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.
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4th Course in Hereditary Cancer Genetics, Bertinoro, Italy
Posted on 26 September 2022
The 4th Course in Hereditary Cancer Genetics, which took place on 20-23 September 2022, in Bertinoro, Italy, was a huge success. Sixty-two students received training from 15 ERN GENTURIS members. Lectures will be available as on-demand webcast from 26 September through the European Society of Human Genetics: https://www.eshg.org/index.php?id=hereditary-cancer.
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ERN Research Training Workshops call
Posted on 5 Sept 2022
The ERN Research Training Workshops funding opportunity is now open for applications until October 1st. See https://www.ejprarediseases.org/ern-research-training-workshop/
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EJP RD - Last round Research Mobility Fellowships
Posted on 29 Aug 2022
The last round for the Research Mobility Fellowships funding opportunity will open on 3 October 2022. The call aims to support PhD students, postdocs, and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.
Either home or host (secondment) institution must be a Full Member or Affiliated Partner of an ERN at the time when the application is submitted, as well as during the proposed period of the training stay.The research mobility fellowships are meant to cover stays of 4 weeks to 6 months duration.
More information here: https://www.ejprarediseases.org/ern-research-mobility-fellowship/
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Bring Your Own Omics Data (BYOOD) workshop, November 17-18 2022, Nijmegen, the Netherlands
Posted on 24 August 2022
The 2-day workshop “Bring Your Own Omics Data (BYOOD)” will take place on 17th-18th November, face to face in Nijmegen.
Registration: https://erica-rd.eu/event/bring-your-own-omics-data-workshop-byood-workshop-17th-18th-november-2022-nijmegen-nl/
This course will give expert assistance so you can:
- Optimise your data and use the adequate tools
- Integrate your omics data
- Get started with your network analysis
- Continue collaborations with the data analysis team in future use cases
In order to prepare the workshop and adapt it to your needs, please complete the pre-registration form by the 2nd of September 2022 through the following link: https://forms.office.com/r/62EtZpwfV7
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4th Course in Hereditary Cancer Genetics, Bertinoro is open for registration
Posted on 31 May 2022
This course, organised by members of the ERN GENTURIS, aims at delivering up-to-date knowledge on hereditary cancers to clinical and molecular geneticists in training or certified. It creates the best opportunity for interaction and discussion with experts from all over Europe, in the fabulous environment of Bertinoro, the headquarters of the ESHG sponsored courses. The faculty combines experts from many fields of cancer genetics known for their didactic skills. Participants are encouraged to present a clinical or genetic case in a Poster format for on-site discussion.
Date: September 20-23, 2022
Location: Bertinoro, Italy
Organisers: N. Hoogerbrugge, D. Turchetti, C. Oliveira, H. Høberg-Vetti, E. Holinski-Feder
Website: https://www.ceub.it/events/event/4th-course-in-hereditary-cancer-genetics/
For more information, see the flyer and programme
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Workshop "European Reference Networks – More than just a wish?"
Posted on 30 May 2022
At the ESHG Hybrid Conference Vienna, Austria, Carla Oliveira and Bárbara Rivera chair the yearly workshop aimed at presenting and raising awareness about the European Reference Networks. This year the workshop is devoted to the umbrella research infrastructure of Solve-RD and the ERN GENTURIS. Examples of research collaborations and main research projects, registry infrastructures, challenges and benefits will be presented.
Workshop Title: W11- European Reference Networks – More than just a wish?
Date: Monday, June 13, 2022
Time: 14:00 - 15:30 hrs
Session type: Live Event
For more information, see the flyer
EJP RD - European Joint Programme on Rare Diseases workshop entitled "Genetic Biobanks for Rare Disease Research"
Posted on 18 May 2022
The EJP RD Training Workshop Genetic Biobanks for Rare Disease Research is targeted at biomedical researchers, medical professionals, and biobank managers and will take place on June 14th – 15th from 09.00 – 17.00 CEST.
Registration for the workshop is free but mandatory
Registration closes on May 29th, and those selected to participate from among the applicants will be informed of their selection on June 2nd.
For more information and registration, see: https://www.ejprarediseases.org/event/genetic-biobanks-for-rare-disease-research-2/
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EJP RD - European Joint Programme on Rare Diseases - The ERN Research Mobility Fellowships call
Posted on 2 May 2022
EJP RD is glad to announce today (May 2nd) the opening of the call for Research Mobility Fellowships, which aims to support PhD students, postdocs and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.
