Rare Disease Day 2024: What IRDiRC member organizations are up to?

Join us in spreading awareness this Rare Disease Day.
The International Rare Diseases Research Consortium (IRDiRC) is bringing together the efforts of member organizations. Check out this collaborative post showcasing their impactful contributions towards rare disease research this Rare Disease Day.

This year, to celebrate the Rare Disease Day, Alexion is hosting an internal global Rare Disease Day event featuring colleagues who are personally impacted by rare diseases. The French node of Alexion is also holding an annual meeting with patient advocacy groups [link:  Alexion LinkedIn] as part of Rare Disease Week celebrations. In addition, Alexion has constructed a unique framework, called LEAP sessions, for colleagues and external stakeholders to experience life with a rare disease, and for a few hours, walk in the shoes of a patient. The LEAP sessions will be available all around the globe on Rare Disease Day.  

On the 4th of October, the Canadian Rare Disease Coordination Meeting was held in Montréal to discuss ongoing rare disease projects, identify remaining barriers, and plan the next steps to reach our collective goals. The meeting report is now available for consultation here:  https://lnkd.in/gN8i9WpX
With Rare Disease Day coming up on 29 February, CIHR hopes to amplify the main points discussed at this meeting and continue to build on the momentum within the rare disease community to increase coordination and collaboration, and ultimately to improve the outcomes for people affected by rare diseases.

This year, on Rare Disease Day, the Rare Disease Moonshot partners would like to shed light on the transformative potential of public-private partnerships (PPPs) in healthcare, particularly through the lens of existing initiatives such as ARDAT, BeSpoke Gene Therapy Consortium, Screen4Care, Together for Rare Diseases and the recent capacity building/training webinar on new technologies in rare disease research.

All these projects conducted by IMI/IHI, NIH, EJPRD, or ERNs in partnership with industry are  aligned with the vision of the Rare Disease Moonshot that there are many contributors on the journey from idea to a therapy and each play a critical role to make the ‘miracle’ happen, from fundamental research, through medicines discovery, development to access. They exemplify how PPPs can bring together diverse expertise and resources to tackle the challenges faced by patients with rare diseases and ultimately aiming to erase the “white spots” in rare diseases—areas with no ongoing research or translational capability. 

Public private collaborations combine the strengths of both sectors: the private sector’s innovation, efficiency, and capital with the public sector’s focus on social welfare and equitable access to healthcare. This synergy is a perfect recipe to enhance infrastructure and service, optimise clinical trials, or accelerate development of new treatments and their delivery patients.

The Rare Disease Moonshot has already set a transformative change in motion through Research Needs Recommendations to the scientific community and research funders, some of which already reflected in the Innovative Health Initiative’s recent calls for proposals. They include establishing novel approaches to improve clinical trials for rare and ultra-rare diseases (call 4, closed) and developing biomarkers for better diagnostics and treatment applicable to all therapeutic areas, including rare diseases (call 7, topic 3 open until 22 May).

The Rare Disease Moonshot and similar PPPs are not just about pooling resources; they are about making difference and creating a future where every individual with a rare disease receives the care and support, they need to live life to the fullest.

The European Union has supported the Rare Disease (RD) field extensively through its research and innovation programmes, with more than €2.4 billion made available from 2007-2020 under the Seventh Framework Programme (FP7) and Horizon 2020, to more than 440 projects on multinational research consortia in the area of Rare Diseases.
Discover all the EU-funded collaborative projects and the initiatives that create a solid framework for enhancing collaboration for RD research.


Horizon Europe🇪🇺 on X: “Today is #RareDiseaseDay. Ever wondered what 🇪🇺 is doing to support & facilitate this research field? Click below & find out!” / X (twitter.com)

@EUScienceInnov: Official account of DG Research & Innovation
@HorizonEU: Official DG Research & Innovation account for EU’s #HorizonEU research & innovation programme
@IreneNorstedt: Director European Commission, People, Health and Society Directorate, DG Research & Innovation

LinkedIn: EU Science, Research and Innovation

Instagram: https://www.instagram.com/p/C37tukIIioY/?utm_source=ig_web_copy_link&igsh=MzRlODBiNWFlZA==

More information: https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en

When? Thursday, 29 February 2024, 16:00 (CET) – 17:30 (CET)
Where? Online

The EMA’s Orphan Medicines Office is hosting an interactive webinar Rare Disease Day on 29 February 2024, to answer questions that developers of products for rare diseases or researchers in this field might have on orphan designations and rare disease development.

The webinar will feature:

  • short presentations on the background of orphan designation and the benefits it has brought to patients;
  • a live question-and-answer session enabling participants to ask their questions on orphan medicines development to a panel of regulatory experts (see agenda for details).

The event is directed towards healthcare professionals, academia, industry representatives and patients and requires registration to enable active participation.
The event will be also broadcast and recorded. The videos and presentations will be made available on the EMA website after the event.
Registration and more information: https://www.ema.europa.eu/en/events/orphan-medicines-development-ask-european-regulator

Fondazione Telethon announces commitment to make gene therapy for Wiskott-Aldrich syndrome available to patients

On February 28th Fondazione Telethon announced its commitment to ensure that gene therapy for Wiskott-Aldrich syndrome (WAS), a rare genetic disease of the immune system, will be available in the next future. This decision is the second step in an absolutely pioneering path to prevent gene therapies (the first was the decision to be responsible for the production and distribution of the gene therapy for ADA-SCID), potentially able to change the natural history of very serious diseases, from being unavailable to the patients. Fondazione Telethon is the first non profit organization to take on the responsibility of commercializing gene therapies for rare diseases such as immunodeficiencies, in order to guarantee access to the patients. has been selected to participate with the gene therapy development programme for WAS in the pilot scheme to accelerate the development of advanced therapies promoted by the EMA.


