Join the 2nd International Conference on Clinical Research Networks (CRNs) for Rare Diseases, taking place 9–10 December 2025 in Heidelberg, Germany, with both onsite and virtual participation.

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The JARDIN General Assembly 2025 will take place in Vilnius (Park Plaza Hotel) and online from 7–10 October.

The JARDIN General Assembly is a crucial opportunity for JARDIN participants to review the progress of the JARDIN Work Packages, address questions about the project, discuss plans for future activities, meet and network.

For any questions or inquiries, please contact the JARDIN coordination team at:
jardin@meduniwien.ac.at

We look forward to your participation and valuable contributions to the JARDIN General Assembly.

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From 10–12 October 2025, the 8th International Congress on Achondroplasia and Other Skeletal Dysplasias will take place under the theme “Embracing the Future”.

The event will bring together global experts, researchers, clinicians, pharmaceutical representatives, and families.

Several ERN BOND members will be among the speakers, including:

• Karen Heath (La Paz Hospital)
• Valerie Cormier (Necker Hospital for Sick Children)
• Geneviève Baujat (Necker Hospital for Sick Children)
• Ana Coral Barreda (La Paz Hospital)
• Klaus Mohnike (Otto-von-Guericke University Magdeburg)

The program will also feature a presentation on ERN BOND and the role of ePAGs within the European Skeletal Dysplasia Alliance.

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At the Fondazione Cà Granda IRCCS Ospedale Maggiore Policlinico in Milan, Italy, Cristina Eller-Vainicher and Giovanna Mantovani are currently conducting an international survey to investigate current practices, access disparaties, and regulatory differences regarding Burosumab treatment in X-linked hypophosphatemia (XLH) with particular focus on:

• Challenges in the transition phase from paediatric to adult care
• Access and treatment continuity for patients over the age of 65

C2p Forum is excited to announce the European Congress on Rare Diseases and Orphan Drugs, set to take place on November 17-18, 2025, in Rome, Italy. This two-day event aims to bring together researchers, industry experts, stakeholders, and advocates from around the world to discuss the latest advancements, challenges, and opportunities in the field of rare diseases and orphan drugs. The conference’s main objective is to promote awareness, encourage collaboration, and accelerate efforts to address the unique challenges faced by individuals impacted by rare diseases.

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The umbrella organization Osteogenesis Imperfecta Federation Europe (OIFE) invite you to register for a 1,5 hour webinar called “Clinical Trial Update 2025”

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OrganisationERICA in collaboration with conect4children, EJP RD and ERN BOND

Annual Conference Organized by As.It.O.I.: A Key Event for OI Patients and Specialists

Every year, As.It.O.I. organizes a conference open to all, inviting both members and anyone interested in the topic of Osteogenesis Imperfecta (OI).

The event brings together medical professionals and specialists who update attendees on the latest advancements in medical research and possible therapies for OI.

The conferences serve as a valuable and rare opportunity for direct and open dialogue between doctors and patients, providing an important space for sharing experiences and exchanging insights among those affected by the condition.

Typically held over three days, the conferences are usually scheduled on weekends. Beyond the formal medical sessions, there are always informal moments for relaxation and interaction, allowing participants to connect and share personal experiences on how to manage OI in daily life.

For more details on the upcoming event, stay tuned for updates click here

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All ERN BOND members are invited to participate in the yearly EURORDIS survey aimed at evaluating the usefulness of the tools and resources developed to support Patient Partnership.

Your feedback is essential!

The survey is open to clinicians, as many resources are designed for their use, as well as ERN project managers involved in patient partnership activities.

Completing the survey will take just 5–10 minutes, and your responses will help EURORDIS improve its support for our community.

Survey

Thank you for your valuable contribution!

Annual Assembly 2025 in Genoa

The Annual Assembly 2025 will take place on Sunday, May 11, 2025, at the School of Robotics, Via Balbi 1/A, Genoa, Italy.

The event runs from 8:30 AM to 4:30 PM and is organized by Raggiungere OdV.

The day will feature engaging activities for children and young people, with dedicated animation to ensure a fun and inclusive experience for all ages.

The AISAC 2025 conference will be held in Rimini on May 24 and 25, 2025, at the Yes Hotel Touring, located at Viale Regina Margherita, 82. It is the annual conference of the Association for Information and Study of Achondroplasia (AISAC).

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ERN BOND is an official partner of  The World Orphan Drug Congress Europe.

This is the largest and most established event globally for orphan drugs and rare diseases.

Join over 2,000 attendees, gain insights from 250+ industry leaders, and connect with over 130 exhibitors as we bring together experts across the entire orphan drug lifecycle, discussing areas including regulatory affairs and policy to global pricing and cutting-edge gene therapies.

