Read the February-March edition of the Endo-ERN newsletter now! It features a report on our third annual General Assembly, the first EndoRARE webinar, past meetings, and upcoming meetings! Pokračovat ve čtení
The ESPE science symposium aims to promote the development of an interactive network between clinicians and researchers, helping to reduce the gap between research and patient care. It will also provide the means to disseminate new scientific knowledge in the community of paediatric endocrinology. The symposium is organized every two years by a Local Organizing Committee (LOC) selected through an application process by the ESPE Science Committee.
Its focus will be ‘Congenital adrenal hyperplasia: from molecular medical research to clinical application’ and it will be supported by the Endo-ERN and the ESPE DSD Working Group.
The symposium will consist of interactive lectures by renowned scientists in the field with the aim of covering the main topics in CAH. We invited top clinical and basic researchers from all over the world with main research focus on CAH. There will also be discussions and networking time in the group.
The European Joint Programme on Rare Diseases has launch the ERN Research Training Workshops funding opportunity. The goal of the workshops is to train researchers and clinicians affiliated to ERN- Full Members or – Affiliated Partners in relevant topics on research in rare diseases. Training themes may include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Moreover, the workshops will be aiming to provide a cross-ERN added value.
The workshops will be delivered as two-day events. The costs for the workshop organization will be covered up to a limit of €25.000 (venue, administrative, audio-visual and IT facilities essential for the workshop, catering, travel and accommodation expenses of workshops participants and invited speakers, if envisaged).
The workshops selected for funding will be attended only by individuals affiliated to ERN institutions. Participants will be selected by the coordinator of the ERN managing institution and the workshop organizer based on pre-defined criteria.
The applicant submitting workshop topics must fulfil one of the following conditions:
- Affiliated to any EJP RD beneficiary institution
- Affiliated to an ERN Full Member
- Affiliated to an ERN Affiliated Partner institution at the time when the application is submitted, as well as during the period of the execution of the workshop.
Application and more information here.
On Tuesday November 16th at 14:00 – 17:00 CET an Endo-ERN symposium with multiple speakers within the main thematic group of Growth & Genetic Obesity Syndromes is organised.
Prader Willi Syndrome (PWS) Clinical management of transition of care
2:00 – 2:30 Introduction – PWS as a model of hypothalamic obesity (Maithé Tauber- FR)
2:30 – 3:00 PWS and transition of care – focus on psychology (Tony Holland – UK)
3:00 – 3:45
PWS and transition of care – endocrine care of the young adults
Adrenal insufficiency and hypogonadism (Laura De Graaff – NL)
Growth hormone treatment (Charlotte Højbye – SE)
3:45 – 4:00 Break
4:00 – 4:20 Coordination of transition and management of transitional care for patients with rare endocrine disorders (Christine Poitou + coordinator)
4:20 – 4:50
Patient’s view on PWS and transition of care
The parent’s view (Berit Otterlei – NO)
The patient’s view (tbc)
4:50 – 5:00 Concluding remarks (Christine Poitou and Maithé Tauber)
|Webinar||Growth & Genetic Obesity Syndromes – Prader Willi Syndrome (PWS) Clinical management of transition of care|
|Datum||16 listopaduth, 2021|
|Time||14:00 – 17:00 hr|
|Speakers||Maithe TauberTony Holland Laura de GraaffCharlotte HöybyeChristine Poitou|
On Tuesday September 7th at 17:00 – 18:00 CET an Endo-ERN webinar about “Overgrowth syndromes: Beckwith Wiedemann syndrome and other rare conditions” will be given by Frédéric Brioude from Hôpital Armand-Trousseau in France.
Overgrowth syndromes are a heterogeneous group of rare disorders characterized by generalized or segmental excessive growth, that can be associated with other features, including macrocephaly or cognitive impairment. These syndromes are caused by either genetic or epigenetic anomalies affecting factors involved in cell proliferation and/or the regulation of epigenetic markers. Overgrowth syndromes are frequently associated with an increased risk of cancer (embryonic tumours during infancy or carcinomas during adulthood), but with a highly variable prevalence, leading to the establishment of screening programs for tumors for some of these rare diseases.
Among these syndromes, Beckwith Wiedemann syndrome (BWS) is an imprinting disorder, characterized by (among others) macroglossia, abdominal wall defects, visceromegaly and hemihyperplasia. This syndrome is mainly due to epigenetic defects (i.e. loss or gain of methylation) within the 11p15 region. Tumour risk is highly dependant on the subtype of molecular defects; thus, this observation led to international recommendations for tumour screening that are stratified depending on the molecular aetiology. Since this consensus in 2018, new data regarding the prevalence and age of occurrence of tumours in BWS have been published, that might lead to new recommendations in the future.
