Newsletter #56 - March 2022

VASCERN's VASCA will have a face-to-face meeting in Brussels, Belgium.

The VASCERN MSA-WG Monthly Meeting will take place on April 7h, 2022 at 5.00 pm (Paris time).

As part of the training activities proposed by EJP RD, an online training course on “Training on strategies to foster solutions of undiagnosed rare disease cases” is being organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP RD partners.
The online event will take place over three days from on April 11th – 13th.
Through the presentation of sample use cases that have long eluded diagnosis, the course will provide participants with with useful tools, instruments and knowledge on novel strategies to foster solutions of undiagnosed rare diseases cases. Moreover, the course will facilitate networking among professionals involved in undiagnosed rare conditions.
The course is open to the international research community, to clinicians and to medical specialists who have experience and concrete interest in the diagnosis and research on rare diseases.
To ensure active participation and exchange with teaching staff and participants, a maximum of 30 attendees will be admitted.
Registration is mandatory and is currently open. Registration closes on March 6th.
More information and registration here: https://www.ejprarediseases.org/event/training-on-strategies-to-foster-solutions-of-undiagnosed-rare-disease-cases-2/

The VASCERN ePAG Monthly Meeting will be taking place on April 12th 2022 from 10 am to 11:30 am (Paris time).

The VASCERN NEUROVASC-WG Monthly Meeting will take place on April 14th, 2022 at 5.30 pm (Paris time).

The third run of the MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” co-developed by the European Joint Programme on Rare Diseases, ERN Ithaca, ERN Genturis and the Foundation for Rare Diseases will start on April 18th. Registrations are free and open at this link. 

We specifically encourage medical and biomedical science students to register and follow the MOOC. 

You can check the syllabus here.

The VASCERN PPL-WG Monthly Meeting will take place on April 18th 2022 at 5.30 pm (Paris time).

The VASCERN VASCA-WG Monthly Meeting will take place on April 20th, 2022 at 4.00 pm (Paris time).

The VASCERN HHT-WG Monthly Meeting will take place on April 22nd, 2022 at 8.00 am (Paris time).

VASCERN's HTAD WG will have a face-to-face meeting in Paris, France

In the context of EJP RD’s ERN Workshops, a face-to-face workshop on “Endocrine cancer: A challenge in adults and children” aimed at giving an update on the molecular background and clinical management of rare endocrine malignancies is being organised by Prof. Barbara Jarzab of the M. Sklodowska-Curie National Research Institute.

The in-person event will take place on May 4th, 2022 at the M. Sklodowska-Curie National Research Institute in Gliwice, Poland.

The workshop is open by prior registration and selection to endocrinologists, oncologists, surgeons, radiotherapists, internists and pediatricians, pathologists, radiologists, nuclear medicine specialists who are employees of affiliated to an ERN Full Member or affiliated Partner institution. 
The training workshop is free of charge.  Travel and hotel expenses will be reimbursed for all selected (max 20) ERN participants. Lunch and dinner will be provided on site for all participants.

Registration closes on January 28th, 2022 and those selected to participate from among the applicants will be informed by February 28th, 2022 of their selection.

More information and registration here: https://www.ejprarediseases.org/event/endocrine-cancer-a-challenge-in-adults-and-children/

VASCERN's MSA working group  will have a full day of Webex meeting.

As part of the EJP RD Training series, an advanced-level training webinar on the topic “Composite endpoints including patient relevant endpoints (Quality of Life)” aimed at introducing the generalized pairwise comparison ideas and concepts as well as demonstrating its benefit in small sample trials, more particularly in including patient relevant endpoints, such as quality of life (QoL), is being organized by Universitaetsklinikum Aachen (Germany), Istituto Ortopedico Rizzoli IRCCS (Italy) and Assistance Publique Hôpitaux de Paris (France).

The training webinar will be held on May 6th from 16.00 – 18.30 CET.

The training consists of two parts: a 1.5-hour training in relatively recent statistical inference with the flexible class of generalized pairwise comparison tests for multiple endpoints, followed by 1 hour of panel discussion with experts from regulatory, pharma-industrial, academic, and clinical fields. The event is open to the international research community, clinicians, medical specialists, healthcare professionals and advocacy patient groups with knowledge of rare disease Clinical Trials.

The training is free, and registration is mandatory. Registration closes on May 2nd.

For more information and registration: https://www.ejprarediseases.org/event/composite-endpoints-including-patient-relevant-endpoints-quality-of-life/

The International Society for the Study of Vascular Anomalies (ISSVA) will be hosting the ISSVA World Congress 2022 (formerly the Workshop) from May 10-13th 2022 in Vancouver, Canada.