The attendees represent the most senior individuals across the industry, including leaders in R&D, gene therapy, rare diseases, precision/personalised medicine, genetic disorders, patient advocacy and engagement, associations in ATMPs, investors, regulatory affairs professions, governmental bodies, and more.

ERN BOND members are eligible for a free VIP pass: Apply here

A crucial event for the rare disease community is set to take place in Dublin. The Rare Disease Clinical Trial Network Ireland (RDCTN) has announced a one-day, in-person conference designed to foster collaboration and knowledge-sharing among leading researchers, patient advocates, industry representatives, and other key stakeholders.

The conference, hosted at O’Reilly Hall, University College Dublin (UCD), will delve into critical topics such as rare disease research methodology, translation, European Reference Network Patient Registries, and rare disease clinical trial partner perspectives. The event aims to bridge the gap between scientific advancements and the lived experiences of patients, facilitating progress in rare disease treatments.

Notably, the event will feature Prof Natasha Appelman-Dijkstra, who will present the EURREB registry. While the conference focuses on rare diseases in general, the European Reference Network on Rare Bone Diseases (ERN BOND) will be referenced extensively, highlighting its crucial role in advancing research and patient care.

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Join the international drug repurposing conference (iDR25) to unlock the full potential of medicines in driving innovation for patient benefit.

From cutting-edge AI approaches transforming drug discovery to exploring innovative business models and regulatory pathways for market access, the event brings together key opinion leaders from research and patient communities, policymakers, funders, regulators and the private sector. Join others who are passionate about the transformative potential of medicines, to innovate, connect and reshape drug repurposing. 

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Join the Norwegian Rare Disease Day event on 28 February!

This year’s theme: “Knowledge for the Future”.

Organised by the Norwegian national centre for rare disease, the national alliance for people with disabilities in Norway and the youth national alliance

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t#UNIAMOLEFORZE – RARE DISEASE DAY – BOLOGNA

In celebration of the 18th World Rare Disease Day, UNIAMO is organizing a series of events as part of the #UNIAMOleforze campaign, running from January 30th to March 1st. The campaign will conclude with a event  in Bologna, organized in collaboration with ERN BOND.
This event will mark the end of a month dedicated to raising awareness about rare diseases.

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As part of the 18th Rare Disease Day, the Institut de Génétique Médicale d’Alsace (IGMA) and the Plateforme d’Expertise Maladies Rares d’Alsace (PARA), with the support of the ERN-EYE network, are pleased to invite you to a film evening dedicated to rare diseases, on 26 February 2025, at Le Cosmos cinema in Strasbourg.

This evening will take place on the evening before the rare diseases conference on cross-border care to be held at the Parliament in Strasbourg, which you may have planned to attend!

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8th Hybrid Meeting of the Hospital Universitario la Paz Skeletal dysplasia Multidisciplinary Unit (UMDE-ERN BOND) Madrid

We invite you to the 8th hybrid Meeting of the Hospital la Paz Skeletal dysplasia Multidisciplinary Unit (UMDE-ERN BOND) Madrid, which will be held on Tuesday 18 March 09:00-15:00 CET.
The conference is open to all specialists interested in skeletal dysplasias (clinical geneticists, molecular geneticists, pediatric endocrinologists, pediatricians, surgeons, obstetricians, pathologists, radiologists, etc.), and will be accredited as a continuing education activity.

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The European Human Genetics Conference 2025 will take place from 24 to 27 May 2025 in  Milan, Italy.

Organised by the European Society of Human Genetics (ESHG), this  event is a cornerstone for professionals, researchers, and students in the field of human genetics.

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The Ministry of Health of Poland, in cooperation with the European Economic and Social Committee (EESC) and Medical University of Warsaw, would like to announce a Conference on Rare Diseases will take place on 10th of April 2025, in Warsaw.

Hosted under the Polish Presidency of the Council of the EU, the event is to underscore the importance of common European policies, strengthened national healthcare systems, and joint efforts to address challenges of people suffering from rare diseases.

The conference will be followed by a side-event, held on 11th of April 2025, dedicated
specifically to clinicians, researchers and patients.

Further details will be available soon.

If you have any questions, please contact us by e-mail a.lesniewska@mz.gov.pl .

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On Monday, the 20th, Denmark held its 3rd National Networking Day on European Reference Networks (ERN).
Pernille Axel Gregersen (ERN BOND member) and Tenna Toft Sylvest (ERN BOND ePAG), alongside other ERN members, Danish ePAGs, the Danish Health Authorities, and Rare Diseases Denmark, participated in a workshop. The event focused on establishing an effective structure for knowledge sharing, included insights on Norway’s implementation of Orphacodes, and featured inspiring stories on ERN experiences from clinicians and ePAGS.

