OrphaNews will be back in the new year
The OrphaNews editorial team wishes all our readers a wonderful holiday season, and a happy start to 2024. The next edition of OrphaNews will be in mid-January.
Happy holidays from Orphanet!
Spotlight
EURORDIS names Virginie Bros-Facer as new CEO
EURORDIS has announced the appointment of Virginie Bros-Facer, PhD, as its new Chief Executive Officer. Following Yann Le Cam’s decision to step down as CEO, announced in September, Bros-Facer will assume responsibility of the position starting in March 2024.
Bros-Facer worked with EURORDIS previously, where she was the Scientific Director and led on project development and patient engagement in rare disease research projects. She received her PhD in neurosciences from King’s College London, UK, and has held positions in various organisations where she worked on research and patient and stakeholder engagement for rare diseases.
Virginie Bros-Facer (photo credit: EURORDIS)
Speaking of her new role, Bros-Facer said: “I am delighted to being back at EURORDIS and cannot wait to start working with the whole rare disease community to advance research, therapy development access and care.”
Orphanet congratulates Virginie Bros-Facer on her appointment, and is very glad to welcome her as a partner as we continue to collaborate with EURORDIS towards improving the lives of the rare disease community.
ERN News
ITHACA survey on new guideline topics
The ERN ITHACA is conducting a survey on the development of their new guidelines. They are asking a range of stakeholders to suggest topics for which they think a new guideline would be useful. This can be a specific condition, or a broader shared health problem which occurs in multiple conditions. As part of the same survey, they are also seeking feedback on the criteria which will be used to select topics for guideline development.
ITHACA calls for collaboration
The ERN ITHACA regularly publishes calls for collaboration from clinicians. These calls increase the amount of data research projects are able to draw on, thereby fostering more robust findings. Some of the most recent calls include “Electroclinical phenotypes associated with PIGU gene” and “Deep phenotyping and natural history of WARS2-related disorder (particularly dystonia-parkinsonism).” For more information, click here.
GUARD-Heart survey on access to drugs for arrythmia
The ERN GUARD-Heart, in partnership with the European Heart Rhythm Association and the Association for European Paediatric and Congenital Cardiology, is conducting a survey on the accessibility of drugs for arrythmia. People are invited to state and comment on issues they have experienced while accessing such drugs. The aim of the survey is to establish the current state of problems of accessibility at the European level, in order to better address them in both national and European frameworks.
New publications by GUARD-Heart members
Recently, members of the ERN GUARD-Heart have published several new articles on topics related to ERN activities. Ranging from pharmacological and surgical interventions to a consensus statement on preventive medicine, these articles demonstrate the knowledge that the ERNs can help generate.
Orphanet News
Submit your poster abstract for ECRD 2024
We are thrilled to announce that the European Conference on Rare Diseases (ECRD) 2024 is now accepting poster abstract submissions. This conference, organised by EURORDIS and co-organised by Orphanet, is an excellent opportunity for patient groups, academics, healthcare professionals, and others involved in rare disease research or public health projects to contribute and share their insights.
Submission Guidelines
Submissions should be in English and limited to 300 words. Participants can be co-authors of multiple poster abstracts, but only the representing author of one. Additionally, representing authors of accepted posters must register to attend ECRD 2024, either onsite or online, to ensure their posters are displayed. We also accept posters that have been presented at other events.
Accepted Posters
All accepted posters will be available on the ECRD 2024 virtual platform, facilitating interaction, Q&A sessions, and networking. The top three posters will receive an award, and selected authors will have the chance to present their work live during the conference. Furthermore, authors of the top 40 posters will be invited to submit their abstracts for publication in a special edition of the Orphanet Journal of Rare Diseases (OJRD).
Selection Process
The ECRD 2024 Poster Committee will review submissions in March, and notifications will be sent by the month's end. Posters will be evaluated based on relevance to rare diseases, quality of content, originality, and practical application. It's important to note that while we encourage scientific contributions, posters must align with the conference's focus and themes. Case reports will not be accepted.
Disqualification Criteria
Submissions promoting commercial products, not adhering to the guidelines, submitted after the deadline, or through incorrect channels will be disqualified.
This is your chance to be part of a vital conference in the rare diseases community. Don't miss the opportunity to share your work, connect with peers, and contribute to advancing knowledge and practices in this field.
For more information or any queries, please visit the ECRD website or contact the ECRD support team.