News and events
News and events
Rare Disease Day on 29 February 2024
Posted on 28 February 2024
On Rare Disease Day 29 February 2024, we come together to raise awareness and celebrate the strength and resilience of those affected by rare diseases. At the heart of our efforts lies a commitment to drive positive change, empower patients, and advance the quality of care for rare disease patients.
ERN GENTURIS is working to improve identification of the genetic tumour risk syndromes, to minimise variation in clinical outcomes, design and implement EU-guidelines, develop the GENTURIS registry, support research, and empower patients. The network is educating the public and healthcare professionals via the website www.genturis.eu, by organising regular webinars and courses, and by fostering sharing of best practice across Europe. Access to multidisciplinary care (digital as well as face-to-face) will be improved, to share and discuss complex cases. The network is enhancing the quality and interpretation of genetic testing.
Together, we can turn awareness into action and create a world where every person affected by a rare disease receives the care, support, and hope they deserve.
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5th course in Hereditary Cancer Genetics, Bertinoro, Italy
Posted on 15 February 2024
Date: 17-20 September 2024
This course, organised by members of the ERN GENTURIS, aims to deliver up-to-date knowledge on hereditary cancers to clinical and molecular geneticists in training or certified. The programme is available here and the registration will open soon. More information will follow.
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12th European Conference on Rare Diseases (ECRD) open for registration!
Posted on 11 January 2024
On 15-16 May 2024, the 12th European Conference on Rare Diseases (ECRD) will be held in Brussels and online!
The European Conference on Rare Diseases & Orphan Products (ECRD) is the largest, patient-led, rare disease policy-shaping event held in Europe, bringing together people with rare diseases and patient advocates, policymakers, healthcare industry representatives, clinicians, regulators and Member State representatives. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with over 1,500 advocates, experts, policymakers and industry professionals from the rare disease community.
A limited number of 300 places are available to join in person, and early-bird fees are available until 2 February 2024.
Follow the link to register: https://www.rare-diseases.eu/register/
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2024 InSiGHT Biennial Meeting
Posted on 17 October 2023
Abstract submission is now open for the 2024 Insight Biennial Conference to be held in Barcelona at 19th-22nd June 2024.
This conference focusses on the worldwide improvement of care of patients and families with any hereditary condition resulting in gastrointestinal tumours.
Conference directors are Prof. dr. Nicoline Hoogerbrugge (Radboudumc), Dr. Gabriel Capellá (CIO-IDIBELL Barcelona), Dr. Francesc Balaguer (Hospital Clinic, Barcelona) and Prof. dr. Marjolijn Ligtenberg (Radboudumc).
For more information, see https://www.insight2024.org.
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The rare disease community comes together in calling on the EU institutions and our national governments to stand by the European Reference Networks
Posted on 6 October 2023
An open letter signed by all ERNs calling for a renewed and continuous support to the ERNs was published.
"We, the undersigned, representing the European Reference Networks (ERNs) and people living with a rare disease across Europe, call on the EU institutions and EU Member States’ governments to stand by the European Reference Networks and to uphold their commitment to enable long-lasting impact in people’s lives and, fundamentally, give all people living with a rare or complex condition in Europe the same opportunities to access timely and adequate specialised healthcare."
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Just published: Thematic Group 1 team statement outlining the implementation of the new nomenclature within ERN GENTURIS!
Posted on 28 September 2023
“Now it is the time to embrace the new nomenclature (Neurofibromatosis type 2 will become NF2-related schwannomatosis, and schwannomatosis will be categorised as SMARCB1-related schwannomatosis, LZTR1-related schwannomatosis, 22q-related schwannomatosis, or schwannomatosis not otherwise specified (NOS)) within ERN GENTURIS. We encourage all GENTURIS members to advocate for the adoption of this nomenclature in their respective countries.“
TG1 Leader Ignacio Blanco
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ERN GENTURIS evaluation results in 100% score!
Posted on 27 September 2023
ERN GENTURIS as a Network received in its final report 100% score with a specific comment from the Evaluation Body:
“ERN GENTURIS was established in March 2017. The need for such a network was driven by the common challenges faced by patients with rare genetic tumour risk syndromes across Europe: delay in diagnosis, lack of prevention for patients and healthy relatives, and therapeutic mismanagement. ERN is working to improve the identification of these syndromes, minimise variation in clinical outcomes, design and implement EU guidelines, develop the GENTURIS registry, support research, and empower patients.
Over the last five years, the ERN has developed a sustainable structure, excellent management, coordination between members, written and approved diagnostic and therapeutic guidelines, active participation in the CPMS, a functioning registry, and several research activities on ERN themes and patient empowerment.
Of particular note is the excellent coordination of the ERN. Coordination is carried out by Radboud University Medical Center in Nijmegen, the Netherlands. The results of the activities and the evaluation of the submitted material reaffirm the smooth coordination process.”