This 5-day course on human growth biology and growth disorder management is designed for clinical fellows and recent pediatric endocrinology graduates.

Limited to 26 participants, the course features internationally recognized experts and a diverse selection process.

English proficiency is required. The SEK 16,000 fee (approx. €1400, $1500, £1200) includes materials, meals, and lodging at a scenic location near Stockholm.

Topics include the GH-IGF-1 axis, GH deficiency testing, short stature syndromes, skeletal disorders, neuroimaging, GH treatment safety, long-acting GH, psychosocial and ethical aspects of growth disorders, metabolic bone disorders, late effects in cancer survivors, and growth failure in chronic diseases. Apply by February 15, 2025. Download the event flyer. Contact Professor Lars Sävendahl (scientific content) or Ms. Britta Sjöblom (practical matters).

Sponsored by Pfizer & NovoNordisk.

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On Thursday, January 30, at the “Cosimo Piccinno” Auditorium of the Ministry of Health, the awareness campaign #UNIAMOleforze will officially begin. Throughout February, over 50 events will shine a spotlight on rare diseases and the needs of the more than two million people affected in Italy. The campaign will culminate on Rare Disease Day, February 28.

The opening conference, “Molto più di quanto immagini”, will be streamed live on the Ministry’s channels, with LIS interpretation available. This year’s theme focuses on research—a crucial hope for rare disease patients, from treatments to quality-of-life improvements.

During the event, the official campaign video, produced by UNIAMO in collaboration with Poti Pictures, will be unveiled.

Find the full program and event details at: uniamo.org/uniamoleforze2025

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ERICA-connect4children workshop will take place on February 4–5 in Heidelberg, Germany.

Titled “Exploring and Enhancing the Potential for ERN Registries to Advance Research in Rare and Paediatric Conditions,” this workshop aims to bring together ERN registry representatives, c4c partners, and other experts to discuss how existing ERN registries can support paediatric research and address regulatory needs.

Attendance Guidelines:
Due to limited capacity, we can currently accommodate two representatives per ERN. We recommend selecting:

One representative with a Coordination/Strategic Role (e.g., ERN Coordinator)
One representative with a Technical Role (e.g., Registry Manager)

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Webinar

The RealiseD project has officially launched!

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ISCBH Bone School 2025

The ICCBH Bone School is a 3-day residential international educational course giving the opportunity for participants to learn about and discuss mechanisms, clinical diagnosis and treatment of paediatric bone health and rare bone diseases.

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This conference will present the EESC’s exploratory opinion drawn up at the request of the Hungarian Presidency of the Council of the EU on Leaving No One Behind: European Commitment to Tackling Rare Diseases, which was adopted at the October EESC Plenary Session (Rapporteur: Ágnes CSER, Civil Society Organisations – GR III, Hungary).

This event, will take place at the Budapest Congress Centre, in Alkotás street 63-67, in Budapest, Hungary.

With this event, the EESC will demonstrate once again the commitment of civil society organisations to support the establishment of a European policy framework for rare diseases, bringing together all the stakeholders needed for a concerted strategy in the areas of research, prevention, digital, healthcare, social protection and investment in rare diseases, both at European and national levels.

The event will also be webstreamed in English and Hungarian.

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EPOS 2025 – 43rd Annual Meeting!

EPOS Annual Meeting 2025 – 43rd Annual Meeting will be held in Toulouse, France on 2-4 April 2025. Find more information here: www.epos2025.org
Early bird registrations are now open! Register here!

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The European Rare Diseases Research Alliance (ERDERA) has announced its 2025 Joint Transnational Call (JTC) for Proposals on Rare Disease Therapies, which opens on 10 December 2024.

This call invites research teams across Europe and internationally to submit collaborative projects that focus on pre-clinical therapy studies for rare diseases using small molecules and biologicals.

Eligible Research Topics

Proposals should focus on:

• Development of pre-clinical therapies using models such as cell cultures, organoids, or animal models.
• Identification of biomarkers related to therapeutic effectiveness.
• Proof-of-concept studies to confirm pharmacological activity and safety in a pre-clinical setting.

Projects focused on gene therapies, rare neurodegenerative diseases (e.g., Alzheimer’s), and rare cancers are not eligible for this call. This call specifically encourages therapies that could translate into clinical application.

Key Dates for Submission

The JTC 2025 will follow a two-stage application process:

• 10 December 2024: Call opens.
• 13 February 2025: Pre-proposal submission deadline.
• 9 July 2025: Full proposal submission deadline, with funding decisions expected by December 2025.

