The International Rare Diseases Research Consortium (IRDiRC) and the European Joint Programme on Rare Diseases (EJP RD) are jointly organizing a two-day conference on clinical research networks (CRNs) for rare diseases, which will take place on December 1 and 2.

The objective of this conference is to gather experts from different continents to increase mutual knowledge on CRNs structure, activities and identify pathways to stimulate collaboration and interoperability of these networks.  

It is not possible anymore to register for in-person participation. To register for online participation, please complete this registration form. 

Find more information here.

The VASCERN HTAD-WG Monthly Meeting will take place on November 28th, 2022 at 5.00 pm (Paris time).

The VASCERN HHT-WG Monthly Meeting will take place on November 25th, 2022 at 8.00 am (Paris time).

The VASCERN PPL-WG Monthly Meeting will take place on November 21st, 2022 at 5.30 pm (Paris time).

The VASCERN NEUROVASC-WG Monthly Meeting will take place on November 17th, 2022 at 5.30 pm (Paris time).

The VASCERN VASCA-WG Monthly Meeting will take place on November 16th, 2022 at 4.00 pm (Paris time).

The EURORDIS All ePAG Meeting will take place from November 14 to 17, 2022.

This will be a 4-day online event with 5 sessions. There are 2 networking sessions and 3 sessions dedicated to exploring how and why to listen to and represent your community, each lasting an hour. These sessions were inspired by a practical guide co-developed by EURORDIS and the patient community.

You can attend as many sessions as you want, and pre-registration is not required.

Access meeting links here.

See you there!

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/

The VASCERN ePAG Monthly Meeting will take place on November 8th, 2022 at 10.00 am (Paris time).

In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Rhabdoid tumors in clinic and research: From basic biology to the patient bed” aimed at discussing the current clinical standard of treatment in rhabdoid tumors, as well as the controversies in the rhabdoid tumors regimen is being organized by Dr. Pascal Johann of the Universitätsklinikum Augsburg.

The in-person event will take place on November 5th, 2022 in the Hotel Novotel at 3-5, Place des Marseillais in Charenton-le-Pont.

Registration is open here, and closes on July 31st. Those selected to participate from among the applicants will be informed by August 15th of their selection.

The workshop is open by prior registration and selection to both PhD or Master students from the life sciences and MD students or residents, although advanced-stage PIs or physicians with more extensive clinical experience are invited to join. All participants must be 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 working in small groups, each one dedicated to a specific question in rhabdoid tumor research and “inverted classroom learning”, wherein the organisors will provide publications prior to the workshop and expect participants to have gained an overview on the topics which will be discussed beforehand. In the second part of the workshop, summaries from each working group will be presented (peer-peer learning), in order for all participants to discern take home messages for each of the major topics.

More information here: https://www.ejprarediseases.org/event/rhabdoid-tumors-in-clinic-and-research-from-basic-biology-to-the-patient-bed/

The VASCERN MSA-WG Monthly Meeting will take place on November 3rd, 2022 at 5.00 pm (Paris time).

SAVE THE DATE! The CMTC-OVM (Cutis Marmorata Telangiectatica Congenita and Other Vascular Malformations) association invites you to their Global members’ conference & 25th anniversary that will take place on 28 – 29 October 2022 in the Netherlands.

More information and registration here.

The VASCERN HHT-WG Monthly Meeting will take place on October 28th, 2022 at 8.00 am (Paris time).

The VASCERN HTAD-WG Monthly Meeting will take place on October 24th, 2022 at 5.00 pm (Paris time).

The VASCERN NEUROVASC-WG Monthly Meeting will take place on October 20th, 2022 at 5.30 pm (Paris time).

As part of the training activities proposed by the EJP RD, a 3-day training course titled “Quality assurance, variant interpretation and data management in the NGS diagnostics era” is being organised by Universitätsklinikum Tübingen, in close collaboration with EJP-RD task partners, aimed the international research community: clinicians, medical specialist, laboratory scientists (EBMG-registered), junior laboratory scientists, clinical geneticists, policy makers and assessors for laboratory accreditation, and patient representatives with a basic knowledge in biology or medicine.

The fully online event will take place from October 19th – 21th.

Registration is currently open until August, 15th 2022. As the training course is limited to 30 attendees, respondents who are not selected will be kept on a waiting list until 7 October 2022.

