EJP RD HIGHLIGHTS
Rare disease perspectives in Central – Eastern Europe Conference. 16 SEPTEMBER 2019, Gdansk, poland
The main aims of this conference – to discuss challenges and opportunities of rare disease research in CEE countries and areas of involvement within EJP RD for multiple stakeholders (incl. researchers, clinicians, authorities, patient organizations). Deadline for registration is 9 September!
eHealth Forum. Digital transformation and globalization in healthcare. 19 – 20 September 2019. Sopot, Poland.
The aim of the Conference is to present and discuss the key challenges and key actions in digital transformation in healthcare, including the following areas: (a) key trends and factors of digital transformation and globalization in healthcare, (b) improvement of the digital maturity of the health system, (c) interoperability between multiple stakeholders along the complex healthcare system, (d) key actions in e-health in Poland: – implementation of e-health strategy, – introduction of e-prescription, e-referral, patient portal, – privacy and protection of medical data, – building an information system for patients, (e) new initiatives in the field of e-health: – m-health and telemedicine, – analytical and expert systems (big data), (f) digital health as a new business area.
RE(ACT) Congress and IRDiRC Conference. 11-14 MARCH 2020, berlin, Germany
This joint event will continue the RE(ACT) Congress series (6th edition) and IRDiRC Conference series (4th edition). It aims to bring together scientific leaders and experts and young scientists from a variety of breakthrough scientific fields to present cutting-edge research, exchange ideas and discuss policies related to rare diseases research. Patients and patient organizations, who are committed to research, will also be in attendance to share their experiences and perspectives. Registration is open!
Workshop and Hackathon: Molecular pathways for rare disease (FAIR) data analysis. 26 – 29 November 2019, Maastricht, The Netherlands
The focus of this workshop is: 1. Pathway creation and curation – especially rare disease and adverse outcome pathways inspired by needs of ERNs and tox community (day 1-2) 2. FAIR data preparation (prep for pathway and network analysis) – define needs of data analysis and do first steps towards solving (day 2-3). The workshop takes place day 1-3, after this there will be a hackathon in which we will start together solving the identified problems and test different approaches. Registration is open!
Latest news
The new IRDiRC’s report “State of Play of Research in the Field of Rare Diseases: 2015-2018” is out!
The International Rare Diseases Research Consortium (IRDiRC) releases the current state of play of research in the field of rare diseases . The IRDiRC’s report “State of Play of Research in the Field of Rare Diseases: 2015-2018” is a compilation of information published in scientific journals and press releases over the period of September 2015 Read more about The new IRDiRC’s report “State of Play of Research in the Field of Rare Diseases: 2015-2018” is out![…]
New IRDIRC Recognized Resource: “The Model Organism Aggregated Resources for Rare Variant ExpLoration (MARRVEL)”
MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration), a new IRDiRC recognized resource, is available online! It is a search engine that collects data from a number of human genomics and model organism genetics databases and displays it in a rapid user-friendly format. <<MARRVEL is a publicly available website that integrates information from six Read more about New IRDIRC Recognized Resource: “The Model Organism Aggregated Resources for Rare Variant ExpLoration (MARRVEL)”[…]
ERN webinar: “New therapeutic targets for the treatment of pancreatic neuroendocrine tumours”
Please join for the next ENDO-ERN webinar on “New therapeutic targets for the treatment of pancreatic neuroendocrine tumours” on Thursday October 10th at 16:00 – 17:00 CET (UK time 15:00 – 16:00). The webinar will be held by Jo Blair, Attila Patocs & Rajesh Thakker . For registration click here.
Global public meeting on draft ICH guideline on clinical trials
The global guidance for the conduct of clinical trials is currently undergoing a major revision. As part of the worldwide consultation process, the International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) is organising a public meeting to review its draft E8 (R1) Guideline ‘General Considerations for Clinical Trials’. EMA is encouraging its stakeholders to register Read more about Global public meeting on draft ICH guideline on clinical trials[…]
New Elixir paper published in Nature: “Leveraging European infrastructures to access 1 million human genomes by 2022”
ELIXIR team has recently published in Nature Reviews Genetics. The article explores how European research infrastructures can be leveraged to facilitate transnational access to at least one million human genomes. This is building on the recently declared ‘European ‘1+ Million Genomes’ initiative’ signed by 21 European countries, which is targeted for completion by 2022. In Read more about New Elixir paper published in Nature: “Leveraging European infrastructures to access 1 million human genomes by 2022”[…]
ERN webinar: “Diagnostic Imaging in NMD: the basics”
EURO-NMD host educational webinars that occur on a monthly basis. The webinars are presented with the aim of increasing each viewer’s knowledge of different specialist areas related to the neuromuscular field. Their next webinar will be taking place on Thursday 24th October from 13:00 to 14:00 GMT / 14:00-15:00 CET on the subject of “Diagnostic Imaging Read more about ERN webinar: “Diagnostic Imaging in NMD: the basics”[…]
2019 call for membership to the existing European Reference Networks (ERNs) will open soon
The European Commission will launch in the coming weeks the first call for new members to join existing 24 ERNs, following the adoption of the Commission Implementing Decision (EU) 2019/1269 of 26 July 2019 amending Decision 2014/287/EU. The concrete date of the launch of the call will be announced soon. General information on ERNs and call for Read more about 2019 call for membership to the existing European Reference Networks (ERNs) will open soon[…]
Public Health – Union Register of medicinal products
Newly adopted Marketing Authorisation Decisions (last six months) The Union Register lists all medicinal products for human and veterinary use as well as orphan medicinal products that have received a marketing authorisation by the @EU_Commission through the centralised procedure. Check out the full list here.
Report of the United Nations High Commissioner for Human Rights states the needs in rare diseases
The Economic, social and cultural rights new report of the UN highlights the status quo and future needs of persons living with rare diseases. “Rare diseases often attract stigma and discrimination, and many persons living with a rare disease find themselves excluded from participation in employment and from integrating fully and productively into society”.
New AKU treatment comes closer to commercialisation
Nitisinone is probably the biggest source of hope for alkaptonuria (AKU) patients right now. Research efforts under the DevelopAKUre project are bringing its commercialisation within reach. DevelopAKUre (Clinical Development of Nitisinone for Alkaptonuria), the project investigating nitisinone supported by the AKU Society and coordinated by the Royal Liverpool and Broadgreen University, is close to completing its Read more about New AKU treatment comes closer to commercialisation[…]