Get Involved

An informational webinar will be held on 17 December 2024 to assist applicants. ERDERA encourages collaboration with Patient Advocacy Organisations (PAOs) and the inclusion of Early Career Researchers (ECRs) to foster a patient-centred and collaborative research approach.

For more information, visit ERDERA’s website.

The next ERN-EYE Scientific Workshop will take place in Madrid, Spain, from 21st to 22nd November 2024.

More information soon.

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c4c will host an international symposium, a two-day event this November on the 13th and 14th in Amsterdam, for invited stakeholders to share the achievements and results of the project, including the start-up of the not for profit, c4c-S (conect4children Stichting), that continues outside of the c4c consortium.

If you work in paediatric clinical trials or paediatric medicine and this sounds interesting to you, register your interest at spoc@conect4children.org

Register by 30 October

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The ERN-EuroBloodNet Progress Meetings, are organized every autumn by the ERN-EuroBloodNet Coordination team, to promote networking among the haematologic stakeholders with the aim of identifying needs and progress in the field of rare hematological diseases.

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7th Annual Conference will take place on November 6th, entitled “Rare Rheumatology: Niche Conditions and Future Directions”.

ERN BOND member, Rachel Crowley, will talk about XLH, OI and familial Paget’s and  ERN BOND.

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Making a Difference for Rare Diseases and Disorders in the New EU Legislature

Hosted by MEPs Jonás Fernández,Tilly Metz, Kristian Vigenin, and Andrey Kovatchev, the representative organisations of the Skeletal Dysplasias Alliance (SDA) across the EU are pleased to invite you to the 2024 Summit on ‘Making a Difference for Rare Diseases in the New EU Legislature’.

ERN BOND – WP4 co-leader, Karen Heath will be participating in the discussion on the State of play of rare diseases and skeletal dysplasias.

Hybrid meeting

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The EuRREB registries (EuRRECa and EuRR-Bone) are conducting a mapping exercise among ERN members. Patient registries are key in rare disease research, and understanding the characteristics of your centre will help provide a better picture of the data gathered in the registries. This survey is addressed to Endo-ERN/ERN BOND representatives.

We expect one response per centre; however, if your centre cares for both paediatric and adult patients and the responses may differ significantly, you may submit one contribution for each age group. This survey will take approximately 15 minutes to complete. Please submit your contribution by Friday, November 15.

ERDERA was launched in September 2024 with a remarkable budget of 380 million euros, marking a significant commitment from the European Union, Horizon Europe, and member states. Coordinated by the National Institute of Health and Medical Research (INSERM) in France, this ambitious partnership unites over 170 organizations from the public and private sectors to advance rare disease research and innovation. 

ERDERA will hold a launch event on 28 October 2024 to officially present the European Partnership on Rare Diseases (ERDERA), a groundbreaking initiative aimed at transforming the lives of 30 million rare disease patients across Europe and beyond. 

We invite you to register for the event and join the meeting to learn more about ERDERA’s vision and goals. 

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Fundacion ALPE national conference for patients and families

Organized by ERN BOND ePAG Susana Noval.

ERN BOND WP4 co-leader Karen Heath will be participating in this meeting, talking about “The importance of a good diagnosis” and “Clinical trials in skeletal dysplasias” in Malaga, Spain on the 26-27th October. Meeting will be given in Spanish.

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The goal of the webinar is to update the OI-community about ongoing clinical trials – both those who are recruiting and others. The target group is anyone interested in OI-related research – both OI professionals, industry and people with OI and their families can attend.

The joint event RE(ACT) Congress and IRDiRC Conference 2025 will take place 5-7 March 2025 in Brussels, Belgium.

This event aims to bring together scientific leaders, experts and young scientists from different scientific fields to present research, exchange ideas and discuss rare disease research policy, as well as patients and patient organisations involved in research to share their experiences and perspectives.

Abstract submission deadline: 31 December , 2024
(registration is mandatory to submit an abstract; you can upload your abstract only upon registration payment).

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Tartu Ülikooli Kliinikum, the Centre of Excellence for Rare Diseases at Tartu University Hospital, is organising a seminar on 3 October on the integration of European reference networks into the Estonian healthcare system as in part of the JARDIN joint action.

The integration of ERNs into national health systems is a fundamental objective to improve the lives of people living with rare diseases or complex conditions.

Scan the QR code on the image for more information.

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Metabolic Bone Diseases and Frailty: science to practice

On 17 and 18 October, the Istituto Ortoepdico Rizzoli in Bologna will host the course “Metabolic Bone Diseases and Frailty: science to practice“.
This course will be focused on translating science into practice in the field of metabolic bone disease diagnosis and management, in the light of modern imaging. Special attention will be put on the take home messages, aiming to integrate the clinical practice of different professionals working in the field, with the goal of improving diagnosis and management of MSK frailty.

