Uniting for Rare Diseases: International Day 2024 in the spotlight

February 29, 2024, marks an important date in the global health calendar: International Rare Disease Day. This day has a crucial goal: to raise awareness and mobilize support for the millions of people affected by rare diseases across the globe. The fight against invisibility begins with knowledge and commitment, and this is what this event seeks to encourage.

A diverse program to educate and inspire

Rare Disease Day 2024 highlights the importance of raising public awareness and also celebrates innovations that are opening up new perspectives for people living with these conditions. Among these innovations, the use of messenger RNA (mRNA) technology stands out, promising advances in the treatment of genetic diseases that have so far lacked a cure, such as certain liver diseases. This method, still in the research phase, could revolutionize the way we approach therapies for rare and specific diseases.

Meanwhile, initiatives like the Danaher‑IGI Beacon for CRISPR Cures are exploring the potential of CRISPR gene editing to treat a range of rare diseases. The goal is to develop therapeutic solutions more quickly and effectively, by first addressing targeted genetic defects. These efforts illustrate the potential for CRISPR to be adapted to correct various genetic mutations, paving the way for a new era of genetic medicines.

French expertise mobilized

France is distinguished by its exceptional mobilization around International Rare Disease Day 2024, with the organization of various events highlighting national expertise in this field. The planned actions reflect the importance of patient involvement in research and care, while aiming to strengthen the links between patients, healthcare professionals, and researchers.

Examples of Events in France:

• At the Pitié Salpêtrière (Paris) , the rare disease health sectors BRAIN‑TEAM & CARDIOGEN are offering an interactive stand in search of the Rare Disease Codex on February 29, 2024. Participants will have the opportunity to discover resources on rare diseases and take part in a treasure hunt.

• In Montpellier , a morning of round tables on "Sciences and Rare Diseases" is organized, followed by a solidarity march and an associative village at the new Town Hall, closed by the show "Hépatik Girl".

• In Lille , the Rare Disease Expertise Platform PLEMaRa is organizing a rare disease village on March 9, 2024 at BTWIN Village, with entertainment stands, a round table and a circus show, illustrating the diversity of approaches to raising awareness and providing information on rare diseases.

• The Imagine Institute is partnering with the event by offering lectures and guided tours on February 29, 2024, focusing on the latest research and innovations in the field of genetic diseases. These sessions will be accessible remotely via LinkedIn and Facebook, allowing for broader participation.

These initiatives, among others organized across France, highlight a collective desire to educate, inspire, and support the rare disease community. They provide valuable spaces for the exchange of knowledge and experiences, thus contributing to the continuous improvement of rare disease care.

For more information on these events and to discover other initiatives in France, you can visit the websites of Maladies Rares Occitanie and the Cité des sciences et de l'industrie , which provide additional details and links for registration.

Focus on Europe and international markets

Beyond France's borders, Europe and the entire world are mobilizing for International Rare Disease Day 2024, reminding us, if necessary, of the importance of a global and unified approach to meeting the challenges posed by rare diseases.

In Europe:

1. European Conference on Rare Diseases (ECRD) 2024 : This event, recognized as the largest patient‑led policy gathering on rare diseases in Europe, is a little late as it will be held on May 15‑16, 2024. We wanted to mention it as well, as it offers a unique opportunity for networking and knowledge exchange among more than 1,500 participants, including patient advocates, policymakers, researchers, and healthcare professionals. .

2. Rare Disease Day 2024 Events in Europe : Coordinated by EURORDIS, Rare Disease Day sees the active participation of European institutions, such as the European Medicines Agency and the European Commission . Various events are organized across the continent to raise awareness and share the experiences and hopes of affected communities. .

In the United States:

• Rare Disease Day 2024 with NORD : The National Organization for Rare Disorders (NORD) is hosting symposia and awareness events to mark this important day. As the official U.S. partner for Rare Disease Day, NORD plays a key role in raising awareness and supporting the more than 30 million Americans living with a rare disease. .

These initiatives are crucial to advancing research, improving available treatments and supporting people with rare diseases and their families around the world.

United for the advancement of rare diseases

Community and medical engagement play a central role in Rare Disease Day, uniting the medical community, patient organizations, and researchers in a concerted effort to highlight the challenges posed by rare diseases and the critical importance of patient involvement in care and research. This collaboration aims to stimulate dynamic research, with the goal of accelerating scientific advances, overcoming diagnostic challenges, and promoting partnerships among all stakeholders.

February 29th and its associated events also serve as a platform for patient organizations to showcase their initiatives, ranging from awareness and advocacy to fundraising to support research. It's the perfect opportunity to highlight the patient voice in the development of new therapies and health policies.

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