More information and registration here: https://www.ejprarediseases.org/event/quality-assurance-variant-interpretation-and-data-management-in-the-ngs-diagnostics-era-3/

The VASCERN VASCA-WG Monthly Meeting will take place on October 19th, 2022 at 4.00 pm (Paris time).

The VASCERN PPL-WG Monthly Meeting will take place on October 17th, 2022 at 5.30 pm (Paris time).

It is a great pleasure to invite you to the third edition of the Innovation Bootcamp in Rare Diseases (IBRD2022) congress in Brussels, which will be held on October 11th, 2022.

The target audience of this event includes all professionals involved in the prevention, treatment and diagnosis of rare diseases and orphan drug research and development, including researchers, clinicians, pharma, policy makers and patient representatives.

The program includes the following sessions:

• Tackling delay in diagnostics
• Newborn screening & improvement of prevention
• The impact of patient organisations
• Pricing of Orphan drugs and true cost of illness
• Regulatory & access challenges in orphan drugs

For more information and registration: https://congresscare.eventsair.com/innovation-bootcamp-in-rare-diseases-ibrd22/

We are pleased to announce that VASCERN DAYS 2022 will take place from 6 to 7th of October 2022 in Paris, France.

The VASCERN DAYS is an annual seminar of the network. This year, we will host 150 participants over this 2-day event including healthcare professionals from our Healthcare Provider (HCP) Full Members and Affiliated Partners, patient advocates from the VASCERN ePAG and various stakeholders representing DG SANTE (European Commission), FAVA-Multi (The French Network for Rare Vascular Diseases), EURORDIS, members of our VASCERN Registries Project team, EJP-RD, Fondation AP-HP, AP-HP Bichat Hospital , Orphanet and more!

This event is only for VASCERN Full Members, Affiliated Partners and Patient Advocates.

Don't miss live tweets throughout the event on Twitter: #VASCERNDays2022

Access the full, detailed program here

CureHHT would like to invite you to join us in Estoril, Cascais, Portugal for the 14^th HHT International Scientific Conference. We will host a Welcome Reception on September 28^th and scientific sessions on September 29-October 2nd, 2022.  The program this year will feature several outstanding keynote speakers (including Dr. Hans-Jurgen Mager), multiple cross-disciplinary sessions, extensive opportunities for presenting and viewing posters and for interdisciplinary discussions.

This normally biennial meeting is well over-due. It is the must-attend event for both established and early-stage researchers, as well as clinicians experienced in treating HHT, and those just entering the field of HHT. Basic research is the engine that drives discovery of new drugs and therapies, but it relies on constant input and feedback from clinicians. Results of clinical research provide new insights in the best ways to diagnose and treat HHT.

The meeting location is situated in the heart of the Portuguese Riviera, overlooking the bays of Estoril and Cascais, close to stunning beaches, historic fishing villages and forts. It is only a 10-minute train journey to the heart of Lisbon, one of the most charismatic and vibrant cities of Europe, and a 15-minute drive to the cooling hills of Serra de Sintra that offers picturesque landscapes and whimsical palaces and gardens. The 5-star Hotel Cascais Miragem Health & Spa offers guests an unmatched combination of culture and beauty. This is a great place for kids and families so bring everyone. The beauty and tranquility of your surroundings will only enhance the 3 and ½ days of collegial and stimulating HHT talks and poster sessions that we have planned for you!

More information and registration: http://science.hhtconference.org/

VASCERN will hold a webinar on Wednesday September 28th, 2022 from 5-6 PM (CEST) titled: Pregnancy and PGD in Vascular Ehlers-Danlos Syndrome.

It will be presented by Dr. Michael FRANK, Consultant Cardiologist from AP-HP Hôpital Européen Georges Pompidou, Paris, France (full member) of the Medium Sized Arteries Diseases Working Group (MSA-WG).

This webinar will consist of a scientific presentation followed by a question and answer session. It is directed towards patients with Vascular Ehlers-Danlos Syndrome (vEDS), but open to all interested.

Register 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/

The VASCERN HTAD-WG Monthly Meeting will take place on September 26th, 2022 at 5.00 pm (Paris time).

The VASCERN VASCA-WG Monthly Meeting will take place on August 17th, 2022 at 4.00 pm (Paris time).

The VASCERN PPL-WG Monthly Meeting will take place on September 19th, 2022 at 5.30 pm (Paris time).

