Endo-ERN CPMS webinar: How to enroll a patient, start a panel and upload files to a panel

On Tuesday February 23rd at 17:00 CET an Endo-ERN CPMS webinar about „how to enroll a patient, start a panel and upload files to your panel” is organised.

Danielle Steenvoorden from our Operational Helpdesk will give you a live demonstration in CPMS Training Environment followed by a live Q&A.

If you have special requests for this demonstration, you can send an e-mail to cpmshelpdesk@endo.ern-net.eu

Sumar Webinar

WebinarHow to enroll a patient, start a panel and upload files to a panel
Datăfebruarie 23rd, 2021
Time17:00 – 17:30 hr
SpeakerDanielle Steenvoorden
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CPMS Clinical Patient Management System

Endo-ERN webinar: Molecular diagnostic testing of imprinting disorders and related growth disturbances

On Tuesday March 2nd at 17:00 – 18:00 CET an Endo-ERN webinar about “Molecular diagnostic testing of imprinting disorders and related growth disturbances” is organised. The Endo-ERN webinar will be held by Prof Thomas Eggermann from University Hospital Aachen, Germany.

Molecular diagnostic testing imprinting disorders and related growth disorders is challenging due to the broad spectrum of molecular defects. Additionally, the decision on the molecular testing algorithm is hindered by the clinical heterogeneity of these entities. However, the precise identification of the nature of the defect is often a prerequisite for the clinical management and genetic counselling. With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited growth disorders has massively expanded. However, the rapid implementation of these new molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex.

In this webinar, the different types of molecular alterations in patients with imprinting disorders and differential diagnosis will be reviewed, and genetic testing strategies will be explained. Based on own data it will be illustrated that comprehensive testing strategies have to be applied in diagnostic testing of congenital disorders.

The early diagnosis of a genetically based endocrine disorder contributes to a precise management and helps the patients and their families in their self-determined planning of life. Furthermore, the identification of a causative (epi)genetic alteration allows an accurate prognosis of recurrence risks for family planning as the basis of genetic counselling. Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate.

Sumar Webinar

WebinarMolecular diagnostic testing of imprinting disorders and related growth disturbances
Datămartie 2nd, 2021
Time17:00 – 18:00 hr
SpeakerThomas Eggermann
LocațieOnline
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MTG

17th WorldMEN meeting

The WorldMEN meeting has something different compared to all the other classical meetings: it was first created to allow for intense discussions about the discovery of the genetic etiologies of tumor syndrome in 1984. Over the last years, the WorldMEN meetings expanded the scope of their participants to a wide audience of endocrinologists, surgeons, gastroenterologists, oncologists, geneticists and more, all concerned by the diagnosis and management not only of multiple endocrine neoplasia, endocrine tumor syndromes and the various diseases they include (Von Hippel Lindau disease, pheochromocytoma and paraganglioma, pituitary tumors, neuroendocrine tumors, neurofibromatosis, calcium disorders…), but also endocrine cancers in general. Still more than an update on these conditions with the world renown specialists who are at the cutting edge of research, the aim of this meeting is to allow for fruitful scientific discussions around multicentric studies and collaborative projects.

Accordingly, this 17th WorldMEN meeting was organized by inviting experts from all over the world to give you the most updated data on endocrine tumor syndromes during workshops that will leave a large time for discussions, or plenaries on genetics, diagnosis, consequences or treatments of such syndromes. Together with the input of the organizers of previous WorldMEN meetings, we have the support of both national (French Endocrine Society SFE, and the Endocrine Tumor Group GTE) and European Societies (European Neuroendocrine Association ENEA). Last but not least, new international guidelines on pheochromocytoma will be discussed, and updates on MEN1 guidelines will also be presented for the first time.

