News and events
News and events
ERN GENTURIS guidelines on Constitutional Mismatch Repair Deficiency (CMMRD) published in European Journal of Human Genetics
Posted on 21 October 2024
The open-access publication “ERN GENTURIS guideline on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management” is now online: https://www.doi.org/10.1038/s41431-024-01708-6
Additional information is available on our new CMMRD guideline webpage.
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Meeting on hereditary cancer and genetic counselling in the Nordic countries
Posted on 28 September 2024
Many of us have discussed the idea of closer Nordic collaboration in the field of hereditary cancer, inspired by and as a spin-off of ERN GENTURIS. We are happy to inform you that our first meeting will take place on November 12th in Skien, Norway!
The timing and location were chosen because the annual Norwegian national genetics conference will be held in Skien on November 13th-14th, providing a great opportunity to connect with an extended network of colleagues in genetics
Date: November 12
Location: Skien, Norway
Programme: Nordic meeting Hereditary Cancer_prelim program.pdf
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5th Course in Hereditary Cancer Genetics in Bertinoro, Italy, 17-20 September 2024.
Posted on 25 September 2024
77 students from 23 EU member states, Norway, the UK and 4 other non-EU countries participated in the 5th Course in Hereditary Cancer Genetics in Bertinoro, Italy on 17-20 September 2024.
Prof. Nicoline Hoogerbrugge and Dr. Daniela Turchetti chaired the course. The participants could learn about i.a. the genetic mechanisms of cancer, heritability of cancer and life-time risk, various tumour syndromes including: hereditary breast and ovarian cancer, neurocutaneous tumour syndromes, Li-Fraumeni syndrome, and much more.
This course, organized by the ERN GENTURIS members, provides up-to-date knowledge on hereditary cancers for both clinical and molecular geneticists in training or already certified. The expert faculty, known for their teaching skills, covers a wide range of topics in cancer genetics.
Check the full agenda: 2024-Program-5th-Course-in-Hereditary-Cancer-Genetics_updated-August.pdf (ceub.it)
!! TOP NEWS !!
We are offering a virtual edition of this course with on-demand access to all recorded talks
Registration for this is now open (60€ per person): Registration - Virtual Edition (eventsair.com)
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Isabel Claro. Gastroenterologist leaves her mark at IPO Lisboa.
Posted on 13 September 2024
IPO Lisboa is in mourning. Isabel Claro has passed away at the age of 57. Too soon. The gastroenterologist began her career at IPO Lisboa, where she completed her specialty internship after graduating (1994) from the Faculty of Medicine of the University of Lisbon.
It was at IPO Lisboa that she developed her entire career, leaving a legacy and a mark that will last for generations to come. It was here, at this hospital, that she distinguished herself through her work and dedication to the areas she loved most: Family Risk and Neuroendocrine Tumors.
During her career, Isabel Claro was the director of the Gastroenterology Service (since 2020), participated in the creation of the Multidisciplinary Group for Neuroendocrine Tumors in 2009, and was also the coordinator of the Family Risk Consultation (CRF), which assesses patients with cancer and/or a family history of cancer to determine family risk in the area of Colon and Rectal Cancer (since 2011). “This area has developed immensely and helped to promote the name of IPO Lisboa nationally and internationally”, as highlighted by Isadora Rosa, current director of the Gastroenterology Service. She also recalls the valuable contribution of her colleague who, in 2013, led an innovative research project in the area of colon cancer, as the figures showed that 30% of cases result from family inheritance passed from parents to children.
Also in the area of Neuroendocrine Tumors, the gastroenterologist “was the great reference” and was always available to deepen and share her knowledge in lectures, conferences and several international meetings.
Isadora Rosa remembers her colleague and friend with admiration and affection and will always remember her as a person “who was very thoughtful and who resolved conflicts: she was very special. Very calm, sensible and conveyed security and tranquility to everyone. She was a very loved person, both by the Institute and by her patients”.
Isabel Claro will be missed. She leaves us after a period of prolonged illness, the same illness she knew well and helped so many to treat.
The Board of Directors of IPO Lisboa sends its sincere condolences to her family, colleagues and friends. On this day of mourning, and every day, Isabel Claro’s qualities and all the commitment and dedication she provided to the Institute over the years will be remembered.