Deadline: 13 June
The exchange can be carried out (1) within the same ERN (Full Members and Affiliated Partners), (2) between different ERNs (Full Members and Affiliated Partners), or (3) between ERN Full Members / Affiliated Partners and non-ERN institutions.
Either home or host (secondment) institution must be a Full Member or Affiliated Partner of an ERN at the time when the application is submitted, as well as during the proposed period of the training stay.
Successful applicants should acquire new competences and knowledge related to their research on rare diseases, with a defined research plan and demonstrable benefit to the ERN of the home and/or host institution.
The research mobility fellowships are meant to cover stays of 4 weeks to 6 months duration.
More information here
MOOC on Diagnosing Rare Diseases: from the Clinic to Research and back
Third run from April 18th!
Posted on 30 March 2022
The third run of the MOOC (Massive Open Online Course) "Diagnosing Rare Diseases: from the Clinic to Research and back" co-developed by EJP RD, ERN Ithaca, ERN GENTURIS and the French Foundation for Rare Diseases will start on April 18th 2022.
Registration is free and open at this link:
https://www.futurelearn.com/courses/rare-genetic-disease
We specifically encourage medical and biomedical science students to register and follow the MOOC.
Registration for EJP RD ERN workshop is open
Posted on 24 March 2022
Registration for the following EJP RD ERN workshop on 29-30 September in Turku, Finland, co-organised by ERN GENTURIS member Maria Haanpää, is now open:
ERN Workshop on Comprehensive gene profiling, molecular tumor board (mtb) and artificial intelligence in the diagnosis and treatment of patients with rare adult cancers
🚨Registration deadline: 2 June
📆Date: 29-30 September
For more information and registration, see:
Innovation Bootcamp in Rare Diseases 2022
Posted on 21 March 2022
The Innovation Bootcamp in Rare Diseases (IBRD2022) congress will be held in Brussels on October 11th 2022.
The target audience of this event includes all professionals involved in the prevention, treatment and diagnosis of rare diseases and orphan drug research and development, including researchers, clinicians, pharma, policy makers and patient representatives.
https://congresscare.eventsair.com/innovation-bootcamp-in-rare-diseases-ibrd22/
Dutch website on hereditary stomach cancer is online
Posted on 28 February 2022
On 24 February 2022 a new Dutch website on stomach cancer was launched. This informative website with decision aids was created by researchers from the Netherlands cancer institute (NKI) and the Radboud university medical centre (Radboudumc), with support from patients and healthcare professionals.
The website is available here:
https://www.erfelijkemaagkanker.nl/
28 February 2022 = Rare Disease Day
Posted on 28 February 2022
28 February 2022 is Rare Disease Day; a day to raise awareness for patients, families and carers around the world that are affected by rare diseases.
For additional information and resources on Rare Disease Day, check:
rarediseaseday.org and @rarediseaseday on twitter
The European Joint Programme on Rare Diseases (EJP RD) is proud to announce the launch of their Instagram account and a social media collaboration with #raredisease influencer Prof. Lara Bloom, President and CEO of the Ehlers-Danlos Society who will be taking over their Instagram for the day. Follow them here: https://www.instagram.com/ejprarediseases/
BRCA2 Founder pathogenic variant of Portuguese origin
Posted on 18 January 2022
BRCA2 c.156_157insAlu is a founder pathogenic rearrangement of Portuguese origin identified in 8% of index cases and representing 60% of BRCA2 alterations in individuals of Portuguese ancestry. Its presence causes an in-frame deletion of exon 3 and it is deleterious. Its identification might be challenging in case it is not being proactively analysed.
ERN GENTURIS Thematic Group HBOC would like to raise awareness about this alteration and recommend their analysis in families with clinical suspicion of hereditary breast and ovarian cancer and a Portuguese ancestry.
For more technical details, see Peixoto et al. (2011)
23 October is PHTS Awareness Day!
Posted on 21 October 2021
To raise more awareness for the rare genetic tumour risk syndrome PTEN Hamartoma Tumour Syndrome (PHTS), 23 October has been declared as worldwide PHTS Awareness Day.
