Endo-ERN General Assembly 2022

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.


Prestigious EJPRD ERN Research Mobility Fellowship for drs. Eva Coopmans and drs. Oana Danila

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/

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Endo-ERN webinar: Update on the management of 46,XX Ovarian Dysgenesis and Primary Ovarian Insufficiency

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 Resumen

WebinarUpdate on the management of 46,XX Ovarian Dysgenesis and Primary Ovarian Insufficiency
Fechaseptiembre 9th, 2021
Time15:00 – 16:00 hr
SpeakerPhilippe Touraine
RegistroRegister for webinar

ERN BOND webinar: EuRR-Bone What and how?»

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.

Webinar Resumen

WebinarEuRR-Bone What and how?»
Fechajunio 28th, 2021
Time17:00 – 18:00 hr
SpeakersNatasha Appelman
Ana Priego Zurita
OrganizaciónERN Bond & EuRR-Bone
Sitio webVisitar webinar sitio web
RegistroEl registro está cerrado

Endo-ERN webinar: Update on congenital hyperinsulinism

On Tuesday July 6th at 16:00 – 17:00 CET an Endo-ERN webinar about “Update on congenital hyperinsulinism” will be given by Oliver Blankenstein, Peter Kühnen, Sebastian Kummer, Alena Welters and Thomas Meissner from Charité – Universitätsmedizin Berlin / Universitätsklinikum Düsseldorf.

Congenital hyperinsulinism is the most frequent cause of severe transient and persistent neonatal hypoglycemia. The etiology and the clinical course are highly variable. Today, we still find a high proportion of patients suffering from hypoglycemic brain damage. This update will focus on the rational approach to evaluation and management of a patient with suspected hyperinsulinism. Efforts to improve the neurological outcome need to focus on the initial management in the first days of life, even before the diagnosis of hyperinsulinism. The further management includes evaluation of clinical presentation as well as laboratory parameters, genetics, PET-scan and histology in those patients that need surgery. Finally, we will discuss new aspects of medical and surgical treatment.

Webinar Resumen

WebinarUpdate on congenital hyperinsulinism
Fechajulio 6th, 2021
Time16:00 – 17:00 hr
SpeakersOliver Blankenstein
Peter Kühnen
Sebastian Kummer
Thomas Meissner
Alena Welters
RegistroEl registro está cerrado

Resource Webinar: hPSCreg

As part of the EJP RD Resource Webinar series, the next webinar will be dedicated to hPSCreg and will be held on June 21st.

The human pluripotent stem cell registry (hPSCreg) maintains resources to track the usage of human embryonic and induced pluripotent stem cell lines from research to clinical applications. Participants will be given an overview of hPSCreg from different stakeholder perspectives (basic and translational researchers, industry, and funders) and will learn about what data is available for each registered line and the benefits of registering lines in hPSCreg.

Webinar Resumen

Fechajunio 21st, 2021
Time15:00 – 16:00 hr
SpeakerNancy Mah
OrganizaciónEJP RD
Sitio webVisitar webinar sitio web
RegistroEl registro está cerrado


In the context of EJP RD’s ERN Workshops, a face-to-face workshop on clinical epidemiological research for ERNs titled “Clinical Research: The Basics & Beyond” (consisting of presentations by experts in the field of epidemiology and a feedback session on the research projects of participants) is being organised by Prof. Olaf Dekkers and Prof. Frits Rosendaal of the Leiden University Medical Center.

The in-person event will take place over two days on 30th September and 1st October 2021 at the Hotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, the Netherlands.

The workshop is open by prior registration and selection to medical specialists affiliated to an ERN Full Member or Affiliated Partner institution and who have a special interest in clinical research with databases. Registration closes on 18th June 2021, and those selected to participate from among the applicants will be informed by 9th July 2021 of their selection.

Workshop Resumen

Fecha30 septiembre - octubre 1st, 2021
UbicaciónHotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, The Netherlands
Sitio webVisitar workshop sitio web
RegistroRegister for workshop

IFCAH Symposium

10 years CAH Research Support

IFCAH is pleased to welcome all patients, patient’s families, researchers and clinicians to share their very last findings on CAH, obtained thanks to 10 years of IFCAH support.

Symposium Resumen

SymposiumIFCAH Symposium
Fechajunio 14th, 2021
Time16:00 – 19:00 hr
Sitio webVisitar symposium sitio web
RegistroEl registro está cerrado