ERN – EJP RD – European Joint Programme on Rare Diseases

New training: ERN biological samples in Rare Diseases research: Added value and usefulness

Onakoy Tanguy — Fri, 07 Apr 2023 10:24:13 +0000

A new EJP RD training course called “ERN Biological Samples in Rare Diseases Research” is set to take place on June 12th in Madrid, Spain, aimed at biomedical researchers, medical professionals, and biobank managers.

The course will cover the path to follow for exploiting the high value of the ERNs (European Reference Networks) biological samples repositories in the rare diseases (RD) research.

Attendees will learn about the role of ERNs samples and how to optimize them for networking and research networks.
Don’t miss this opportunity to enhance your knowledge and skills in the field of rare diseases research!

More information here

New EJP RD – ERN Workshop on Fetal and Postnatal multidisciplinary management in Rare Diseases – Myelomeningocele (MMC) and Lower urinary tract obstruction (LUTO)

Onakoy Tanguy — Wed, 22 Mar 2023 14:30:03 +0000

In the context of EJP RD’s ERN Workshops, a workshop on “on Fetal and Postnatal multidisciplinary management in Rare Diseases – Myelomeningocele (MMC) and Lower urinary tract obstruction (LUTO)” is being organized by Giovanni Mosiello, Rafal Chrzan, Jean Marie Jouannic, and Giovanni Montini.

The in-person event, which aims to train healthcare providers from different ERNs involved in the clinical research on MMC and LUTO, will take place on 4-6 June 2023 in Krakow, Polad.

Registration is open here, and closes on 16 April 2023.

This workshop is addressed to healthcare providers working together with ITHACA, eUROGEN and ERKNet: Foetal surgeon, neonatologist, nephrologist, neurosurgeon, obstetrician, radiologist, paediatric urologist who are involved in the management of MMC and LUTO might be interested to participate in this event. The workshop might be of a great value for all ERN researchers.

More information here

Webinar: Primary Obstructive Megaureter (POM): Predictors of Success and Failure after Balloon Dilatation

Onakoy Tanguy — Wed, 15 Feb 2023 13:28:58 +0000

ERN eUROGEN and ERNICA are organising a 1-hour webinar entitled “Primary Obstructive Megaureter (POM): Predictors of Success and Failure after Balloon Dilatation” on February 22nd, 2023 at 18:00 CET.

Registration is open here

In this webinar aimed at healthcare professionals, Dr Sonia Pérez-Bertólez and Dr Oriol Martín-Solé, Consultants in the Department of Paediatric Urology at Hospital Sant Joan de Déu Barcelona (ES), will review the endoscopic technique step by step, its indications and the results of endoscopic treatment of primary obstructive megaureter, used at their centre as the first treatment option since 2007.

Reviewing over 50 patients treated at their centre from 2007 until now, with long-term follow-up in most, they will expose the main risk factors for treatment failure and the need for reimplantation after endoscopic treatment.

Those who attend the webinar live will receive a Certificate of Attendance (unaccredited).

ERN Webinar: Patients with Trisomy 21 and ARM Versus Patients with ARM Without Fistula

Onakoy Tanguy — Wed, 08 Feb 2023 08:25:05 +0000

ERN eUROGEN are organising a webinar dedicated to healthcare professionals and patient groups on Wednesday, 8 February at 18:00 CET. Dr Eva Amerstorfer, Consultant (Department of Pediatric and Adolescent Surgery, University Hospital Graz, AT) and Dr Inbal Samuk, Director of Colorectal Services (Pediatric and Adolescent Surgery Department, Schneider Children’s Medical Center, Petah Tikva, IL) will present this webinar.

About 5% of children with Trisomy 21 are born with an ARM, which in up to 95% of patients is classified as an ARM without fistula. ARM without fistula is itself a rare, distinct anomaly in the spectrum of anorectal malformations and occurs in 5% of all patients with ARM.

Features of this type of anomaly will be described, as well as the results of a study conducted by the ARM-Net Consortium on the clinical characteristics and one-year outcome of patients with Trisomy 21 and ARM and patients with ARM without fistula. Management and outcome parameters will be compared between these patient groups.

While both patient groups require special attention in their management, treating physicians need to be aware of associated pathologies in patients with Trisomy 21, which can influence bowel function and outcomes.