For this year’s edition of the Rare Disease Day, the Foundation for Rare Disease is participating to a press conference to alert media on the specific needs in care and research concerning rare diseases.
In addition, the Foundation will be involved in an information session with students on a campus.

To celebrate the Rare Disease Day 2024, the French National Research Agency (ANR) published a series of articles, presenting national plans for rare diseases and two projects supported as part of the #ANR’s action plan and #france2030.

More information:


The key national organizations in Canada, Genome Canada, Canadian Institute for Health Research, Health Canada (Government of Canada) and Canadian Organization for Rare Disorders, have been working together to raise awareness around Rare Disease Day.
Today is the launch of a new Canadian Rare Disease Network for Canada, a pan-Canadian network of multidisciplinary networks and partners working together to address the unique challenges faced by the millions of children and adults affected by rare diseases across Canada. The official launch will take place at the Rare Disease Day 2024 Summit taking place at Ottawa Marriott (Ottawa, Canada) Hotel that will include also the Rare Hero Awards to five extraordinary Canadians for their contribution to the Rare Disease Community, the roadmap for the implementation of Canada’s Rare Disease Drug Strategy to provide access to urgently needed therapies and the new frontiers in the Canadian RD research.


GlobalSkin RareDERM Community has been engaged in an active campaign for supporting their members through social media cards and sharing their stories. Check out the GlobalSkin CEO, Jennifer Austin, expressing her thoughts on the Rare Disease Day 2024: https://www.youtube.com/watch?v=0GBjrjjptkk

Rare Disease Day is an opportunity for GlobalSkin and the RareDERM Community of over 120 patient organizations, spanning all 6 WHO regions, representing approximately 29 rare dermatological diseases to increase awareness of the burden of rare skin diseases worldwide. 

The Italian Health Institute organized on 21 February 2024, in Rome, a conference dedicated to the Rare Disease Day, titled: “Rare diseases: challenges and opportunities in research and public health”, under which the Funders Constituent member, Domenica Taruscio and Claudio Carta, Interdisciplinary Scientific Committee member, also gave a keynote presentation on IRDiRC and its mission and goals.

The Orphan Disease Center has launched an awareness campaign for Rare Disease Day in 2024 called #leap4rare. The campaign aims to raise awareness for rare diseases by creating a platform for sharing videos and photos leaping in honor of rare diseases, using different hashtags: #leap4rare #rarediseaseday #raredisease #leapyear #leap #leapforrare The organization has also created a video for children explaining rare diseases available in English and Spanish.
English: https://youtu.be/9GcQ9myuaeg?si=XcF6ea3HpUkw1jnP
Spanish: https://youtu.be/a_9IulYCSBg?si=mzoFegV0fSJds7UH 

This year, the Rare Care Centre has prepared a series of actions and events for celebrating the Rare Disease Day at Perth Children’s Hospital. The University of Western Australia medical students have designed a rare animal scavenger hunt which in turn educates about rare disease at each clue. This is accompanied with arts and crafts. This activity is in collaboration with the Ronald McDonald’s House Charities, and they will be creating a Rare Disease Day notice board within “Fun on Four” a play space within the hospital. In addition, Connect Groups from Western Australia collaborated to the EXPO event to bring awareness to healthcare professionals about the support and advocacy groups available for rare disease children and their families. The Centre has also prepared a series of toolkits for School of Special Educational Needs to use as part of the weeks curriculum.

Rare Diseases South Africa has prepared a campaign to get #ShareYourColours going! The campaign asks for support to enable Rare Diseases South Africa NPC to continue advocating for those impacted by rare diseases and provide care to the millions who remain undiagnosed.

Share your colours, post your stories, invite friends, family and co-workers to join the campaign and help us to empower people living with rare diseases!

Order your #RarenessAwareness stickers and help us RAISE awareness.

Link: https://www.rarediseases.co.za/rdday

Rare Disease Day is celebrated on the last day of February every year and is a special day for rare disease patients, researchers, and advocates. The Coordination of Rare Diseases at Sanford takes part each year in the celebration. It brings together the entire community to highlight the challenges that people with rare diseases face. Many monuments and public buildings around the world will be lit up in the Rare Disease Day colors – blue, green, pink, and purple – to show solidarity with those affected by rare diseases. In Sioux Falls, SD, the CoRDS team sponsors the lighting of both Falls Park and the Arc of Dreams during this particular time.
On February 29th, 2024, to celebrate this Rarer Rare Disease Day, the CoRDS team, along with Rare by Design, will also be having an event at the Overlook Café in downtown Sioux Falls. 

More information: https://research.sanfordhealth.org/classes-and-events/rare-disease-day/02-29-24

Takeda announces that for this year’s celebration of the Rare Disease Day, the Global Medical Communications Neuroscience team will lead a Rare NS Disease Education Day on February 29th, including interviews with rare pediatric disease patients.
Check out more information: https://www.linkedin.com/posts/takeda-pharmaceuticals_rarediseaseday-healthequity4rare-activity-7166341060087001088-RcS7/