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The ERICA ERN Research Conference will take place from December 11th to December 13th, 2024 in Udine, Italy and will be hosted by MetabERN.

The aim of the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity. ERICA Conference serves as a great opportunity to ‘meet and greet’ the active ERN research community, to present the research projects involving ERNs and to discuss the future of the ERN related Research.

Attention! Call for Abstracts related to ‘ERN Research’, please see the call text and Regulations For Abstracts. Deadline submission 1st October 2024.

Check out the full program and all the details on ERICA’s website!

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The Congress Committee and the ERN ReCONNET is glad to invite you to the 2nd ERN ReCONNET International Congress on rare and low-prevalence connective tissue diseases that will take place in Prague, Czech Republic, on April 9-11, 2025 (https://bit.ly/3Rdb3Xf). Knowledge, awareness, and a patient-centered approach have been cornerstones of the activity of ERN ReCONNET in its first five years of activity and the program reflects its mission and covers important topics in the diagnosis and management of rare and complex diseases such epidemiology, diagnosis and clinical management, biobanking, and registries, quality.
The program integrates the perspective of all the different stakeholders involved in rare diseases management, sparkling the interest not only for specialists but also for people living with a rare disease, caregivers, clinicians, policy makers, industry, and pharma. This unique event will represent an opportunity for the rare and complex connective tissue diseases community to meet, work together, and find new inspirations for research, diagnosis, and therapy.

We look forward to welcoming you in Prague! Save the date!

Prof. Marta Mosca on behalf of the Congress Committee

Save these important dates

Late registration deadline: March 25th 2025
Onsite registration: From March 26th 2025 and onsite
Abstract submission deadline: November 25th 2024
Abstract notification: December 16th 2024
Early registration deadline: December 18th 2024

Registration is open.
Registration fees are reduced for Delegate member ERN, Students/Trainees, Healthcare Professionals, and Patients.

ABSTRACT SUBMISSION is open, deadline is November 25th 2024.

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This year, Rare Diseases International has begun advocating for the World Health Assembly to have a Resolution on Rare Diseases in 2025, and we need your help to make it a success. This webinar, co-hosted by RDI the Arab Republic of Egypt, the State of Qatar, and Spain will be an opportunity to explain in more detail the opportunities to improve the lives of persons living with a rare disease (PLWRD) and the need to make the Resolution a reality.

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ANEOP (Non-Profit Association of Osteoporosis Experts) is once again proposing a double event on 3 and 4 October: the second edition of ‘ANEOP Future’ thanks to young bone specialists and the ANEOP.

These will be two days of in-depth studies with a special focus on rare diseases, on practical clinical aspects in the field of postmenopausal and glucocorticoid osteoporosis, on forms of osteoporosis and on forms of osteoporosis that are not yet fully developed. , on forms of secondary osteoporosis, on the relationship of bone with muscle and obesity, and between osteoporosis and arthrosis. There will also be a specific part on vitamin D, on the most recent instrumental diagnostic acquisitions, on complex pathologies, as well as in-depth studies on the role of orthoses.

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The 1st ANDO Regional Meeting will be held on 2 September 2024 in Funchal (Madeira Island, Portugal). In this 1st edition, with the motto ‘Skeletal Dysplasias – People, Society and Regionality’, ANDO will take to the Autonomous Region of Madeira (RAM) a diverse programme with information sessions on endocrinology, physical medicine, physiotherapy, social and employability issues, as well as other activities and cultural moments.

Specialized speakers in different areas linked to skeletal dysplasias will take part, focusing on the experience of People and their place in society, with families living in RAM in the foreground.

The event will take place at the Funchal Cultural and Research Centre (CCIF), a venue dedicated to promoting the arts and supporting scientific and technological research. It will be another opportunity to share knowledge and experiences, take part in activities and bring people together.

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Thank you for helping us 

We are pleased to announce  the 3rd virtual European Investigator Meeting for osteogenesis imperfecta (OI) wich will take place on November 15.

OIFE invite you to register and submit abstracts on any aspect of OI research, whether basic, translational or clinical.

The abstract submission deadline: 4 October 2024

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Aim of the survey
The aim of the survey is to identify needs and priorities of academic stakeholders involved in clinical trials, integrating them into the work of ACT EU. It seeks to address challenges in conducting clinical trials in the EU faced by ERNs and academics, highlight topics needing further clarification or discussion, and propose solutions for improving and accelerating clinical trials.  Academic stakeholders are encouraged to contribute ideas for improvement across various aspects of clinical trial governance and implementation, clinical trial methodologies and data analytics, regulatory processes, safety monitoring, training, and emergency preparedness.