Currently, the European INSPECT study (Investigation into PTEN-related cancer and phenotype) is ongoing in PHTS patients and is coordinated by Dr. Janet Vos and Prof. Nicoline Hoogerbrugge of the Radboudumc in Nijmegen, the Netherlands. This study aims to unravel the PHTS phenotype and to provide accurate cancer risks and prognoses by using information from medical records, registries and patient questionnaires.
Patients, their representatives, and professionals are kindly invited to join the INSPECT study registration for PHTS patients! Visit www.pten.eu for more information and registration.
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4th EJP RD call for ERN research mobility fellowships is open
Posted on 18 October 2021
Apply here: https://www.ejprarediseases.org/ern-research-mobility-fellowship/
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Apply for Funding for ERN Research Training Workshops
Posted on 6 September 2021
In the frame of the EJP-RD project (European Joint Programme on Rare Diseases), a call for Research Training Workshops is open until 4 October 2021.
Applicants from ERN Full Member or Affiliated Partner Institutions can submit workshop topics on rare diseases research to obtain funds (25.000€) in order to conduct a 2-day workshop.
For more information see https://www.ejprarediseases.org/ern-research-training-workshop/
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ERN GENTURIS 5-year anniversary conference on 10-11 Feb 2022
Posted on 22 July 2021
On February 10th and 11th of 2022, ERN GENTURIS, the European Reference Network on Genetic Tumour Risk Syndromes, will celebrate its 5-year anniversary with a free online conference. Read more
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Registration is open for the 3rd Course in Hereditary Cancer Genetics, 23-24 September 2021
Posted on 28 June 2021
Registration is now open for the third edition of the ERN GENTURIS course Hereditary Cancer Genetics, which will be held online on 23-24 September 2021. The course aims at delivering up-to-date knowledge on hereditary cancer to clinical and molecular geneticists in training or certified. It creates the best opportunity for interaction and discussion with experts from all over Europe.
The flyer can be downloaded here. You can register via this link: https://www.eshg.org/hereditary-cancer.0.html
Hereditary cancers: diagnosed patients are only the tip of the iceberg
Posted on 14 June 2021
Although knowledge on pathogenic germline variants has improved over the years, researchers are hunting for new genetic causes of cancer to better identify families at higher risk to develop the disease. Read the interview with ERN GENTURIS coordinator Prof. Nicoline Hoogerbrugge in the latest edition of ESMO Perspectives.
3rd Course in Hereditary Cancer Genetics will be held online on 23-24 September 2021
Posted on 27 May 2021
The third edition of the ERN GENTURIS course Hereditary Cancer Genetics will be held online on 23-24 September 2021. The course aims at delivering up-to-date knowledge on hereditary cancer to clinical and molecular geneticists in training or certified. It creates the best opportunity for interaction and discussion with experts from all over Europe.
The flyer can be downloaded here. Information on registration will follow soon.
May is PHTS Awareness Month!
Posted on 3 May 2021
PTEN Hamartoma Tumour syndrome (PHTS) is a rare genetic condition that causes an increased risk for certain cancers, benign growths, and neurodevelopmental conditions.
Currently, the European INSPECT study (Investigation into PTEN-related cancer and phenotype) is ongoing in PHTS patients and is coordinated by Dr. Janet Vos and Prof. Nicoline Hoogerbrugge of the Radboud university medical center in Nijmegen, the Netherlands. The INSPECT study aims to unravel the PHTS phenotype and to provide accurate cancer risks and prognoses by using information from medical records, registries and patient questionnaires.
Both patients and professionals are invited to join the INSPECT study registration for PHTS patients aged 16 years and older at https://pten.eu/en/.
Royal decoration for Nicoline Hoogerbrugge
Posted on 29 April 2021
Prof. Nicoline Hoogerbrugge, coordinator of ERN GENTURIS, is appointed by His Majesty as Knight in the Order of the Dutch Lion, a highly prestigious decoration.
On 28 April she was awarded the decoration because of her exceptional academic achievements in the field of hereditary cancer, which include initiating the Radboudumc Center of Expertise for Hereditary cancer and ERN GENTURIS.
See https://www.radboudumc.nl/en/news/2021/royal-decorations
Professor Thierry Frebourg, head of the Department of Genetics of the Rouen University Hospital, dies at 60
Posted on 15 March 2021
This weekend, the Rouen University Hospital, the international clinical genetics society, ERN GENTURIS and the LFS patient community lost one of their major icons.
