Recordings of the event are available here!

MARFANS, the French patient association for Marfan and related syndromes, is pleased to announce its first scientific and prospective meeting, Marfans 2035, on April 5th, 2024 which aims to learn about the main research directions in Marfan and related syndromes in the next 10 years, to exchange with researchers and clinicians, and to identify translational projects that could benefit from the support of the association.

Deadline for abstract submission : January 5, 2024 (marfans2035@gmail.com)

Confirmed speakers :

• Pr Julie de Backer, Ghent University Hospital – UZ Gent
• Pr Guillaume Jondeau, CNMR Syndrome de Marfan et apparentés, Service de cardiologie CHU Paris Nord-Val de Seine
• Dr Gisela Teixido Tura, Main researcher Cardiovascular Diseases, Vall Hebron Institut de Recerca, Barcelona
• Vivian de Waard, PhD, Associate Professor, Dept. Medical Biochemistry, Amsterdam UMC

Marfans association can actively support your research project in many ways: by bringing the patient perspective and being involved in your clinical trials and research protocols design, in helping in the administrative part of the preparation of the clinical trials applications and informed consent forms, in identifying eligible patients and facilitating recruitment, and ultimately by providing financial aid.

Should you be actively engaged in translational research projects that would that help treating,managing and reducing the symptomatic expression of the disease and benefit patients, we are pleased to invite you to submit an abstract of your presentation proposal.

Selected presentations will be in English, of 15’, and will have to outline :

• Your research goals in the next 10 years and expected outcomes for patients
• Estimated budgets for 10 years and co-financing needs
• Topics :
  • Therapeutic treatments : drug discovery and development, surgical interventions
  • Diagnostic
  • Diseases Prevention and Prediction
  • Care pathways
  • Genomics, gene therapy, etc

ECRD is the largest, patient-led, rare disease policy-shaping event held in Europe, aimed at identifying key priorities to forge a unified approach for the next EU legislative cycle.

Registration will open in December

More information on what to expect here.

Day 1: Deep dive into the EMA qualification procedure with a focus on registries – closed workshop in person and online, targeting regulators, registry holders and industry; 

Day 2: Establish the value of patient registries for regulatory decision-making – broad representation of stakeholders in person and online. To enable wide participation, some parts of the workshop will be broadcast.
More information on how to register for online participation on Day 2 will be published shortly.

Should you have any questions, feel free to contact them at emaregistries@ema.europa.eu.

More information here

Registration is open here

This year’s conference theme is ‘Duchenne Care: 5 Years After the 2018 Care Considerations (Lancet)’. Particularly, the conference will include new publications, information about the implementation of these Care Considerations in different countries. What have we learned? Top experts in the field will share their experience on specific topics of DMD and BMD care and care for women with dystrophinopathies. Additionally, attendees have the opportunity to engage with the speakers through interactive Q&A sessions.

More information here

We empowered a community that deserves to be heard.

#RAREvolution

Berlin, Germany – 24 March 2023. The seventh edition of the RE(ACT) Congress and the fifth edition of the IRDiRC Conference were held jointly in-person in Berlin (Germany) from 15-18 March 2023.  The event was organized by the BLACKSWAN Foundation in collaboration with the International Rare Diseases Research Consortium (IRDiRC) and the European Joint Programme on Rare Diseases (EJP RD). The congress was also supported by Rare Diseases International (RDI) and EURORDIS.

Approximately 150 attendees participated in the four-day congress, including scientists, physicians, patients and patient organizations, pharmaceutical, biotech, and MedTech industry representatives, start-ups,  and other international stakeholders. The congress featured world-class speakers, panelists, and participants who shared their vision, experiences, and innovative scientific research on rare diseases. The full list of speakers and panelists is available at http://www.react-congress.org/speakers/.

The congress presented the latest advancements in knowledge, understanding, and innovation in rare disease research and offered an expanded view of health systems for rare diseases. Focused sessions addressed new tools and technologies for diagnosis, progress, and challenges in advanced therapies for rare diseases, clinical research, regulatory science, and solutions to improve access. The event provided an excellent opportunity for attendees to learn about cutting-edge research and to network with other experts in the rare diseases field.
Contact information: contact@react-congress.org

The presentations are now available here: https://www.rarediseases-conference.com/history/presentations-2023/

Following the success of the previous two years and having advanced the policy agenda on both national and international level, the Organizing Committee – consisting of the Rare Diseases Greece (RDG), the umbrella organization with its 28 members that represent the rare disease community in the country, and the “95” Rare Alliance Greece – brings together all the key initiatives and stakeholders currently shaping the rare disease landscape with the aim to highlight the urgent call to action in adopting a European RD Action Plan and its implementation across Member States.

EJP RD Coordinator Dr. Daria Julkowska was a member of the Advisory Committee.

The in-person event will take place on 22-23 May 2023 at Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, in Milano, Italy.

Registration is open here, and closes on March 7th.

This workshop is addressed to physicians, researchers from ERN Full Members or Affiliated Partners from the junior to senior level.

More information here

Visit the event’s website to get updated on information that will be incoming: https://enmd-neuromuscular.eu

Register for free here

The Third International Summit on Human Genome Editing will take place on 6-8 March 2023 at the Francis Crick Institute, London UK. Building on previous events held in Washington, DC (2015) and Hong Kong (2018), this Summit will continue the important dialogue around human genome editing. It will facilitate a global discussion on somatic and germline genome editing, including developments in clinical trials and genome editing tools such as CRISPR/Cas9. Earlier this year a three-part series of online events Looking Ahead to the Third Human Genome Editing Summit discussed some of the key topics of the meeting.

Related news: Dr. Daria Julkowska, Coordinator of the EJP RD, is a member of the planning committee. More information here