The VASCERN NEUROVASC-WG Monthly Meeting will take place on September 15th, 2022 at 5.30 pm (Paris time).

The Ehlers-Danlos Society is delighted to announce the dates for the International Scientific Symposium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. This will be a hybrid event with options to join in person or virtually.

The International Consortium on Ehlers-Danlos Syndromes and Related disorders is bringing together leading experts, clinicians, and scientists in the field of the Ehlers-Danlos syndromes and hypermobility spectrum disorders for a high quality, scientific program with a focus on Translational Medicine in EDS and HSD – from Basic Science to Community.

September 14-17 is suitable for Healthcare Professionals. September 18 is suitable for members of the EDS and HSD community, their families, and caregivers. 

This event has been approved for up to 20.5 CME/CEU/CE Credits, which will be available for healthcare professionals to claim for sessions that are viewed LIVE.

Early Bird Registration pricing is available until July 1, 2022. After July 1, 2022, full registration costs will apply.

More information and registration here

Save the date for the European Academy of Dermatology and Venereology (EADV) conference themed Designing the Future of Dermatology and Venereology, which will take place in Milan, Italy and online from August 7th to 10th, 2022. This four-day event will include over 170 sessions, 600 speakers and a Patient Advocacy Booth.

For more information and registration: https://eadvcongress2022.org/registration/

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

Registration is now open for the second international patient symposium on genetic aortic and vascular conditions, which is set for Sunday, August 28, 2022, at Le Méridien Etoile in Paris, France. Registration is free but required.

Confirmed speakers include Dr. Juan Bowen, Mayo Clinic, Dr. Alan Braverman, Washington University in St. Louis, Dr. Scott LeMaire, and Baylor-St. Luke’s, Dr. Hal Dietz, Johns Hopkins, Dr. Kim Eagle, University of Michigan, Dr. Bart Loeys (VASCERN HTAD and MSA WG member), University of Antwerp (Belgium), and Dr. Shaine Morris, Texas Children’s Hospital.

Medical presentations will cover diagnosis, medical and surgical treatments, and genetics related to Marfan, Loeys-Dietz, vEDS, and other genetic aortic and vascular conditions. Attendees will have an opportunity to network with the presenters and with each other.

Please register here

The VASCERN HHT-WG Monthly Meeting will take place on August 26th, 2022 at 8.00 am (Paris time).

The VASCERN HTAD-WG Monthly Meeting will take place on August 22nd, 2022 at 5.00 pm (Paris time).

The VASCERN VASCA-WG Monthly Meeting will take place on August 17th, 2022 at 4.00 pm (Paris time).

IRDiRC has four Scientific Committees, one each for Diagnostics, Therapies, Interdisciplinary, and Regulatory aspects of rare diseases research. The Diagnostic Scientific Committee (DSC) identifies current and future bottlenecks to rare disease gene discovery, addresses challenges and roadblocks in rare disease diagnosis, and collaborates with international partners to develop tools and resources to facilitate genomic data discovery, analyses and sharing.

IRDiRC is currently looking for clinicians and experts in genetics, genomics, bioinformatics, molecular diagnostics, and biochemistry who can commit to quarterly teleconferences, a yearly face-to-face meeting, and regular committee activities, including email correspondence.

Interested candidates are invited to send their resume, biosketch and letter of motivation to scisec-irdirc@ejprarediseases.org before the 14th of August 2022.

More information about the The Diagnostic Scientific Committee (DSC) : https://irdirc.org/dsc/

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

Are you an adolescent aged from 12 to 18 interested in the themes of health, biomedical research, healthcare, and children rights?

Are you a patient with a chronic rare disease interested in getting the skills to contribute in developing and shaping research making it more suitable for children?

If yes, the free Paediatric expert patients training workshop organised by EJP-RD is for you! The event will take place in Lyon, France on July 12-15 at the iCAN Summit.

The event is free and accommodation and travel costs are fully covered.

Show your interest before July 1^st!

More information: https://www.ejprarediseases.org/expression-of-interest-to-participate-in-the-second-paediatric-expert-patients-training-workshop/

EU4Health Programme has been adopted in March 2021 with EUR 5.3 billion during 2021-27, an unprecedented level of financial commitment for a Union investment in health.

Each year a targeted consultation is launched to seek opinion of stakeholders about current and future EU health priorities and strategic orientations and on key health needs to be addressed through EU4Health annual Work Programmes, providing inputs for reflection on the Work Programme under preparation and beyond.

