News

Training Course: Quality assurance, variant interpretation and data management in the NGS diagnostics era

EJP RD News, NewsPar Loranne Charrier 6 juillet 2022

As part of the training activities proposed by the EJP RD, a 3-day training course titled “Quality assurance, variant interpretation and data management in the NGS diagnostics era” is being organised by Universitätsklinikum Tübingen, in close collaboration with EJP-RD task partners, aimed the international research community: clinicians, medical specialist, laboratory scientists (EBMG-registered), junior laboratory scientists, clinical geneticists, policy…

ERN Workshop on Rhabdoid tumors in clinic and research: From basic biology to the patient bed

EJP RD News, NewsPar Loranne Charrier 6 juillet 2022

In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Rhabdoid tumors in clinic and research: From basic biology to the patient bed” aimed at discussing the current clinical standard of treatment in rhabdoid tumors, as well as the controversies in the rhabdoid tumors regimen is being organized by Dr. Pascal Johann of the Universitätsklinikum Augsburg. The in-person event will…

General Assembly of TEDDY Network

EJP RD News, NewsPar Ngangta Mbaidoum 6 juillet 2022

The General Assembly of TEDDY Network will be held online, within a hearing at the Council of Europe this July 7th from 9.30 to 14.00 CEST. TEDDY Network will present some activities (part of which were developed within EJPRD) to be considered as good practices promoting the empowerment of children and facilitating their participation in…

IRDiRC releases State of Play 2019-2021

NewsPar Loranne Charrier 5 juillet 2022

The International Rare Diseases Research Consortium (IRDiRC) is pleased to announce today the release of its Rare Diseases Research Initiatives State of Play 2019-2021 Report. This report is based on scientific articles and press releases published between 2019 and 2021; it seeks to inform stakeholders and the rare diseases community about the developments and observed…

Science Webinar series – Combating the fragmentation of data and disciplines: Innovation hubs to address rare diseases

NewsPar Loranne Charrier 1 juillet 2022

The recording of Science’s webinar on innovation hubs as a viable option to address rare diseases, that took place on May 26th, is now available to watch on their website. This webinar brings together key opinion leaders to discuss the current and future needs of patients, and how innovators, doctors, scientists, drugmakers, and policymakers can…

WORLD DUCHENNE AWARENESS DAY 2022: Duchenne and Women

NewsPar Loranne Charrier 28 juin 2022

The World Duchenne Awareness Day, taking place each year on September 7th, is the official campaign to raise awareness for people living with Duchenne & Becker muscular dystrophy. Each year, an educational theme is chosen; this year’s theme is Women and Duchenne. Through the creation of specific educational materials, the event will highlight all the…

ERN eUROGEN webinar: Williams-Beuron Syndrome: A Focus on Long-Term Patient Care

NewsPar Onakoy Tanguy 27 juin 2022

ERN eUROGEN, ERN ITHACA and ERN ERKNet are organising a webinar on July, 6th 2022, at 18:00 CEST. You can register here: https://register.gotowebinar.com/register/4452634388200656141 During this event, aimed at both healthcare professionals and patient organisations, all uro-nephrological and cardiological aspects of Williams-Beuren Syndrome will be discussed, including clinical scenarios.

ERN eUROGEN webinar: Summer ’22 Update

NewsPar Onakoy Tanguy 27 juin 2022

ERN eUROGEN is organising a webinar on June, 29th 2022, at 18:00 CEST. This webinar will provide an overview of their activities and an update on the network’s most recent developments. You can register here : https://register.gotowebinar.com/register/4850315649781014540 The event will cover the development of the ERN eUROGEN registry, new features of the clinical patient management system (CPMS) and the possibilities available within…

Questionnaire on health system resilience in the context of rare diseases

NewsPar Ngangta Mbaidoum 24 juin 2022

Gelareh Emami, a PhD student at the Department of Health Management at Scuola Superiore Sant’Anna, under the supervision of Prof. Giuseppe Turchetti and Dr. Valentina Lorenzoni, is investigating health system resilience in the context of rare diseases. She requests healthcare professionals (Medical doctors, Nurses, Physiotherapists, etc.) involved in the treatment of rare diseases to complete a questionnaire. The results…

Networking Support Scheme (NSS) event: Taking congenital portosystemic shunts (CPSS) to the next level

Networking events funded by EJP RD, NewsPar Ngangta Mbaidoum 20 juin 2022

A funded networking event « Taking congenital portosystemic shunts (CPSS) to the next level – 2nd meeting of experts » is being organised to improve patient care by addressing controversies in CPSS management focusing on liver nodules, portopulmonary hypertension (POPH), endocrine abnormalities, and the challenges of recommending shunt closure. This event has received funding support from the…

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