All ERN GENTURIS Full Members that have been approved in 2017 went through the Independent Evaluation Body evaluation as specified in the Commission Delegated Decision 2014/286/EU and Implementing Decision 2014/287/EU. More information about the process can be found here: Evaluation of the European Reference Networks.
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Letter in the Guardian by ERN GENTURIS Supporting Partner Marc Tischkowitz from Cambridge University Hospital.
Posted on 21 September 2023
A letter from ERN GENTURIS Supporting Partner Marc Tischkowitz from Cambridge University Hospital on the importance of UK re-joining the ERNs was published in the Guardian on 21 September 2023:
The ERN GENTURIS team wholeheartedly supports this letter and would be very pleased to see our UK Partners rejoining ERN GENTURIS as Full Members!
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Special edition ERN GENTURIS newsletter to celebrate the establishment of the GENTURIS registry.
Posted on 21 June 2023
This special edition newsletter is in celebration of the establishment of the GENTURIS registry. Over the last years the GENTURIS registry has been established and the implementation of the registry is now up and running. This newsletter shows an impression of the GENTURIS registry and gives a tour along all developments.
ERN GENTURIS newsletter June 2023 - GENTURIS registry
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EJP RD ERN GENTURIS Workshop on CDH1 Related Hereditary Diffuse Type Gastric Cancer
Posted on 5 June 2023
12-13 Oct 2023, Radboudumc, Nijmegen, The Netherlands
The registration for the upcoming ERN workshop, organized by ERN GENTURIS member Tanya Bisseling (Radboudumc) is now open:
"CDH1 Related Hereditary Diffuse Type Gastric Cancer: the shift from prophylactic total gastrectomy to optimal endoscopic surveillance". Calling all experts interested in exploring the psychological, molecular, and administrative aspects of CDH1-related hereditary diffuse type gastric cancer! This workshop will offer invaluable insights into the latest research findings and best practices in patient care.
Learn more and register here: https://www.ejprarediseases.org/event/ejp-rd-ern-workshop-cdh1-related-hereditary-diffuse-type-gastric-cancer/
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Online-Symposium: Liquid Biopsy – ctDNA in colorectal cancer and beyond
Posted on 31 May 2023
On July 15th 2023, a free online symposium entitled "Liquid Biopsy – ctDNA in colorectal cancer and beyond" organised by ERN GENTURIS member MGZ - Medizinisch Genetische Zentrum in München will be held via Zoom.
The programme is available here.
Registration is available here.
Date/time: 15 July 2023 9:00 - 14:15 CEST
Cost: Free!
Certification: 5 CME-points
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Successful symposium organized by ERN GENTURIS and ERN EURACAN on "Rare cancers and cancer syndromes"
Posted on 31 May 2023
A successful ERN GENTURIS and Euracan symposium took place on 26 May 2023 on Rare cancers and cancer syndromes in Helsinki, Finland.
Goals of this training: strengthening the cooperation of professionals from Euracan and ERN GENTURIS networks and a joint discussion between patients and professionals.
The following professionals were among the speakers: Prof. Prof. Elke Holinski-Feder Germany (ERN GENTURIS), Prof. Wouter de Herder, Netherlands (Euracan) and Dr. Maria Haanpää, Finland (ERN GENTURIS).
On the picture as well: Prof. Minna Pöyhönen and Dr. Outi Kuismin
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Big news - ERN GENTURIS member Svetlana Bajalica Lagercrantz is the first professor of hereditary cancer in Sweden!
Posted on 17 May 2023
Big news - ERN GENTURIS member Svetlana Bajalica Lagercrantz first professor of hereditary cancer in Sweden!
ERN GENTURIS member Svetlana Bajalica Lagercrantz, MSc, MD, PhD is now the first professor in hereditary cancer in Sweden.
She works at Karolinska University Hospital & Karolinska Institutet.
Big congratulations Svetlana!
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MOOC on Diagnosing Rare Diseases: from the Clinic to Research and back
Posted on 15 May 2023
In the context of the European Joint Programme for Rare Diseases EJPRD, co-developed by ERN GENTURIS and Ithaca, the Foundation for Rare Diseases, and EURORDIS, this Massive Open Online Course (MOOC) addresses the diagnostic research progress, types of genetic tests for rare diseases, and the impact of having or lacking a diagnosis on patients' lives.
The MOOC is continuously open for enrollment and the access to the content is free for the first 5 weeks.
Expert mentors will be readily available on the platform to address any questions that participants may have from May 1st to June 24th.
For more information, please visit:
https://www.futurelearn.com/courses/rare-genetic-disease
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A message from Solve-RD: Time to act!