The ISSVA World Congress 2022 will provide the opportunity to learn through a multi-disciplinary approach and will be attended by a wide array of specialists such as intervention radiologists, dermatologists, plastic surgeons, ENT surgeons, pediatricians, pediatric surgeons, oncologists, pathologists... and more! As usual, many members of the Vascular Anomalies (VASCA) WG will be in attendance at this international event.

More information here

It’s a magical feeling, from the United States across the sea in Europe, down under in Australia and beyond - we are all connected. This is our 3rd Global Walk for Victory, and we are stronger and more united then ever!

We hope you will join our virtual international program which brings the Marfan, Loeys-Dietz (LDS), Vascular Ehlers-Danlos (VEDS), and related conditions community together across the globe. The support of Walk participants and donors helps to ensure a better life for everyone with genetic aortic and vascular conditions.

This high-energy virtual party will include interactive games, guest speakers, opportunities to connect with community members, and more! So, get your team registered, invite your friends and family to support the mission of The Marfan Foundation by donating to your page, and get ready to celebrate with us on May 14!

Thank you to our Walk Leadership!
Medical Chairs:
North America Chair – Dr. Mary Sheppard, UK Healthcare (Kentucky)
European Chair – Dr. Guillaume Jondeau Hopital Bichat (Paris)
Community Chair:
Betcy Mattarita

For more information, contact Meredith Mischner at mmischner@marfan.org.

Register today :  https://give.marfan.org/event/2022-global-virtual-walk-for-victory/e374568

HHT working group members will meet at hopital "femme mère enfant"  Lyon, France, for the annual face to face meeting.

In the context of EJP RD’s ERN Workshops, a face-to-face workshop on “Translational research on bone impairment in rare diseases” aimed at giving an update on translational research on bone impairment in rare diseases and bringing together experts and trainees to facilitate collaborations is being organised by Justine Bacchetta of the Faculty of Medicine of Lyon.

The in-person event will take place over two days on June 9th – 10th at the Faculty of Medicine of Lyon in Lyon, France.

The workshop is open by prior registration and selection to senior scientists, senior physicians, postdocs, medical fellows, and PhD students who are employees of or affiliated to an ERN Full Member or affiliated Partner institution. 

The training workshop is free of charge and consists of interactive presentations and discussions on different areas of interest. On the second day, a “meet the experts” session will encourage small group talks, exchanges, and networking.

Registration closes on March 27th, and those selected to participate from among the applicants will be informed by April 4th of their selection.

More information and registration here: https://www.ejprarediseases.org/event/ejp-rd-ern-workshop-translational-research-on-bone-impairment-in-rare-diseases/

In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Functional exploration of genetic variants in cardiac diseases” aimed at presentation of functional explorations of variants of interest identified using Drosophila, C. elegans, Zebrafish and iPSc models to understand the molecular bases of genetic diseases, in particular heart and muscle diseases, is being organised by Philippe Chevalier of the Hospices Civils de Lyon.

The in-person event will take place over two days on June 14th – 15th at the Hospices Civils de Lyon in Lyon, France.

The workshop is open by prior registration and selection to cardiologists, molecular biologists, post-docs, medical fellows, and PhD students and who are employees of or affiliated to an ERN Full Member or affiliated Partner institution.

The training workshop is free of charge and consists of interactive presentations and discussions.

Registration closes on May 1st, and those selected to participate from among the applicants will be informed by May 9th of their selection.

More information and registration here: https://www.ejprarediseases.org/event/ejp-rd-ern-workshop-functional-exploration-of-genetic-variants-in-cardiac-diseases/

The 70th International Congress of the European Society for CardioVascular and Endovascular Surgery (ESCVS) and for the 7th International Meeting on Aortic Diseases (IMAD) will take place in Leige, Belgium from June 20-23rd, 2022.

Call for Abstracts are open until the March 15th, 2022

Submit your abstract to the 70th ESCVS congress here

Submit your abstract to the 7th IMAD here

More info here

The ECRD is recognised globally as the largest, patient-led rare disease policy event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape goal-driven rare disease policies and allow for important and innovative discussions on a national and an international level to take place.

Leading, inspiring and engaging all stakeholders to take action, the Conference is an unrivalled opportunity to network and exchange invaluable 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.

The next ECRD will take place fully online from 27 June to 1 July 2022.

This 11th edition follows a pivotal two-year Rare 2030 Foresight Study, supported by the European Parliament and European Commission, that guided a large-scale and multi-stakeholder reflection on rare disease policy in Europe through 2030.

The concluding recommendation of Rare2030 was the need for a new European policy framework on rare diseases with measurable and actionable goals. Current actions at Member State level alone, or legislative changes in specific areas are not enough. We need a new European collective strategy for rare diseases to bring Member States’ commitment to rare diseases under a common umbrella and mark a step forward in the post-COVID world.