What is ACT EU?
The ACT EU (Accelerated Clinical Trials in Europe) initiative is a collaboration between EMA, the Heads of Medicines Agencies (HMA) and the European Commission (EC), which seeks to transform how clinical trials are initiated, designed, and run. It encompasses a range of priority actions which aim to foster collaboration, streamline processes, and improve the regulatory environment to facilitate the conduct of clinical trials in the EU, ultimately benefiting patients and advancing medical research and innovation.

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The World Orphan Drug Congress Europe is the largest and most established orphan drug & rare disease event worldwide. Meet over 2000 attendees, hear from 250 leading speakers, and connect with 130 exhibitors as we bring together experts from the start-to-finish of orphan drugs. From regulation and policy, to global pricing and gene therapy.

If you are a member of an ERN, patient group organization, charity or government (including public health bodies, HTAs, regulators), you are eligible for a free VIP pass.

Click here to watch the World Orphan Drug Congress Europe 2024 trailer

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On 3 July, the MonitoRare Congress will take place in Rome.
During the event, the X MonitoRare Report on the situation of people with rare diseases in Italy will be presented.

This edition is particularly significant as it coincides with the 25th anniversary of UNIAMO, the Italian Federation for Rare Diseases.

The Congress will take place at The Hive Hotel, Via Torino 6, Rome, starting at 10 am.

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We are pleased to announce the upcoming meeting of the Italian partnership of the JARDIN Joint Action which will take place in Rome on 20 June 2024 Auditorium of the Ministry of Health, viale Giorgio Ribotta 5, Rome.

This marks the second meeting of the Italian component of the JARDIN Joint Action. To disseminate information about the JA, all Italian healthcare professionals have been invited. The event will feature representatives from the Ministry of Health’s planning departments as well as regional authorities

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Bologna, Italy – June 14 – 16, 2024 – The 40th National Conference of the Association will focus on pain, which will be treated and “analysed” from different angles, from post-operative pain to the pain that accompanies many of us on a daily basis.

The search for physical autonomy, the monitoring of breathing and the control of our diet are objectives to be achieved.

They have chosen the title “Password – Unlock your quality of life” because together, through medical reports and our valued discussion forums, we will try to find the right and appropriate combination to achieve a better quality of life for each of us.

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EURORDIS calls for action:
EURORDIS, a leading European rare disease organisation, is calling for a continued focus on rare diseases following the upcoming European Action Plan, and has drafted an open letter to the European Commission outlining steps to ensure the Plan translates into meaningful improvements for patients.

The letter highlights the need for a comprehensive strategy that bridges different policy areas and streamlines existing efforts. Specific targets with clear metrics are seen as essential to track progress.

EURORDIS encourages individuals and institutions to sign the letter to show their support for continued action on rare diseases.

SIGN it Here: Open letter

3rd ISCBH/ERN BOND International Achondroplasia Workshop “Long bone pathology in children with Achondroplasia”, 22 June 2024 in Salzburg, Austria a pre-meeting at the 11th International Conference on Children’s Bone Health – ICCBH.

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REMEDi4ALL invites all stakeholders in the osteogenesis imperfect (OI) research community to join us for a day of learning, discussion, and inspiration.

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16th International Skeletal Dysplasia Society  Meeting (ISDS)

We are happy to invite you to the 16th International Skeletal Dysplasia Society (ISDS) meeting in Madrid, Spain, 18-21^st September, organized by a local Iberian committee (Spain & Portugal).
The scientific program of ISDS meetings includes presentations and posters from selected abstracts covering the advances in the clinical,
radiological, genetic, biochemical, and molecular characterization of skeletal dysplasias, as well as advances in medical, orthopedic, surgical, and psychological care and treatment of patients.

The abstract submission deadline is 22 March 2024, but the application is now open for you to start preparing your abstract.

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ICCBH 2024: 11th International Conference on Children’s Bone Health

The International Society for Children’s Bone Health would like to invite you to their 11th International Conference on Children’s Bone Health to be held from Saturday 22 to Tuesday 25 June 2024.
ICCBH 2024 is your opportunity to hear about and discuss the newest developments in our understanding of paediatric bone health.

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The ANDO Meeting is the biennial event organized by ANDO Portugal, the National Association for Skeletal Dysplasias, which was founded on 26 May 2015 and whose mission is to support people and families by providing guidance and support on socio-economic, educational, legal and health issues, raise awareness about rare bone conditions, and collaborate with medical and scientific research.