Sumar Event

Event17th WorldMEN meeting
Dată29 aprilie - aprilie 30th, 2021
LocațieVirtual
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Endo-ERN CPMS webinar: How to invite members to your panel, schedule a video meeting and join a video meeting

On Thursday January 28th at 17:00 – 17:30 CET an Endo-ERN CPMS webinar about “How to invite members to your panel, schedule a video meeting and join a video meeting” is organised.

Danielle Steenvoorden from the Operational Helpdesk will give you an overview of the following steps after opening a patient panel within CPMS: how invite members and schedule and join a video meeting. At the end of this webinar there will be a live Q&A for all your questions.

This is the second part of a series of webinars about CPMS.

The first webinar “CPMS: how to enroll a patient and start a panel” can be found on our website or live followed on the next planned date.

Sumar Webinar

WebinarHow to invite members to your panel, schedule a video meeting and join a video meeting
Datăianuarie 28th, 2021
Time17:00 – 17:30 hr
SpeakerDanielle Steenvoorden
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CPMS Clinical Patient Management System

Rare Disease Day

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Sumar Event

EventRare Disease Day
Datăfebruarie 28th, 2021
OrganizațieEURORDIS
Site webVizitați site-ul web event

Research Training Workshops for ERN members

In September 2020 the EJP RD launched its second call of the “European Reference Networks (ERNs) Training and support program” as part of the ‘Training and Empowerment’ activities that aim to fill the gap in education on rare diseases research.

The “Research Training Workshop” call is aimed at identifying workshop topics to train ERN researchers and clinicians in relevant innovative themes with a cross-ERN added value. Selected applicants will receive financial support for the organization of a 2-days workshop for 20 participants.

Training themes include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Topics have been proposed by the ERNs or by investigators belonging to EJP RD beneficiary institutions.

The second round of submission and evaluation have been finalized in December 2020 and was coordinated by Alberto Pereira. As a result, four workshops were recommended for funding (listed below). The workshops will take place in the upcoming months.

  1. The 8th international conference on Ectodermal dysplasias (Smail Hadj-Rabia, INSERM, Dept of Dermatology, Paris, France)
  2. Trans-ERN Working Group for Spina Bifida Training: Workshop for future research on innovative diagnostic and interdisciplinary treatment (Giovanni Mosiello, Bambino Gesù Pediatric and Research Hospital, Rome, Italy)
  3. ERN multidisciplinary research workshop on diagnostics and treatment of high grade endometrial cancer (Cor de Kroon, LUMC, Dept of Gynaecology, Leiden, the Netherlands)
  4. Endocrine cancer – a challenge in adults and children (Barbara Jarzab, M. Sklodowska-Curie National Research Institute of Oncology, Gliwice, Poland)

The information on their launch and more details will be provided and updated on the EJP RD website.

Această intrare a fost postată în General.

EJPRD internal call for innovation projects in clinical trials methodologies information/network meeting

In the context of the EJP RD internal call for innovation projects in clinical trials methodologies in limited populations, that opened on 7th of December 2020 and will close on 3rd of March 2021, an “Information/Networking Event” will be organized on the 25th of January 2021. The meeting will take place online from 15:00 to 18:30.

All interested applicants are invited to participate in this event. The objectives of the meeting are as follows:

  • Presentation of the call modalities and objectives followed by Q&A session with participants
  • Presentation of various perspectives of the remaining challenges that the present call will target (for example in relation to: use of registries, innovation in methodology space, PCOMS, pharmacogenetic biomarkers and pharmacokinetics development, the vision of regulators on future of RD clinical trials, model for innovating therapy in ultra RDs, ethical guidance)
  • Open session for participants to discuss the gaps that they would like to tackle and initiate partnerships among interested parties.

The registration to the meeting is mandatory and will close on the 18 of January 2021. 

Sumar Event

EventEJPRD internal call for innovation projects in clinical trials methodologies information/network meeting
Datăianuarie 25th, 2021
Time15:00 – 18:30 hr
OrganizațieEJPRD
Site webVizitați site-ul web event
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