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 3 February 2023
With the publication of the Editorial paper “European collaboration on genetic tumour risk syndromes” by Hildegunn H. Vetti, Ignacio Blanco and Fred H. Menko,the ERN GENTURIS special issue of the European Journal of Medical Genetics is now complete, containing 13 publications by ERN GENTURIS members.
An overview of ERN GENTURIS publications is available here.
Posted on 25 January 2023
Registration for this EJP RD ERN workshop on 29-30 September in Turku, Finland, co-organised by ERN GENTURIS member Maria Haanpää, is now open
🚨 Registration deadline: 2 June
📆 Date: 29-30 September
For more information and registration, see:
Posted on 17 January 2023
The open-access publication on the ERN GENTURIS guidelines on Neurofibromatosis 1 is now online: doi.org/10.1016/j.eclinm.2022.101818.
Additional information is available on our new Neurofibromatosis 1 guideline webpage
Posted on 28 November 2022
Picture by Ana Rita Barbosa de Matos, i3S, Porto
An international team, led by Carla Oliveira, from the Institute for Research and Innovation in Health of University of Porto (i3S), published a study in the Lancet Oncology journal identifying the alterations in the CDH1 gene that specifically increase the risk of developing cancers associated to Hereditary Diffuse Gastric Cancer (HDGC) syndrome. This study has also defined three new clinical criteria, in addition to those currently used, which will be fundamental to identify families at risk for genetic testing, and to act prophylactically in order to prevent the development of these oncologic diseases of extremely high mortality.
Posted on 24 November 2022
The Coordinators of all 24 European Reference Networks (ERNs) and the Project Managers met in Lyon, France on Tuesday 22 November 2022 to discuss the ERNs achievements and steps towards a sustainable system.
The meeting was focused on ERN sustainability, ERN research collaboration, selecting optimal measurable indicators for a cross-EU healthcare network and exchanging ideas on the future model for financing the use of the Clinical Patient Management System (CPMS). The HUB4Ukraine was also discussed.
Posted on 18 November 2022
The EJP RD Joint Transnational Call, a funding opportunity for research projects, will be launched on December 12th.
Topic: Natural History Studies addressing unmet needs in Rare Diseases
The objective of this call is to conduct efficient, innovative and high-quality natural history studies which will facilitate understanding of the disease’s or group of disorders’ progression throughout the lifespan of a patient. The goal of these studies is to collect and analyze comprehensive patient data to define targets for future therapies, taking into consideration innovation, safety, and efficacy.
An information webinar will be held on December 15th for potential applicants (registration via https://forms.office.com/r/CLYFTuzRyw)
Timetable, contact, and more information about the call are available here: https://www.ejprarediseases.org/joint-transnational-call-2023/
Posted on 5 November 2022
A free EJP-RD training on "Biobanking in rare diseases: the Poland experience" will take place online on 28-29 November 2022. The training is dedicated to scientists in the biomedical sector who want to learn about biobanking standards in Rare Disease research.
Registration deadline: 10 November 2022.
Posted on 2 November 2022
Mentors and educators, experts in the field, are actively present on the platform to answer the students’ questions between 19 September and 3 December 2022. Take the opportunity to interact with them!
This course is organized within EJP-RD by ERN GENTURIS member Chrystelle Colas, ERN ITHACA member Laurence Faive, and EURORDIS director Roseline Favresse. Registration is still possible via: https://www.futurelearn.com/courses/rare-genetic-disease
We specifically encourage medical and biomedical science students to register and follow the MOOC.