The 6th ANDO Meeting will be held on the 1st of June 2024 in the Portuguese city of Aveiro, at the Museum of Saint Joana, a location of great cultural and architectural importance. Its goal is to inform and bring together people with skeletal dysplasia, families, health professionals, and institutional representatives, by promoting the participation in cultural activities and informative sessions related to skeletal dysplasias, and encouraging the sharing of experiences between all.

The 2024 edition takes place alongside the celebrations for World Children’s Day and Aveiro Portuguese Capital of Culture, which is why ANDO is committed to providing an enriching experience both for young people and on a cultural level. Please note that the event will be in Portuguese.

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ECTS 2024 Congress
ECTS Congress is the annual meeting of the European Calcified Tissue society, the place where the best of scientific research and clinical practice meet. The Congress is the top conference in Europe to present and discuss musculoskeletal research. Listening to top opinion leaders and experts from Europe and around the world plus face-to-face discussions with your peers create numerous opportunities for networking and developing new research ideas and projects.
The five-day event, take place 24th-28th May 2024, in Marseille.

Submit your New Data Abstracts or Clinical Cases from 16 February 2024- 1 st March 2024 23:59 CET here

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The “BONE Dysplasias 2024” symposium is the result of a project by the Portuguese Association of Osteogenesis Imperfecta (APOI) with the Multidisciplinary Bone Dysplasia Team of the ULS Santa Maria, called “Aliança INquebrável” (Unbreakable Alliance), to stimulate collaboration between patients, health professionals and other parties involved in improving the quality of life of people with bone dysplasia.

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12th ECRD – European Conference on Rare Diseases & Orphan products

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 as a fully hybrid ceremony on 15-16 May 2024, in Brussels and online.

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Retreat is the main opportunity for young researchers and established scientists from the research centres of the Emilia-Romagna Region to meet in the fields of biomedical research, basic research, clinical research and new technologies.

During the event, one of our members, Enrico Schileo, will give a presentation during the IMAGING session on HR-pQCT, including the activities of ERN BOND.

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Nordic Skeletal Dysplasia Workshop. Copenhagen, Denmark. May 2nd & 3rd, 2024

The Nordic Skeletal Dysplasia Workshop is a specialized event which bring together researchers, clinicians, and experts in the field of skeletal dysplasia from the Nordic countries with the aim to promote collaboration, knowledge exchange and advancements in the understanding and management of skeletal dysplasia.

Event summary

Transversal collaboration to support research and improve the quality of life of patients with rare genetic diseases

ACAR Aps, the Italian Patient Association for Multiple Osteochondromas, Ollier Disease and Maffucci Syndrome, will hold their 14th Conference from 12th to 14th April at The Sydney Hotel in Bologna (Italy).
The Conference will bring together national and international researchers and clinicians from a range of disciplines to gain a better understanding of Multiple Osteochondromas, Ollier Disease and Maffucci Syndrome, as well as focusing on how to improve the quality of life of patients and their needs.
During the conference, the First Meeting of the European Rare Bone Disease Alliance with a number of European Patient Associations will also take place.

Event Summary

JARDIN kick-off meeting

This will take place on 6-7th March in Brussels, all ERNs will be present per avviare i lavori dea Joint Action JARDIN for the integration of ERNs into national health systems.

Conference “Rare Diseases in the EU: Joint Action shaping the future of ERNs”

The hybrid event, organised by the European Economic and Social Committee (EESC) and DG SANTE, will take place on 8 March 2024 in Brussels, Belgium.

The conference will conclude the Joint Action kick off meeting aiming to raise the awareness of the Joint Action and rare diseases in general and reach a wider community of stakeholders. and to follow up the 2023 Conference on “Rare diseases and the European Reference Networks” in Bilbao, Spain.

Event summary

We are excited to announce that the 2024 Registries Symposium is scheduled to take place on Monday 22 April 2024 in Milan, Italy. We are looking forward to seeing you then!

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Rare Disease Clinical Trials Conference happening on February 29th and March 1st hosted by the Rare Diseases Clinical Research Network in Dublin, Ireland.

Event summary

“A TUTTO ERN”
one-day conference for medical and health students, held on 21st February at 13:00 CET in the Morgagni Auditorium of Padua University Hospital. Full program here.
Various other events organised in collaboration with the 22 ERNs present will continue until 29th February.

See full programme here

The 13th edition of the awards took place on Tuesday, 20 February 2024, in Brussels and online, bringing together hundreds of people living with a rare disease, patient advocates, policymakers (including representatives from the European Parliament and the European Commission), scientists, healthcare professionals, industry representatives, and more, from all around the world.