Professor Thierry Frebourg died unexpectedly on Saturday 13 March. He was the founder and head of the clinical genetics service of the Rouen University Hospital. Thierry Frebourg was an active ERN GENTURIS member from the start, and among his achievements was the clinical guideline for Heritable related TP53-cancer syndrome which was published last year.
Thierry Frebourg will be greatly missed by his family, colleagues, our ERN and the patient community.
ERN Research Mobility Fellowship call open from 15 March - 26 April
Posted on 15 March 2021
The EJP RD ERN Research Mobility Fellowships funding opportunity is now open! It aims to support PhD students, Postdocs & medical doctors in training to undertake scientific visits fostering specialist research training abroad.
More information: https://www.ejprarediseases.org/index.php/training-and-empowerment/ern-trainings/
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Rare Disease Day
28 February 2021
Rare Disease Day takes place on the last day of February each year to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. On rarediseaseday.org you can find information about the thousands of events which were happening around the world on 28 February this year.
Watch EJP RD contributors answer the web’s most search questions about rare diseases in a new video that you can watch here (subtitles available).
Continue rare cancers collaboration with European Reference Networks after Brexit
In a letter published on 26 February in the Lancet, the four ERNs dedicated to rare cancers (EURACAN, EuroBloodNet, ERN GENTURIS, and PaedCan) express the wish to actively continue collaboration with their much-valued UK colleagues. https://doi.org/10.1016/S0140-6736(21)00264-6
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3rd Call for EJP-RD Research Training Workshops open until 7 March
Within the EJP-RD project the 3rd Call for Research Training Workshops is still open until 7 March.
Applicants from ERN Full Members or Affiliated Partners can submit WORKSHOP TOPICS on rare diseases research to obtain funds (25.000€) in order to conduct a 2-day workshop.
For more information you can visit this website: https://www.ejprarediseases.org/index.php/training-and-empowerment/ern-trainings/
ESMO Virtual Preceptorship on Hereditary Cancer Genetics 2021
The ESMO Virtual Preceptorship on Hereditary Cancer Genetics 2021 will be held online on 27 May and is now open for applications!
The course is co-chaired by ERN GENTURIS members Judith Balmaña and Nicoline Hoogerbrugge, and the speakers are all ERN GENTURIS member / Supporting Partner: Stefan Aretz, Gareth Evans, Marjolijn Ligtenberg, Rolf Sijmons and Marc Tischkowitz.
This accredited educational course is primarily aimed at oncologists resident in Europe, but application is open to all ESMO members. There is room for 65 participants.
Instructions for how to apply can be found here: https://www.esmo.org/meetings/esmo-virtual-preceptorship-on-hereditary-cancer-genetics-2021.The application deadline is 6 April.
ERN recommendations on COVID-19 vaccination for patients with rare diseases
Posted on 15 February 2021
All ERN Coordinators have worked together to establish recommendations on the COVID vaccination program for rare disease patients. Prof. Nicoline Hoogerbrugge, as chair of the ERN coordinators group, presented these recommendations to the European Health Security Committee on 10 February. The European Commission will distribute the recommendations to all Member States.
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ERN GENTURIS signed Supporting Partner Collaboration Agreements with 5 UK clinical experts
Posted on 15 February 2021
ERN GENTURIS has signed Supporting Partners Collaboration Agreements with five individual UK experts in the field of genetic tumour risk syndromes. ERN GENTURIS and the individual UK experts agree to work in collaboration, where possible, on areas of common strategic interest.
Although the UK has signed a Trade and Cooperation Agreement with the European Union, this Agreement does not include continued alignment with the Cross-Border Healthcare Directive, within which the European Reference Networks (ERNs) were legally formed. This means that UK centres are no longer able to be Full Members in any of the 24 ERNs and do not have access to the CPMS anymore.