This webinar is the opportunity for participants to provide their input on the most burning health issues in the EU and how to address them.

For more information, click here.

You can register for this webinar here

The VASCERN MSA-WG Monthly Meeting will take place on July 11th, 2022 at 5.00 pm (Paris time).

The VASCERN NEUROVASC-WG Monthly Meeting will take place on July 5th, 2022 at 5.30 pm (Paris time).

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 has been extended to June 17th, 2022.

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

The VASCERN HHT-WG Monthly Meeting will take place on July 1st, 2022 at 8.00 am (Paris time).

We are happy to invite you to take part in a workshop addressing “Ethics and regulatory considerations for ERN Data Access Committee members”.

This workshop is jointly organised by ERICA and EJP RD and will take place online on 30th June from 10 am to 12:30 pm.

It primarily aims to train the members of the ERNs Data Access Committee members on the legal and ethical aspects to consider when examining an incoming data access request. All other interested stakeholders are welcome to join.

For more information and registration: https://www.ejprarediseases.org/ejp-rd-erica-workshop-ethics-and-regulatory-considerations-for-ern-data-access-committee-members/

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

The VASCERN HTAD-WG Monthly Meeting will take place on June 27th, 2022 at 5.00 pm (Paris time).

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

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 VASCERN NEUROVASC-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 “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/

The VASCERN PPL-WG will have a face-to-face meeting in Brussels, Belgium

The Orphan Disease Center is accepting applications for the CLA Young Investigator Award, a one-year grant to support PhDs, postdocs, medical doctors, and other early career researchers to conduct research in complex lymphatic anomalies such as Gorham Stout Disease (GSD), Generalized Lymphatic Anomaly (GLA), Kaposiform Lymphangiomatosis (KLA) and Central Conducting Lymphatic Anomaly (CCLA). International applicants are invited to submit proposals in any field of lymphatic research.

Deadline: 3 June

The awardee will conduct the proposed research project under the supervision of a scientific mentor. There are up to two awards available.

Applicants must have a PhD, MD, or MD/PhD or equivalent degree, and must not hold a position higher than Instructor

More information here

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

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

The VASCERN NEUROVASC-WG Monthly Meeting will take place on May 12th, 2022 at 5.30 pm (Paris time)

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

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/

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

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/

The Montalcino Aortic Consortium seeks to improve clinical outcomes of individuals with
heritable thoracic aortic disease through this large international collaboration of medical
professionals. The goal of this meeting is to define gene-based treatment guidelines from
MAC achievements so far and prioritize research questions, using the infrastructure of
MAC, to be addressed by the consortium over the next few years.

https://www.montalcinoaorticconsortium.org/

C4c is hosting an online webinar on 28th April from 6pm to 7:30 pm CET.

This webinar is open to all patients and patient representatives who are interested in finding out more about the c4c project and how to get involved in it!

To attend this webinar – register here!

The main objective of this webinar is to explain how patients have been engaged within the c4c project, further opportunities for engagement, and to share experiences and feedback with the participants.

To find out more about the work c4c is doing to involve patients click here.

The webinar will be in English and will be recorded and published on the c4c website.

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

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

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

The MOOC (Massive Open Online Course) "Diagnosing Rare Diseases: from the Clinic to Research and back" co-developed by EJP RD, ERN Ithaca, ERN GENTURIS and the French Foundation for Rare Diseases is open continuously for enrollment

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

Facilitation will be guaranteed till July 3rd, 2022 by the mentoring team.

Registration is free and open at this link.

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

The VASCERN ePAG Monthly Meeting will be taking place on April 12th 2022 from 10 am to 11:30 am (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 MSA-WG Monthly Meeting will take place on April 7h, 2022 at 5.00 pm (Paris time).

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

In the context of EJP RD’s ERN Workshops, an in-person workshop titled "Trans-ERN Working Group for Spina Bifida (Spinal Dysraphism): Workshop for future research on innovative diagnostics and interdisciplinary treatment" aimed at sharing participants' expertise on research in different areas of spinal dysraphism and opening the way to new research projects is being organised by Centre de Référence Spina Bifida – Dysraphismes C-MAVEM, Centre Hospitalier Universitaire de Rennes.