Despite the syndromes having overlapping clinical features, some specific symptoms make it possible to discriminate between different syndromes, allowing specific molecular explorations. However, next-generation sequencing approaches are used nowadays, increasing the number of patients with an identified molecular defect
|Webinar||Overgrowth syndromes Beckwith Wiedemann syndrome and other rare conditions|
|Datum||7 záříth, 2021|
|Time||17:00 – 18:00 hr|
Are you interested in improving hormone measurements and implement your research findings into clinical practice?
In a joint research project, the departments of Endocrinology at Ghent University and KU Leuven are currently hiring two enthusiastic and highly motivated PhD researchers to participate in our new research project “Better estimates of hormonal exposure to improve diagnosis and treatment in endocrine diseases”. This project is funded by the TBM program of FWO Vlaanderen (Applied Biomedical Research with primary social finality) for a period of 4 years and will start October, 1st 2021. Pokračovat ve čtení
Read more about the Endo-ERN symposium at ESPE online, upcoming webinar & recordings, the ERN Exchange programme newsletter and much more!
The Endo-ERN General Assembly 2022 will be held on Tuesday 15 and Wednesday 16 February 2022 in Milan, Italy. The day prior to the General Assembly EuRRECa will hold their annual meeting.
If the COVID-19 situation at that time doesn’t allow to hold a face to face meeting, we will of course try to find flexible and suitable alternatives.
The Research Mobility Fellowships of the European Joint Program on Rare Diseases (EJP RD) – The European Reference Networks (ERN) are awarded twice a year to a leading physician or researcher to gain new competencies and expertise in a European institution that specializes in research on rare diseases.
Eva Coopmans is a physician and researcher at the Center for Endocrine Tumors Leiden under the supervision of Prof. A.M. Pereira Arias and Prof. N.R. Biermasz. She received the EJP RD – ERN fellowship for ‚GH-secreting pituitary tumours: nip therapy resistance in the bud (pilot study)‘. With this fellowship she can address the role of AIP- and GNAS-mutations in somatostatin analogue responsiveness in vivo at the William Harvey Research Institute (WHRI), Queen Mary University of London (QMUL) under the supervision of Prof. Korbonits, one of the world-leading authorities in rare pituitary tumours genetics.
Oana Danila is an endocrinologist in training at the National Institute of Endocrinology C.I.Parhon, Bucharest in Romania. She received the EJP RD – ERN fellowship for “The influence of Growth Hormone excess secretion on the evolution of Fibrous Dysplasia in patients with McCune Albright Syndrome: a case control study”. With this fellowship she intends to establish if there is a connection between fibrous dysplasia lesions and growth hormone excess secretion and to gain experience in evaluating patients with McCune Albright Syndrome at the LUMC under supervision of Dr Appelman-Dijkstra, a world expert in Bone Metabolism.
For more information about the EJP RD Research Mobility Fellowships and funding possibilities: https://www.ejprarediseases.org/our-actions-and-services/funding-opportunities/funded-projects/ern-trainings-2/
On Thursday September 9th at 15:00 – 16:00 CET an Endo-ERN webinar about “Update on the management of 46,XX Ovarian Dysgenesis and Primary Ovarian Insufficiency” will be given by Philippe Touraine from APHP-Pitié Salpêtrière Hospital in France.
Primary (premature) ovarian insufficiency (POI) is defined as a loss of ovarian activity before the age of 40, and is characterized by menstrual disturbances (amenorrhea or oligomenorrhea) with elevated gonadotropins (follicle-stimulating hormone [FSH] ≥ 25 IU/L) and low serum estradiol levels.The incidence of POI is around 1 per 100 women overall, and 1 per 1000 women under the age of 30 years. POI leads to infertility and an increased risk of osteoporosis and cardiovascular disease. Different mechanisms are known to be involved in the pathogenesis of POI: decreased primordial follicular pool at birth, accelerated follicular atresia, or a dysfunction of follicular growth. Several causes of POI have been identified, including autoimmunity or iatrogenic causes like chemotherapy or ovarian surgery. Some authors have also suggested environmental causes. Genetic disorders involved include not only Turner syndrome (4-5% of cases of POI) and FMR1 (Fragile X Mental Retardation type 1) gene premutation (3% to 15% of cases of POI), but also monogenic disorders (syndromic or non syndromic). Around 70% of cases remain unexplained, though some of these cases of idiopathic POI may be linked to genetic abnormalities. In recent years, new genetic screening techniques have identified genetic alterations that may be linked to POI. Many familial studies have identified mutations involved in POI, and a few cohort studies have described variants of candidate genes or copy number variants. The webinar will be the opportunity to discuss the clinical management of POI patients and the different genetic strategies to be proposed.
|Webinar||Update on the management of 46,XX Ovarian Dysgenesis and Primary Ovarian Insufficiency|
|Datum||9 záříth, 2021|
|Time||15:00 – 16:00 hr|
On Monday June 28th at 17:00 – 18:00 CET an ERN BOND webinar about “EuRR-Bone: what and how?” will be given by Natasha Appelman-Dijkstra and Ana Priego Zurita.