A no-deal Brexit will be detrimental to people with rare diseases
Posted on 12 December 2020
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A letter by ERN GENTURIS member prof Marc Tischkowitz from Cambridge UK, on the detrimental effects of a no-deal Brexit to rare disease patients in the UK, was published in the Lancet this morning: Tischowitz, M et al. A no-deal Brexit will be detrimental to people with rare diseases. Lancet; 12 Dec 2020; DOI: 10.1016/S0140-6736(20)32631-3 The letter has a total of 73 signatories, 54 signatories from UK senior clinicians and researchers who are currently members of an ERN, as well as 19 signatories each representing a patient support group. |
Dutch podcast with ERN GENTURIS coordinator Prof. Nicoline Hoogerbrugge
Posted on 5 November 2020
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In the Dutch podcast series made by Oncologie.nu, ERN GENTURIS coordinator prof. Nicoline Hoogerbrugge was interviewed by prof. dr. ir. Koos van der Hoeven in the episode posted on 4 November 2020. Prof. Hoogerbrugge describes the aims and activities of ERN GENTURIS. The podcast can be accessed via this link
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Second call for ERN Research Mobility Fellowship is now open /
Extended deadline for ERN Reseach Training Workshop call
Posted on 5 October 2020
As part of its educational activities, EJP RD runs a Research Mobility Fellowship Programme dedicated to young researchers in the European Reference Networks (ERNs). PhD students and medical doctors in training from ERN member and Affiliated Partner institutions can apply for funding of short-term (1 to 3 months) training visits at another ERN center outside their country of residence.
The Research Training Workshop Call has been extended until the 12th October 2020
For more information please visit: https://www.ejprarediseases.org/index.php/training-and-empowerment/ern-trainings/
Apply for Funding for ERN Research Mobility Fellowships and Workshops
Posted on 16 September 2020
In the frame of the EJP-RD project (European Joint Programme on Rare Diseases), the second call for Research Training Workshops is open until 28 September 2020.
Applicants from ERN Full Member or Affiliated Partner Institutions can submit workshop topics on rare diseases research to obtain funds (25.000€) in order to conduct a 2-day workshop.
The second call for ERN Research Mobility Fellowship will open on 1 October 2020.
For more information please visit: https://www.ejprarediseases.org/index.php/training-and-empowerment/ern-trainings/
Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
Posted on 7 September 2020
The European Rare Disease Models & Mechanisms Network (RDMM-Europe) was installed within the H2020 project Solve-RD with the aim to link clinicians discovering new genes in patients with rare diseases to basic scientists, who can validate equivalent genes and pathways in model organisms. Solve-RD will provide 50 Seeding Grants (20,000 EUR each) to fund projects that will allow rapid confirmation of potentially disease-causing genes and decipher the underlying molecular disease mechanisms.
If you work with a model system or organism and are experienced with the validation of potentially disease-causing genes you are the very welcome to enter your expertise in the RDMM-Europe registry. The Solve-RD management team uses the registry to recruit appropriate research experts for validation from outside the consortium. That means registration will express an interest in linking to clinicians representing patients with rare diseases and collaborating in projects funded by Solve-RD. Registrants who meet the criteria for a given gene or model system will then be invited to apply for a Seeding Grant.
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ERN GENTURIS webinar on HNPCC related tumour risk syndromes – pathomechanims and clinical implications
Posted on 3 August 2020
This webinar took place on 30 September 2020
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Prof. Elke Holinski-Feder from the Medical Genetics Center München will be the lecturer during this webinar on 30 September 2020 (16:00 CEST). She will focus on known genetic pathomechanisms, cancer risk estimates and surveillance recommendations in HNPCC related tumour risk syndromes like Lynch Syndrome, Lynch-like syndrome and familial colorectal cancer type X. NB A recording of the webinar can be viewed here |
European NF meeting 2020 in Rotterdam rescheduled to 10-13 December 2020
Posted on 21 July 2020
The 19th European neurofibromatosis meeting in Rotterdam, organised by ERN GENTURIS Member Erasmus MC and the patient organisation for neurofibromatosis in the Netherlands (NFVN) is rescheduled to 10-13 December. For more info, see https://nf2020.nl/
ERN GENTURIS webinar on The Genetic Basis of Cancer
Posted on 3 June 2020
This webinar took place on 17 June 2020
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Prof. dr. Marjolijn Ligtenberg, professor in molecular tumour genetics at Radboud university medical center Nijmegen, The Netherlands, will give the monthly ERN GENTURIS webinar in June with a lecture on the genetic basis of cancer. In this webinar it will be discussed that cancer is a genetic disease, although mostly not heritable.This webinar is meant for healthcare professionals.