The face-to-face event (in-person on site) will take place over two days on March 31st – April 1st, 2022 at the Centre Hospitalier Universitaire de Rennes in Rennes, France.

The workshop is open by prior registration and selection to geneticists, fetal medicine experts, neurosurgeons, rehabilitation medicine specialists, pediatric and adult urologists, pediatricians who are employees of or affiliated to an ERN-Full Member or affiliated Partner institution. 

The training workshop is free of charge. The workshop will consist of interactive presentations and discussions on different areas of interest.

Registration closes on January 28th, 2022 and those selected to participate from among the applicants will be informed by February 15th, 2022 of their selection.

More information and registration here: https://www.ejprarediseases.org/event/trans-ern-working-group-for-spina-bifida-spinal-dysraphism-workshop-for-future-research-on-innovative-diagnostics-and-interdisciplinary-treatment/

VASCERN will hold a webinar on Wednesday March 30th, 2022 from 5:30pm to 6:30pm (CET) entitled: HHT and nosebleeds.

Presenters include  members of the Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG):Professor Anette Kjeldsen, Dr. Freya Droege, Dr. Ruben Hermann, Professor Urban Geisthoff, Claudia Crocione (ePAG Co-Chair for HHT) and Christina Grabowski (ePAG Deputy Co-Chair for HHT).

This webinar will consist of a scientific presentation followed by a question and answer session. It is directed towards patients with Hereditary Haemorrhagic Telangiectasia (HHT), but open to all interested.

Register here

The VASCERN HTAD-WG Monthly Meeting will take place on March 28th, 2022 at 5.00 pm (Paris time).

The VASCERN HHT-WG Monthly Meeting will take place on March 25th 2022 at 8.00 AM (Paris time).

The VASCERN PPL-WG Monthly Meeting will take place on March 21st, 2021 at 5:30 pm (Paris time).

The VASCERN VASCA-WG Monthly Meeting will take place on March 16 th , 2022 at 4:00 pm (Paris time)

The VASCERN MSA-WG Monthly Meeting will be taking place on March 14th, 2022 at 5 pm (Paris time).

The VASCERN NEUROVASC-WG Monthly Meeting will take place on March 10th, 2022 at 5.30 pm (Paris time)

The VASCERN ePAG Monthly Meeting will take place on  March 8th, 2022 from 10 am to 11:30 am (Paris time).

In the context of EJP RD’s ERN Workshops, a hybrid workshop on “contemporary outcome measures in neuromuscular diseases” aimed at understanding the advancement of technologies with digital outcome measures in neuromuscular diseases is being organised by Prof. Sabrina Sacconi of University Hospital Nice.The hybrid event (in-person on site and online by videoconference) will take place over two days on:

March 4th – 5th, 2022 at the University Hospital Nice, Pasteur 2 Hospital in Galet, Nice, France.The workshop is open by prior registration and selection to different target groups, especially those who want to deepen their knowledge in clinical outcomes measures and innovative digital outcomes, consisting of researchers and clinicians affiliated to an ERN Full Member or Affiliated Partner Institution, physiotherapists and students.
The training workshop is free of charge. The workshop will consist of both presentations by experts in the field of neuromuscular diseases as well as interactive panel discussions and quiz sessions to train participants in performing and interpreting various outcome measures.
Registration closes on January 10th, 2022 and those selected to participate from among the applicants will be informed by January 14th, 2022 of their selection.

More information and registration here: https://www.ejprarediseases.org/event/contemporary-outcome-measures-in-neuromuscular-diseases/

VASCERN will participate in the the international rare disease day on the 28th February.

More information on :  https://www.rarediseaseday.org

The VASCERN HTAD-WG Monthly Meeting will take place on February 28th, 2022 at 5.00 pm (Paris time).

The VASCERN HHT-WG Monthly Meeting will take place on February 25th 2022 at 8.00 AM (Paris time).

VASCERN will hold a webinar on Thursday February 24th, 2022 from 5pm to 6pm (CET) entitled: VASCERN Webinar: Aortic surgery in Marfan syndrome (and other HTADs): What can patients do before and after surgery to improve the outcome and what to expect after surgery. 

Presenters include Professor Klaus KALLENBACH, cardiac surgeon from Centre Hospitalier de Luxembourg, Luxembourg (Affiliated Partner member) and members of the Heritable Thoracic Aortic Diseases Working Group (HTAD WG), and Margit ASCHENBRENNER, Patient Advocate for the HTAD ePAG (Marfan Initiative Österreich).