Posted on 11 May 2023
A message from Solve-RD coordinator Holm Graessner:
To whom it may concern
TIME TO ACT – IMPROVING RARE DISEASE DIAGNOSIS AND SOLVING THE UNSOLVED RARE DISEASE THROUGH COLLABORATION IN EUROPE
The Solve-RD consortium and associated European Solve-RD network, including among others six European Reference Networks, EURORDIS, Orphanet and leading European Rare Disease Clinicians and Researchers in 20 countries, call upon all European RD stakeholders, including EU Member States, the European Commission, the Council of the European Union, the general public and private organisations active in the RD field, as well as the rare disease community at large to act NOW to seize the current once-in-a-generation opportunity to significantly improve RD diagnosis in Europe.
This unique opportunity is characterized by pan-European access to diagnostic technologies in particular Whole Exome Sequencing, the just reached maturity of the European Refence Networks ecosystem, the looming opportunity to share RD data on European-wide scale within the forthcoming European Health Data Space, the upcoming RD-Partnership as well as - with Solve-RD - the availability of a scalable transnational diagnostics research platform.
Solve-RD has summarized the critical action points in this statement.
We call upon all European RD stakeholders to partner to jointly improve Rare Disease diagnosis.
On behalf of Solve-RD
Holm Graessner
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ESMO Preceptorship on Hereditary Cancer Genetics 2023
Posted on 3 April 2023
The ESMO Preceptorship on Hereditary Cancer Genetics 2023 will be held on 29-30 September 2023 in Paris, France.
The course is co-chaired by ERN GENTURIS members Judith Balmaña and Nicoline Hoogerbrugge, and among the speakers are ERN GENTURIS members Stefan Aretz, Marjolijn Ligtenberg, Carla Oliveira and Rolf Sijmons and Supporting Partner Marc Tischkowitz.
This accredited educational course is primarily aimed at oncologists resident in Europe, but application is open to all ESMO members.
Instructions for how to apply can be found here: https://www.esmo.org/meeting-calendar/esmo-preceptorship-on-hereditary-cancer-genetics-2023-paris. The application deadline is 27 June.
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Invitation for Solve-RD Public Symposium on April 26, 2023: The Impact of Solve-RD on Research & Care of Rare Disease Patients
Posted on 22 March 2023
We would like to invite you to our Public Symposium at the Solve-RD Final Meeting 2023: The Impact of Solve-RD on Research & Care of Rare Disease Patients!
The programme is available here.
Date: 26 April 2023
Time: 8:30-12:30 CEST
Location: Prague, Czech Republic & online
Registration: https://us02web.zoom.us/webinar/register/WN_M1qQIxIhTwa37xFgwiAxJQ
Website: https://solve-rd.eu/solve-rd-final-meeting-2023/
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EJP RD – ERN Workshop: Psychological, molecular and administrative aspects of Hereditary breast and ovarian cancer genetic population screening (HBOC GPS)
Posted on 16 February 2023
In the context of EJP RD’s ERN Workshops, a workshop entitled “Psychological, molecular and administrative aspects of Hereditary breast and ovarian cancer genetic population screening (HBOC GPS)” is being organized by ERN GENTURIS member Arvids Irmejs from Pauls Stradins Clinical University Hospital.
- ERN GENTURIS members Rolf Sijmons, Svetlana Lagercrantz, Hildegunn Høberg-Vetti, Jan Lubinski and Richarda de Voer contribute to the programme.
- The in-person event took place on 27-28 April 2023 in Riga, Latvia.
- Registration closed on March 8th .
- This workshop is addressed to clinical geneticists, laboratory geneticists, breast surgeons, gynecologists, oncopsychologists, public health specialists, medical oncologists, radiologists, radiotherapists, pathologists – employees or affiliated to an ERN-Full Member or Affiliated Partner institution.
- More information here.
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EJP RD – ERN Workshop: Desmoid tumors (DTs) in patients with Familial Adenomatous Polyposis (FAP): an interdisciplinary approach
Posted on 16 February 2023
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In the context of EJP RD’s ERN Workshops, a workshop entitled “EJP RD – ERN Workshop: Desmoid tumors (DTs) in patients with Familial Adenomatous Polyposis (FAP): an interdisciplinary approach” is being organized by ERN GENTURIS member Dr Marco Vitellaro.
- The in-person event took place on 22-23 May 2023 at Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, in Milano, Italy.
- This workshop is addressed to physicians, researchers from ERN Full Members or Affiliated Partners from the junior to senior level.
- The Workshop aims to promote networking in the context of EURACAN and ERN GENTURIS, thanks to their mutual focus on DT in FAP, a solid tumor which is both rare and associated to a genetic condition.
- From ERN GENTURIS, Prof. Maurizio Genuardi and Prof. Nicoline Hoogerbrugge contribute to the program.
- More information here.
- Registration was closed on March 31st.
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