This ECRD will be a critical opportunity for all stakeholders to consider how to transform this exhaustive review of the strategy on rare diseases into a proposal of concrete actions ultimately creating the ecosystem required to address the unmet needs and persisting inequalities across Europe.

Poster abstracts submissions for the ECRD 2022 are now open until 31st March 2022.

Submit your abstract here: https://www.rare-diseases.eu/posters/

More information on: https://www.rare-diseases.eu

In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Modelling & Simulation: Research Methodologies for Small Populations in Rare Diseases” aimed at facilitating discussion and exchange of knowledge on the M&S methodologies and strategies as innovative and promising enough for facing complex multifactorial or rare diseases and conditions that require highly specialised treatments and resources is being organised by Donato Bonifazi of the Consorzio per Valutazioni Biologiche e Farmacologiche (CVBF).

The in-person event will take place over two days on July 4th – 5th at the Hotel Excelsior in Bari, Italy.

The workshop is open by prior registration and selection to PhD students, post-doc researchers, senior scientists, young clinicians, investigators and academics and who are employees of or affiliated to an ERN Full Member or affiliated Partner institution.

The training workshop is free of charge and the training methodology will be based on lectures, seminars, and practical sessions, aimed at providing concrete research skills.

Registration closes on May 10th, and those selected to participate from among the applicants will be informed by May 23rd of their selection.

More information and registration here: https://www.ejprarediseases.org/event/modelling-simulation-research-methodologies-for-small-populations-in-rare-diseases/

Save the Date: THE MARFAN FOUNDATION's What’s New in Genetic Aortic and Vascular Conditions - An international educational meeting for affected people and their families that was planned to take place Sunday April 24th, 2022 in Paris, France has been postponed and will now take place on Sunday August 28th, 2022.

VASCERN members will be presenting at this event including Professor Bart Loeys (HTAD and MSA WG member).

Registration coming soon.

Save the date for the Marfan Foundation's Science in Paris event which will take place in Paris, France from August 29th-September 1st, 2022. This four-day meeting will feature three separate, but connected, meetings which aim to enhance collaboration and discovery to ultimately benefit patients and families. These meetings are:

• August 29, 2022 - DEFY Foundation 5th Scientific Meeting on Vascular Ehlers-Danlos Syndrome
  Registration for this meeting is free, thanks to generous support from the DEFY Foundation
• August 30-31, 2022 - 11th International Symposium on Marfan, Loeys-Dietz, and Related Conditions
  (Aortic Summit Poster Session)
• September 1, 2022 7th  - GenTAC Aortic Summit

Registration opens on April 1st, 2022.

For more information read the event's brochure here

As part of the training activities proposed by EJP RD, the International Summer School on Rare Disease Registries and FAIRification of Data is a 5-day training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP-RD task partners, aimed at the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and rare disease patients’ representatives.

The in-person training will take place from September 26th – 30th at ISS in Rome, Italy. The training course may be adapted to an online format in case of uncertainty due to the evolution of the Covid-19 pandemic, or of other adverse conditions that might occur.

The training course consists of two modules, and registration is possible for either module separately or for the course as a whole:

• “Rare Disease Registries”, September 26th – 28th
• “FAIRification of Data”, September 29th – 30th

Registration is currently open but will close on April 13th. As each training module is limited to 30 attendees, those chosen to participate from among the applicants will be informed by May 3rd, with a reserve list open until May 20th (if the training is delivered face-to-face) or September 9th (in case of online delivery).

More information and registration here: https://www.ejprarediseases.org/event/international-summer-school-on-rare-disease-registries-and-fairification-of-data/

VASCERN DAYS 2022 will be held from 6 to 7th of October 2022 in Paris, France.

More information to come soon.

As part of the training activities proposed by EJP RD, an international course entitled “Training for patient representatives and advocates on leadership and communication skills” is a 2-day training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP-RD task partners, open to patient representatives involved in the 24 European Reference Networks (ERNs), including members of the European Patients Advisory Groups (ePAGS), and other RD patient advocates.

The in-person training will take place from November 10th – 11th at ISS in Rome, Italy.

The training course may be adapted to an online format in case of uncertainty due to the evolution of the Covid-19 pandemic, or of other adverse conditions that might occur. In case of face-to-face delivery, the organisers have foreseen

• hotel accommodation for all selected participants
• 4 travel and accommodation fellowships for participants living and working in an EU-13 Country or in Turkey.

Registration is currently open but will close on April 13th. The training is limited to 30 attendees, those chosen to participate from among the applicants will be informed by May 3rd, with a reserve list open until May 20th (if the training is delivered face-to-face) or September 9th (in case of online delivery).

More information and registration here: https://www.ejprarediseases.org/event/training-for-patient-representatives-and-advocates-on-leadership-and-communication-skills/