This webinar will consist of a scientific presentation followed by a question and answer session with questions collected from the HTAD patient community. It is therefore directed towards patients with Marfan syndrome  and other HTADs, but open to all interested.

Register here

The VASCERN PPL-WG Monthly Meeting will take place on February 21st, 2021 at 5:30 pm (Paris time).

The VASCERN VASCA-WG Monthly Meeting will take place on February 16 th , 2022 at 4:00 pm (Paris time)

The VASCERN MSA-WG Monthly Meeting will be taking place on February 14th, 2022 at 5 pm (Paris time).

The VASCERN NEUROVASC-WG Monthly Meeting will take place on February 10th, 2022 at 5.30 pm (Paris time)

The VASCERN ePAG Monthly Meeting will be taking place on February 8th, 2022 from 10 am to 11:30 am (Paris time).

The eleventh edition of the Black Pearl Awards will take place online on Tuesday, February 8th, 2022 from 18:00 until 19:30 CET and will bring together persons living with a rare disease, patient advocates, policy makers, scientists, healthcare professionals, industry representatives, and more.

This event celebrates the inspirational qualities of people living with a rare disease along with those who go that extra mile to make a difference to their lives. VASCERN is proud to be an official Outreach Partner of this special event.

Registration for the Online Ceremony is now open! Register for free here

More information on the event page here

VASCERN will hold a webinar on Tuesday February 1st, 2022 from 6-7 PM (CET) entitled: Diagnostic and Management Pathway for Capillary Malformations with Dr. Eulalia BASELGA TORRES, Pediatric Dermatologist from Hospital Sant Joan De Déu, Barcelona, Spain.

This will be the the fourth and final of four webinars exploring the Patient (Diagnostic and Management) Pathways created by the Vascular Anomalies Working Group (VASCA WG).

This webinar, that will consist of a scientific presentation followed by a question and answer session, will be primarily directed towards physicians who would like to learn more about these pathways in order to improve their knowledge on these rare vascular anomalies – but all interested participants are welcome to attend!

Register here

The VASCERN HHT-WG Monthly Meeting will take place on January 28th 2022 at 8.00 AM (Paris time).

The VASCERN HTAD-WG Monthly Meeting will take place on January 24th, 2022 at 5 pm (Paris time).

Save the date: The Marfan Foundation's Spanish Marfan, Loeys-Dietz and VEDS summit (CUMBRE DE LA FUNDACIÓN MARFAN: Información educativa sobre Marfan, Loeys-Dietz, VEDS y condiciones relacionadas para pacientes y familias) will take place online on Saturday, January 22nd, 2022 from 8:30AM-5PM.

VASCERN is proud to be Community Partner of this event. VASCERN members from the Heritable Thoracic Aortic Disease (HTAD WG) Dr. Arturo EVANGELISTA, from Hospital Universitari Vall d'Hebron in Barcelona Spain, and Dr. Laura MUINO MOSQUERA, from Ghent University Hospital in Ghent, Belgium, will be presenters at this event, which will be entirely in Spanish.

Learn more and REGISTER HERE

See the save the date flyer in Spanish here

VASCERN will hold a webinar on Thursday January 20th, 2022 from 5pm to 6pm (CET) entitled: Diagnostic and Management Pathway for Venous Malformations with Professor Laurence BOON, plastic and reconstructive surgeon from Cliniques universitaires Saint-Luc, Brussels, Belgium.

This will be the the third of a series of four webinars exploring the Patient (Diagnostic and Management) Pathways created by the Vascular Anomalies Working Group (VASCA WG).

This webinar, that will consist of a scientific presentation followed by a question and answer session, will be primarily directed towards physicians who would like to learn more about these pathways in order to improve their knowledge on these rare vascular anomalies – but all interested participants are welcome to attend!

Register here

The VASCERN VASCA-WG Monthly Meeting will take place on January 19 th , 2022 at 4:00 pm (Paris time)

The VASCERN PPL-WG Monthly Meeting will take place on January 17th, 2022 at 5:30 pm (Paris time).

The VASCERN ePAG Monthly Meeting will take place on  January 11th, 2022 from 10 am to 11:30 am (Paris time).

The VASCERN MSA-WG Monthly Meeting will be taking place on January 10th, 2022 at 5.00 pm (Paris time).