#UNIAMOleforze Rare Disease Day Press Conference

Following 2022 and 2023 editions, on the occasion of the 17th World Rare Disease Day, UNIAMO – the Italian Federation for Rare Diseases – is organizing a press conference within the #UNIAMOleforze campaign on February 12th at 12.00 pm at Palazzo d’Accursio in Bologna, Italy.

• Follow the live streaming on Facebook

More information (IT)

The seminar took place in Azores on 20th January 2024 with a programme including an overview of skeletal dysplasias, an ERN BOND presentation, and its affiliated members in Portugal (presented by André Travessa), Diagnosis, clinical cases presented by interns (with a prize for the best case presentation), a roundtable focusing on multidisciplinary care, and a session on regional reality, challenges on follow up of people in different islands.

Event summary

🗓 From 20th to 22nd September 2023
⏰ 09:00 – 17:30
📍Istanbul, Turkey

Participants will learn the fundamentals of Whole Exome Sequencing (WES) including terminology, pre and post-alignment processing, variant calling using Genome Analysis Toolkit (GATK) pipeline and annotation/filtration/interpretation of the variants. Moreover, Polygenic Risk Score (PRS) Analysis, predatoR: Pathogenicity Prediction tool, Wikipathways, Multi-omic Data Analysis and Pathway Enrichment Methods will be covered.

Organizer: Prof. Osman Uğur Sezerman, EJP RD and Acurare member

‼️ Registration is open here until September 9th, 2023 ⤵️

Don’t miss your chance to nominate your star of the rare disease community, or enter yourself, for one of the next EURORDIS Black Pearl Awards!

The 13 award categories recognise the outstanding efforts of individuals, organisations, companies, researchers, scientists, media, and policy makers in bringing about change to improve the lives of the 30 million people in Europe and 300 million worldwide living with a rare disease.

⏰ Nominations can be submitted from anywhere in the world until Sunday, 10th September 2023 (23:59 Central European Time)!

📧 Any questions? Do not hesitate to contact Martina Bergna, EURORDIS Events Manager, at martina.bergna@eurordis.org

SUBMIT YOUR NOMINATION ⤵️
https://form.jotform.com/230511650548350

HOT TOPICS: Pediatric Bone Diseases.

New diagnostic and therapeutic frontiers.

📍Rome, 15-16 September 2023

The deadline for the abstracts submission is August 10th ⤵️
https://adobe.ly/3rySLpj

Survey now live! Take the new #RareBarometer survey and share your opinion on newborn screening for rare diseases! Should rare diseases be screened at birth?

Survey available here in 24 languages ⤵️
tiny.cc/survey_NBS_RD

⏰ 29th and 30th of April
📍 Setúbal, Lisbon

A lot of news and diversity, including themes such as Adapted Athletics, Nutrition, Accessible Tourism, among many others and national and international speakers specialized in different areas of knowledge related to bone dysplasias.

There will be no shortage of activities for children and a cultural circuit on Saturday morning! It will be another opportunity to share knowledge and experiences, participate in activities and bring people together.

More informations here: www.andoportugal.org/congresso-ando-2023

A.C.A.R. Aps (Italian Patient Association for Multiple Osteochondromas, Ollier disease and Maffucci syndrome) will hold their XIII Conference from 14th to 16th April 2023 at the Grand Hotel Continental, Tirrenia (Pisa), Italy

The Conference will bring together national and international researchers and clinicians from a range of disciplines to gain a better understanding of Multiple Osteochondromas, Ollier disease and Maffucci syndrome.

More information will be published on the website.

Programme: Conference Programme 2023_A.C.A.R. Aps

Precision medicine is an emerging approach to clinical research and patient care based on patient-individual medical data, genetic, clinical phenotype and sociodemographic characteristics to provide patient-level predictions of disease course and response to treatments options.

The aim of workshop is learning from monogenic diabetes as a model of precision medicine by genetic diagnosis and elaborating a proposal of a study design to apply precision medicine in other rare genetic diseases.

The workshop is reserved to medical doctors, geneticists, molecular researchers – employees of affiliated to an ERN-Full Member or affiliated Partner institution.

Registration closed on March 23rd.

The training workshop is free of charge.  Travel and hotel expenses will be reimbursed for all selected 20 ERN participants. Lunch and dinner will be provided on site for all participants.

More information

The EURORDIS All ePAG Meeting will take place between November 14th-17th, 2022.
This will be an online event of 5 short sessions over 4 days. They will take place from Monday to Thursday, each day at 10.00-11.00 CET.
You can join as many sessions as you like and pre-registration is not required.

Check the agenda: All-ePAG-meeting-Agenda_-2022.