News and events

News and events

European Reference Networks support Ukraine

Pinned

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: genturis@radboudumc.nl.

WE ARE HERE TO HELP!

More information on the hub is available here.

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!

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

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

 

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 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.

 

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/

 

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 will take place on 27-28 April 2023 in Riga, Latvia.
• Registration is open here and closes 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.

 

EJP RD – ERN Workshop: Desmoid tumors (DTs) in patients with Familial Adenomatous Polyposis (FAP): an interdisciplinary approach

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.

• The in-person event will take 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 is open here and closes on March 31st.