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! Continuar leyendo
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|
|Fecha||septiembre 9th, 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.
Read more about ERN Workshop, upcoming webinars, ERN Exchange programme and much more!
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||Update on congenital hyperinsulinism|
|Fecha||julio 6th, 2021|
|Time||16:00 – 17:00 hr|
|Speakers||Oliver BlankensteinPeter KühnenSebastian KummerThomas Meissner|
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.
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||THE BASICS & BEYOND WORKSHOP IN CLINICAL EPIDEMIOLOGICAL RESEARCH FOR ERNs”|
|Fecha||30 septiembre - octubre 1st, 2021|
|Ubicación||Hotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, The Netherlands|
|Sitio web||Visitar workshop sitio web|
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.