News and events
All 24 European Reference Networks (ERNs) launched a dedicated website (https://www.rarediseaseshub4ua.org/) and social media campaign (#ERNcare4Ua & https://www.erncare4ua.com/) to collect information to help health professionals find support for Ukrainian patients with rare diseases: diagnosis, treatment, advice.
With the ongoing war, a large number of Ukrainian citizens have very difficult access to care in Ukraine or are fleeing to EU countries, mainly Eastern ones for the time being. Many of those refugees have or will have health problems. EU governments have clearly committed to ensure adequate healthcare to those refugees, including patients requiring chronic treatments.
Some of those Ukrainian citizens will however suffer from one of the known 6000 rare diseases, like about 6% of the European Union Population. For those disorders, sometimes very rare, expertise is often lacking in many regions or even countries, and treatments may be very expensive and/or difficult to obtain in many centers.
Our 24 ERNs for rare diseases networks are specialized in the diagnosis and treatment of rare/very rare illnesses in each of the 24 medical specialties. They include hospitals (healthcare providers or HCP) and university centers, distributed in most or all EU countries (depending on the ERN), including in EU countries neighbouring Ukraine.
The Coordinators of the 24 European Reference Networks (ERNs) have also issued a statement to support people with Rare Diseases and Complex Conditions affected by the war in Ukraine.
If you are a patient with a genetic tumour risk syndrome coming from Ukraine or a treating physician and you require medical assistance, please contact us at: email@example.com.
WE ARE HERE TO HELP!
More information on the hub is available here.
Posted on 17 May 2023
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!
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:
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
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 Partners Gareth Evans and 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.
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
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.
Posted on 16 February 2023
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.