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ERN GENTURIS webinar on BRCA1 and BRCA2
Posted on 20 April 2020
This webinar took place on 20 May 2020
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Dr. Marc Tischkowitz from the University of Cambridge will share his expertise during the second ERN GENTURIS webinar, which will take place on 20 May, 16:00. The webinar will provide an overview of BRCA1 and BRCA2 from their discovery in the mid 90’s to the current day. It will focus on the known cancer predisposition spectrum, cancer risk estimates, the development of mainstream testing and current controversies in the management of individuals who carry pathogenic variants in these genes. This webinar is meant for healthcare professionals.
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European webpage on ERNs and COVID-19
The European Commission published a European webpage on the ERNs and COVID-19. This page provides a description of the COVID-19 Clinical Management Support System (CMSS), the statement by the ERN Board of Member states and the eNews. This page will become available in all EU languages shortly.
ERN GENTURIS webinar on heritability of cancer
Posted on 25 March 2020
This webinar took place on 15 April 2020
ERN GENTURIS announces its first webinar to take place on Wednesday 15 April, 16:00. Prof. dr. Maurizio Genuardi, professor in medical genetics at Gemelli University Hospital in Rome, will kick off this series of monthly webinars with a lecture on the heritability of cancer. The genetic architecture and the clinical markers of cancer predisposition will be discussed. This webinar is meant for healthcare professionals interested in the heritability of cancer in general and in genetic tumour risk syndromes.
NB A recording of the webinar can be viewed here.
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ECRD conference 2020 moves online on 14-15 May 2020
12 March 2020
In the context of the current COVID-19 pandemic and in line with WHO guidelines, the upcoming European Conference on Rare Diseases & Orphan Products (ECRD) will now take place online on 14-15 May.
For programme and registration, see https://www.rare-diseases.eu/
Apply for Funding for ERN Research Mobility Fellowships and Workshops
3 February 2020
In the frame of the EJP-RD project (European Joint Programme on Rare Diseases), there are two calls for funding opened on 3 February 2020:
- Research Mobility Fellowships and
- Research Training Workshops
Target group ( persons affiliated to ERN Full Members or Affiliated Partners):
- PhD students and young Medical Doctors (having finished their first year of specialist training)
- Researchers/Medical Doctors
Funding:
- for short scientific visits (secondments) of 2 weeks to 3 months fostering specialist research training outside their countries of residence and within one of the ERN host institutions
- organization of 2 day workshops
For more information please visit: https://www.ejprarediseases.org/index.php/training-and-empowerment/ern-trainings/
3rd Course in Hereditary Cancer Genetics in Bertinoro, 20-24 September 2021 22-25 September, 2020
The third edition of the ERN GENTURIS course Hereditary Cancer Genetics will be postponed for a year due to the coronavirus. The course will take place on 20-24 September 2021 in Bertinoro, Italy. The course aims at delivering up-to-date knowledge on hereditary cancer to clinical and molecular geneticists in training or certified. It creates the best opportunity for interaction and discussion with experts from all over Europe.
Participants are encouraged to present a clinical or genetic case in a poster format for on-site discussion. Prizes will be awarded for best presentations.
The 2020 flyer and programme will be updated in due time. Updated information on registration forms and deadlines, fellowship applications, accommodation and venue, will become available at https://www.eshg.org/courses.0.html and www.ceub.it.
Open access paper on Patient Journeys online
6 December 2019
Our open acces ERN GENTURIS paper “Patient Journeys”: improving care by patient involvement" in the European Journal of Human Genetics is now online! It can be downloaded from https://doi.org/10.1038/s41431-019-0555-6.
ECRD 2020
ERN GENTURIS is an associate partner of the 10th European Conference on Rare Diseases & Orphan Products, which will be held in Stockholm, Sweden on 15 and 16 May 2020. The overarching theme is the rare disease patient journey in 2030.
Deadline for poster submissions is 10 February 2020.
EURORDIS-Rare Diseases Europe is also offering patient fellowships for up to 40 patients' advocates to attend this conference. These fellowships aim at empowering patient advocates by offering a platform for networking opportunities, access to information and sharing experiences. Registration for patient fellowships is open until 2 December 2019.
Third annual ERN GENTURIS meeting in Amsterdam
27-28 September 2019
The third annual ERN GENTURIS meeting took place in the Trippenhuis in Amsterdam centre on 27 and 28 September. The draft guidelines for Heritable TP53-related cancer Syndrome (hTP53rc) and PTEN hamartoma tumour syndrome (PHTS) were shown, and the patient representatives presented their position paper.