Isabel Claro was a representative of ERN GENTURIS at IPO Lisboa. For the original statement from IPO Lisboa (in Portuguese), please see:
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ERN GENTURIS PhD defence: 'Cancer Risk and Care in PTEN Hamartoma Tumour Syndrome'
Posted on 10 September 2024
One of the first ERN GENTURIS PhD defences took place at Radboud University on Thursday, September 5, 2024.
Linda Hendricks presented her work about 'Cancer Risk and Care in PTEN Hamartoma Tumour Syndrome'.
Some messages she shared in her work include:
- Women with PHTS have a higher risk of breast, endometrial and thyroid cancer & and men of thyroid cancer
- All patients diagnosed with breast cancer before the age of 40 years should undergo testing for PTEN germline variation
- PHTS cancer surveillance should focus on breast cancer, endometrial cancer, and thyroidcancer
- No histological cancer subtypes should be included in the criteria for PHTS identification
- PHTS patients should receive lifestyle counselling
- There is a benefit for PHTS patients to be treated in a PHTS expertise center
- International collaborations are essential for high-quality research on the very rare syndrome of PHTS.
The research was done with the help of 31 healthcare providers from 16 EU member states, the ERN GENTURIS members.
On the picture: Linda Hendricks (in the middle) together with Co-Promoter Dr Janet Vos and Promoter Prof. Nicoline Hoogerbrugge.
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September is childhood cancer awareness month
Posted on 4 September 2024
Some of the childhoodcancer are hereditary, incuding rare genetic tumour risk syndromes (genturis):
- Constitutional Mismatch Repair Deficiency (CMMRD)
- Tumour Predisposition Syndromes (RTPS1/RTPS2)
- Fanconi anemia
- Hereditary pheochromocytoma-paraganglioma
ERN GENTURIS is committed to:
- Delivering diagnosis faster,
- Ensuring every child has access to the best possible care,
- Sharing knowledge on hereditary childhood cancers among healthcare professionals.
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ERN GENTURIS guidelines on BHD syndrome published in European Journal of Human Genetics
Posted on 12 August 2024
The open-access publication “ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome” is now online: https://doi.org/10.1038/s41431-024-01671-2
Additional information is available on our new BHD syndrome guideline webpage.
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ERN EURACAN and ERN GENTURIS present: Rare cancers and cancer susceptibility syndromes training session, 24 May 2024, Helsinki, Finland
Posted on 15 May 2024
The training is free of charge and organized by the Southern Cancer Center and the Sisä-Suomen Syöpäkeskus. In the ERN GENTURIS session chaired by Maria Haanpää, Sirkku Peltonen will present the new NF1 follow-up recommendations, and Minna Pöyhönen will present the ERN registries.
Location: Hilton Helsinki Kalastajatorppa, Kalastajatorpantie 1, Helsinki
Time: 24 May 2024 from 8:30 a.m. to 3:05 p.m
Registration: anne.kairenius@hus.fi
Training goals:
- Strengthening the cooperation of professionals from the ERN EURACAN and ERN GENTURIS networks
- Joint discussion between patients and healthcare professionals
- The training includes two expert lectures:
- Prof. Stefan Aretz, ERN GENTURIS will give a lecture about: Hereditary tumor syndromes: diagnosis, network structures, and variant classification.
- Prof. Jean-Yves Blay, EURACAN will give a lecture about: Genome screening aiming at precision treatment in rare cancers - for who, what tests and when?
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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: No longer available.
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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ERN GENTURIS special issue EJMG
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.
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ERN GENTURIS guidelines on Neurofibromatosis 1 published in eClinicalMedicine
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
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ERN GENTURIS study published in Lancet Oncology highlights high risk mutations associated with the development of Hereditary Diffuse Gastric Cancer related cancers
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.
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ERN coordinators meeting in Lyon, France
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.
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EJP RD Joint Transnational Call, a funding opportunity for research projects
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/
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Free EJP-RD training on "Biobanking in rare diseases: the Poland experience"
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.
More information:https://www.ejprarediseases.org/event/ejp-rd-training-biobanking-in-rare-diseases-the-poland-experience/
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Meet the expert teachers from the free course"Diagnosing Rare Diseases: from the Clinic to Research and back"
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.
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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
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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
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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.
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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:
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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/
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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/
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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/
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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)
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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
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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.
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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/.
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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
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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.
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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).
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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/
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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.
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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.
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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.
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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/
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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/
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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 |
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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/
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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.
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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/
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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/
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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.
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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.
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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.
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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.
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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
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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/
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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!
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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.
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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.
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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
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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.
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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.
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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.
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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.
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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.
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