New EJP RD – ERN Workshop: Desmoid tumors (DTs) in patients with Familial Adenomatous Polyposis (FAP): an interdisciplinary approach

Onakoy Tanguy — Mon, 23 Jan 2023 08:35:37 +0000

In the context of EJP RD’s ERN Workshops, a workshop entitled “Desmoid tumors (DTs) in patients with Familial Adenomatous Polyposis (FAP): an interdisciplinary approach” is being organized by Dr Marco Vitelarro.

The in-person event will take place on 22-23 May 2023 at Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, in Milano, Italy.

Registration is open here, and closes on March 7th.

This workshop is addressed to physicians, researchers from ERN Full Members or Affiliated Partners from the junior to senior level.

More information here

EJP RD – ERN Workshop: RARE TOGETHER

Onakoy Tanguy — Tue, 06 Dec 2022 13:43:58 +0000

In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “EJP RD – ERN Workshop: RARE TOGETHER” is being organized by Dr Rosanne Smits from Radboud University Medical Center.

The in-person event will take place on 8-9 May 2023 at Van der Valk Hotel in Nijmegen-Lent, The Netherlands.

Registration is open here, and closes on February 1st.

The workshop, open to all research levels and aims to to raise awareness for the psychosocial impact of having a rare disease and form a group of researchers in the mental well-being and social sciences domain for rare diseases.

More information here

EJP RD – ERN Workshop: New Therapeutical Approaches for Inherited Retinal Dystrophies

Onakoy Tanguy — Wed, 23 Nov 2022 14:09:38 +0000

In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “EJP RD – ERN Workshop: New Therapeutical Approaches for Inherited Retinal Dystrophies” is being organized by Dr Regina Rodrigo.

The in-person event will take place on 27-28 March 2023 at CIPF – Príncipe Felipe Research Center, Eduardo Primo Yúfera, 3, 46012, Valencia, Spain.

Registration is open here, and closes on December 31st.

The workshop, open for beginners and medium level researchers – junior physicians and scientists, will give an update on basic and translational research related to new therapeutic approaches for IRDs. It will bring together European experts and trainees to improve the training of young researchers on IRDs and latest therapies. Participants and speakers will involve representatives from ERN-EYE partners and non-ERN-EYE partners.

More information here

ERN EURO-NMD : 4th Neuromuscular Translational School coming soon

Loranne Charrier — Wed, 21 Sep 2022 13:32:01 +0000

The 4th edition of the Neuromuscular Translational School organized by EURO-NMD and TREAT-NMD will take place in autumn this year from November 21-25 in Leiden University Medical Center, in the Netherlands.

The Translational School focuses on therapy development from bench to bedside with a focus on neuromuscular disorders. It contains lectures about the current state of the art of acquired and genetic neuromuscular diseases, the different steps of drug development and the tools needed for this (outcome measures, biomarkers etc). It also stresses how patients should play a role in each of these steps and teaches how to communicate research to patients and the general public during interactive workshop sessions.

Find more information about registration, programme and committee here.

ERN eUROGEN webinar: Proximal Hypospadias: Challenges in Surgical Management

Loranne Charrier — Fri, 02 Sep 2022 14:02:21 +0000

ERN eUROGEN is happy to announce their upcoming webinar, titled “Proximal Hypospadias: Challenges in Surgical Management”.

Surgical management of proximal hypospadias is associated with major challenges regarding the establishment of a clear and effective strategy in order to optimize the functional and cosmetic outcome, reduce morbidity due to repeat interventions and minimize postoperative complications.

This webinar will take place on Wednesday 14 September 2022 at 18:00 CET, and will be presented by Prof Dr Josef Oswald and Dr Bernhard Haid from the Department of Pediatric Urology, Ordensklinikum Linz (AT). It aims to provide an overview of the current state of the art in this field. It is aimed at both healthcare professionals and patients.

Register here.

ERN Research Training Workshops funding opportunity now open for applications

Loranne Charrier — Thu, 01 Sep 2022 14:09:10 +0000

The ERN Research Training Workshops funding opportunity is now open for applications until October 1st. 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 topics, 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.

Application, organiser’s profile, and more: https://www.ejprarediseases.org/ern-research-training-workshop/