Call for new members to join existing European Reference Networks open.
The call for new members to join existing 24 ERNs is open from 30 September 2019 until 30 November 2019. For all information, see https://ec.europa.eu/health/ern/consultations/2019_call_membership_en
European NF meeting 2020 in Rotterdam
The 19th European neurofibromatosis meeting will take place in Rotterdam, organised by ERN GENTURIS Member Erasmus MC national NF1 Expertise centre (ENCORE) and the patient organisation for neurofibromatosis in the Netherlands (NFVN). For more info, see https://nf2020.nl/
Cancergenetics.eu website
The ERN GENTURIS website https://cancergenetics.eu, which contains information for health professionals and patients considering a genetic test to look for an inherited cause of cancer, is now available in 11 European languages!
Nicoline Hoogerbrugge elected as vice-chair of the ERN Coordinators Group
24 June 2019
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Nicoline Hoogerbrugge, coordinator ERN GENTURIS, was elected new vice-chair of the ERN Coordinators Group during their meeting on 24 June in Brussels. Irene Mathijssen (ERN CRANIO) took over from Franz Schaefer (ERN ERKNET) as Chairperson. Next year, Nicoline Hoogerbrugge will become Chairperson. |
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ERN workshop in Gothenburg, Sweden
17 June 2019
During the ESHG 2019 in Gothenburg, ERN GENTURIS members Conxi Lazaro (Barcelona) and Carla Oliveira (Porto) organized a workshop entitled: "European Reference Networks - What is in it for me?". This workshop intended to increase awareness about ERNs among of health professionals and scientists working in the field of Genetics in Europe. Besides Nicoline Hoogerbrugge and Elke Holinski-Feder from ERN GENTURIS, Birute Tumiene (BoMS Lithuania), Matt Bolz-Johnson (EURORDIS), Olaf Riess (Co-coordinator Solve-RD) and Alessandra Ferlini (ERN EURO-NMD) contributed to the workshop.
Photo (left to right): Nicoline Hoogerbrugge, Carla Oliveira, Matt Bolz-Johnson, Birute Tumiene.
ERN GENTURIS meeting in Gothenburg, Sweden
14-15 June 2019
Prior to the ESHG (European Society of Human Genetics) meeting in Gothenburg, Members of ERN GENTURIS met to discuss genturis guidelines and communication strategies, and selection of indicators to monitor performance of the network.
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ESMO Preceptorship course on hereditary cancer genetics in Lugano
26-27 April 2019
A huge success for the ESMO Preceptorship Course on hereditary cancer genetics, organised by ERN GENTURIS for young oncologists and for general oncologists wishing to update their knowledge. Fourty-two participants from 17 countries were the lucky ones selected from 150 applications (!). They attended lectures given by 7 ERN GENTURIS Members on 26-27 April 2019, in Lugano, Switzerland. To view the lectures, click here.
Rare Disease Day 2019 conference in Maastricht, The Netherlands
28 February 2019
At the Rare Disease Day 2019 conference in Maastricht, Nicoline Hoogerbrugge (coordinator ERN GENTURIS) and Matt Bolz-Johnson (EURORDIS) highlight the importance of European Reference Networks (ERN) in cross border healthcare for rare diseases. The conference took place within the scope of INTERREG “EMRaDi” (Euregio Meuse-Rhine Rare Diseases) project, and was organized by VSOP (Dutch patient alliance for rare and genetic diseases).
See http://www.emradi.eu/nl/news/56_emr-zeldzameziektendag
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4th Conference on ERNs "ERNs in action" in Brussels
21-22 November 2018
ERN GENTURIS delegates attended the 4th conference on ERNs "ERNs in action", which was held in Brussels on 21-22 November. More than 400 participants – National authorities, healthcare provider members of the ERNs, health professionals, hospital managers, patients' representatives, EU Institutions – shared and discussed the activities of the ERNs and the challenges ahead. For more info see https://lnkd.in/d4T-UeD
Annual ERN GENTURIS meeting in Amsterdam
27-28 September 2018
The annual ERN GENTURIS meeting took place near Schiphol Airport, The Netherlands, on 27 and 28 September 2018. The patient representatives presented the disease specific ‘patient journeys’ they developed, seen from the perspective of the patient and parents. These patient journeys can function as a reference point of pathways and guidelines.
