Familial Adult Myoclonic Epilepsy (FAME) is a rare genetic condition, characterized by the occurrence of cortical tremor, myoclonus, and generalized tonic-clonic seizures inherited in an autosomal dominant fashion. A funded networking event “1st Workshop on Familial Adult Myoclonic Epilepsy (FAME)” is being organised in Naples, Italy on May 27th-28th. This event has received funding support…
A funded networking event “The AKU Scientific Conference” is being organised. This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the 1st round of funding in March 2020. The meeting will again be held in Brussels, Belgium, at the Vrije Universiteit Brussel (VUB) on Saturday 14th and Sunday…
ERICA aims to promote collaborative inter- ERNs research projects. It is therefore crucial to have a centralised location to announce any new project and search for collaborators. A specific web page has been created for this purpose on the ERICA website Research Wall (Please note that the current page only contains examples) It provides basic information about the…
RDI is partnering with the EURORDIS Rare Barometer Survey project to launch the Global Survey on the Journey to Diagnosis for Persons Living with a Rare Disease. This survey aims to identify factors that influence the process of obtaining a diagnosis and obstacles along the journey. This is a global survey, available in 26 languages.…
The GA4GH Data Access Committee Review Standards subgroup has put together a brief survey on implementation factors when using software or other automated decision tools to support Data Access Committee review. The survey should take no longer than twenty minutes. Please complete the survey by 31 May, 2022. Start Survey Additional Information This study is part of a…
A funded networking event “European Forum on Visceral Myopathy 2022” is being organised in Camogli, Italy. This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity. The in-person event will take place over three days from April 27th – 29th. Special interest will be devoted to clinical diagnosis and patient management, genetics and onset molecular…
The third run of the MOOC (Massive Open Online Course) “Diagnosing Rare Diseases: from the Clinic to Research and back” co-developed by the European Joint Programme on Rare Diseases, ERN Ithaca, ERN Genturis and the Foundation for Rare Diseases will start on April 18th. Registrations are free and open at this link. We specifically encourage medical and biomedical science students…
An EJP RD funded networking event on the rare neurological disease caused by anti-IgLON5 antibodies, discovered in 2014 by researchers from the Hospital Clínic-IDIBAPS is being organised in the context of the Networking Support Scheme (NSS) funding opportunity. The in person meeting will take place over two days on February 24th – 25th at the Esteve Auditorium of the Esther Koplowitz…
The EURORDIS Photo Award is an opportunity to visually express what it means to live with a rare disease and to share your story with the rare disease community and beyond. The contest is open to all nationalities, ages, and diseases. Every year, hundreds of people from all around the world submit their photos, each…
We are glad to pre-announce the Joint Transnational Call 2022, a funding opportunity for research projects on the development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases. The aim of the funding opportunity is to enable scientists in different countries to build an effective collaboration on a…