid syndrome.
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Patient representatives were involved in the selection of topics and participated in writing the guideline. The recommendations are based on a careful weighing of the latest scientific insights and expert opinion. The guideline supports clinical decision-making of healthcare professionals involved in the care of children and adults with PMS, while also providing transparency to patients, parents and caregivers.
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Information meeting on new ERN-ITHACA call for ePAG candidates
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A new call for European Patient Advocacy Groups (ePAGs) to join the ERN-ITHACA will be open on June 15. You represent a Patient Organisation within the scope of rare malformative syndromes & rare neurodevelopmental disorders and would like to find out more about our network and its Patient Advisory Board? Come meet with us online on June 8!
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Date: June 8, 16:00-17:00 CEST
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Link to the online meeting HERE.
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ERN-ITHACA draft evaluation report
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Dear ERN-ITHACA Members,
We have just received the draft evaluation report for the ERN ITHACA, and it came back with very positive reviews! Thank you to everyone that participated in the process and please note that you will receive the HCP individual reports in the beginning of June.
The draft evaluation report of ERN ITHACA can be downloaded HERE.
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Upcoming events
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- June 1-2: Kleefstra Syndrome Scientific Conference 2023, Slovenia & online
- June 4-6: Trans-ERN Workshop on Fetal and Postnatal multidisciplinary management in RD (Myelomeningocele and LUTO), Krakow, Poland
- June 8: Information meeting on new ERN-ITHACA ePAGs Call, online
- June 9-11 : II European Conference on Phelan-McDermid Syndrome, Madrid & online
- 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
- September 14-15: SSBP International Research Symposium, online
- 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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Solve-RD Statement: Time to Act - Improving rare disease diagnosis and solving the unsolved rare disease through collaboration in Europe
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The Solve-RD consortium and associated European Solve-RD network, including among others six European Reference Networks, EURORDIS, Orphanet and leading European Rare Disease Clinicians and Researchers in 20 countries, call upon all European RD stakeholders, including EU Member States, the European Commission, the Council of the European Union, the general public and private organisations active in the RD field, as well as the rare disease community at large to act NOW to seize the current once-in-a-generation opportunity to significantly improve rare disease diagnosis in Europe.
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This unique opportunity is characterized by pan-European access to diagnostic technologies in particular Whole Exome Sequencing, the just reached maturity of the European Refence Networks ecosystem, the looming opportunity to share rare disease data on European-wide scale within the forthcoming European Health Data Space, the upcoming RD-Partnership as well as - with Solve-RD - the availability of a scalable transnational diagnostics research platform.
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Solve-RD has summarized the critical action points in this policy paper.
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ANGELMAN SYNDROME Alliance 2024 Grant Call
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The Angelman Syndrome Alliance (ASA) is opening its fourth biannual grant call to fund research into Angelman syndrome. Researchers of any country are invited to apply for research grants covering ‘basic science’ research that can help support a better understanding of Angelman Syndrome and eventually lead to new treatments tackling the genetic & molecular processes underlying the condition.
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Deadline for applications: 30th June 2023
Successful grant applicants notified: 1st January 2024
Grant funding period starts: 1st April 2024
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More info about the call HERE.
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ERICA WP4 Survey on ERNs and Clinical Research
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The European Rare Disease Research Coordination and Support Action consortium (ERICA) Workpackage 4 (Clinical Trials) is developping a survey to collect information on the status quo of ERNs and Clinical Research, on the basis of the previous survey delivered in 2018. The results of the two surveys will be compared to provide a more comprehensive state-of-the-art of ERNs and Clinical Research.
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The survey is addressed both to ERN Coordinators and HCP members.
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Deadline for completion: 15th June 2023
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ILAE survey on genetic testing in the epilepsies
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The International League Against Epilepsy (ILAE) is launching a survey on genetic testing in the epilepsies.
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Genetic testing continues to gain importance, however access differs significantly across healthcare settings. This survey seeks to establish the state of genetic testing worldwide. enable us to give recommendations tailored to the socio-economic situations across different countries and regions.Please complete this survey even if you currently do not have access to genetic testing as we would like to learn about any barriers to genetic testing worldwide.
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The survey is available in 5 languages HERE.
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Share your opinion: the Public Consultation on the Strategic Research & Innovation Agenda of the future European Rare Diseases Partnership now open
Under Horizon Europe, the European Commission together with member states and associated countries decided to implement the Rare Diseases Partnership which brings a unique vision that aims at leaving no one behind by supporting robust patient need-led research, by utilising and maximising the power of health and research data, by engaging and coordinating regional, national, EU and international alignment in order to accelerate the development of new treatments and diagnostic pathways. To build its strategy on the voice and input of all stakeholders and as part of the preparatory process of this future Rare Diseases Partnership (foreseen start in 2024) the Strategic Research and Innovation Agenda of the RD Partnership is now open for public consultation. We hope to gather the inputs of all types of stakeholders to make sure that the actions of the partnership will fit the needs and expectations of rare diseases community.
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Share your opinion here before 9 June 2023
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Call for collaborative clinical research on developmental disorders
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