A dedicated CPMS training was given by Jean-Marie Misztela, DG Sante Unit A4 – Information systems & Hany MINA, OpenApp. Daria Julkowska (Inserm) gave a presentation about the European Joint Programme on Rare Diseases (EJP RD) in which ERN GENTURIS will participate. EJP RD is an EU-wide and patient-centred initiative to foster rare disease research from bench to bedside and back and is due to launch in January 2019.
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ERN GENTURIS meeting in Milan
15-16 June 2018
Prior to the European Human Genetics Conference 2018 in Milan, several ERN GENTURIS representatives met on site. Patient representatives Claas Röhl and Claudio Ales and EURORDIS member Matt Bolz-Johnson joined the group. Discussion topics were ePAG activities, development of the national networks, development of patient pathways and clinical guidelines, use of the CPMS and development of data registries.
Funding for PHTS research
June 2018
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Good news! A proposal from Janet Vos, Nicoline Hoogerbrugge and Marleen Kets will receive € 265.000 funding from the UK PTEN Research Foundation.
The aim of this project is
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Janet Vos |
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This will be done via a retrospective cohort study with prospective follow-up via cancer registries and questionnaires. This cohort study will include PHTS families known at the expertise centres participating in ERN GENTURIS as well as families known at collaborative centres of the national ERN GENTURIS centres.
The project will start fall 2018 and will run for two years.
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Dedicated ERN workshop in Portugal
11 May 2018, Lisbon, Portugal
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A dedicated workshop to discuss the impact of the ERNs in Portugal was held on 11 May 2018 during the biannual meeting of the Portuguese Association of Cancer Research. The workshop was organised by Carla Oliveira (National Coordinator Portugal for ERN GENTURIS) and Tamara Hussong Milagre (Patients' Association EVITA, FADOP and ePAG Representative ERN GENTURIS). ERN GENTURIS coordinator Nicoline Hoogerbrugge introduced ERN GENTURIS to the audience. About 100 people attended the workshop; patients and representatives from patient associations as well as doctors, nurses, and company employees. |
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Tamara Hussong Milagre, Nicoline Hoogerbrugge and Carla Oliveira |
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2nd Spring Course in Hereditary Cancer Genetics
24-27 April 2018, Bertinoro, Italy
The 2nd Spring Course in Hereditary Cancer Genetics, which took place on 24-27 April 2018, in Bertinoro, Italy, was a huge success. The 85 participants originated from 20 European countries and 12 countries outside Europe. They received training from 25 ERN GENTURIS members.
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ERN GENTURIS meeting in Amsterdam
13-14 September 2017
A successful meeting of ERN GENTURIS took place on Schiphol Airport, The Netherlands, on 13 and 14 September 2017. The patient groups were represented by Matt Bolz-Johnson, EURORDIS, Claas Röhl (Board member) and Anne Micallef. The discussions about the future actions of ERN GENTURIS were very fruitful.
ERN GENTURIS meeting in Copenhagen
27-28 May 2017
During the ESHG meeting in Copenhagen, 24 ERN GENTURIS members met to discuss their activities for the network. They were joined by Matt Bolz-Johnson (Healthcare and Research director of EURORDIS), and Claas Röhl (ePAG representative and chairman of the Austrian patient organisation for NF patients "NF Kinder"), who gave inspiring talks about the patients' view on the work of ERNs.
Award for recently approved ERNs
9-10 March 2017, Vilnius, Lithuania
ERN GENTURIS coordinator Prof Nicoline Hoogerbrugge received a certificate from EC Commissioner Andriukaitis during the award ceremony for the recently approved ERNs at the 3rd Conference on European Reference Networks.The Conference focused on the presentation of the newly approved European Reference Networks.The conference hosted round tables to discuss on the EU dimension of the ERNS, how the EU, its policies and actions can support the networks, the integration of the ERNs with the various national healthcare systems and the way forward.The audience was constituted by clinicians, policy makers, ERN members, patients representatives, EU institutions representatives and other stakeholders.
Presentations and videos from the event are available here.
ERN GENTURIS approved
16 December 2016
On 15 December 2016 the European Reference Network Board of Member States officially approved 23 ERNs, among which GENTURIS.