Registration is open until 14 January 2024. Registration will remain open for the reserve list only until 4 February 2024.

Through the presentation of sample use cases that have long eluded diagnosis, the course will provide participants with with useful tools, instruments and knowledge on novel strategies to foster solutions of undiagnosed rare diseases cases. Moreover, the course will facilitate networking among professionals involved in undiagnosed rare conditions.

The course is open to the international research community, to clinicians and to medical specialists who have experience and concrete interest in the diagnosis and research on rare diseases.

To ensure active participation and exchange with teaching staff and participants, a maximum of 30 attendees will be admitted.

More information and registration here

During this period, expert mentors will be actively present on the platform to answer the participants’ questions and to encourage and support discussions among the learners. This is beneficial for the learners since they can interact among them but also with the MOOC developers and scientists expert in the many fields covered by the MOOC, such as genetics, medicine, and bioinformatics.

To learn more about the MOOC, click here.

The ICD is developed and updated by the WHO; it is the global standard for recording health information and causes of death. The main goal of the webinar will be to learn more about how the rare disease community can benefit from the ICD and how it can use this critical global resource. 

Registration is not mandatory; the webinar can be attended using a Facebook or Zoom link. The webinar will not be registered.

The 2-day workshop will take place on November 17th and 18th 2022, face to face in Nijmegen (Netherlands). Costs for travel and accommodation might be available for participants from ERNs and EJP RD beneficiaries.

The “Bring Your Own Omics Data” (BYOOD) Workshop aims to help with optimising and integrating your omics data, initiate network analysis, and continue collaborations with the data analysis team. 

In order to prepare the workshop and adapt it to your needs, please complete the pre-registration form by September, 2nd 2022 that you can find here.

The questionnaire-based Smart Guidance tool is built on the Data Stewardship Wizard; it will guide users (e.g., data stewards) through the process of making their registry more FAIR. It covers various aspects like the composition of the FAIRification team, best practices for data representation, and giving access to your data.

The tool is accessible via: https://smartguidance-rd.ds-wizard.org/ (signing up is mandatory)

More information here.

The article summarizes IRDiRC’s vision and goals and highlights its achievements and prospects after its first decade (2011–2021).

The commentary has been authored by Lucia Monaco (Consortium Assembly Chair 2018–2021) along with Galliano Zanello, Gareth Baynam, Anneliene H. Jonker, Daria Julkowska, Adam L. Hartman, Daniel O’Connor, Chiuhui Mary Wang, Durhane Wong-Rieger, and David A. Pearce.

The supplementary information included with the commentary provides a visual summary of IRDiRC’s vision and goals, its international reach, the organization of its committees, Working Groups, and Task Forces, an overview of communication activities, and rare disease metrics.

The full article is available here.

The supplementary information can be downloaded from here.

The RDNN Board of Trustees and Management is delighted to announce the recent registration of RDNN as a registered UK charity. This is an important milestone as they strive forward on their mission to provide a network of specialist nurse support for every person with a rare disease.

RDNN has also shared the news that Michelle Conway has been appointed as their new Interim CEO. She will replace Helena Baker, who has recently stepped down.

RDNN will shortly be announcing how to help them with fund-raising and growing their network and capabilities.

The press release is fully available for reading here.

About RDNN:

RDNN was founded in 2016, when a small number of people came together on the invitation of Kay Parkinson. Ms. Parkinson’s vision was to set up an organisation to provide specialist nursing support for all those affected by a rare disease in the UK.

To learn more about the RDNN, please visit https://www.rdnn.org/contact-us

The objective of this letter was to reiterate that this is a request from the wider community. 58 organisations – including the European National Alliances – signed the letter, representing learned societies, ERN coordinating centres, health and research groups and initiatives, and industry umbrella groups. 

More information, as well as the letter and the list of signatories, is available here.

Tecvayli was supported through EMA’s PRIority MEdicines (PRIME) scheme, which provides early and enhanced scientific and regulatory support to medicines that have a particular potential to address patients’ unmet medical needs. EMA’s human medicines committee (CHMP) reviewed the application for marketing authorisation under an accelerated timetable to enable faster patient access to this medicine.

The opinion will now be sent to the European Commission for the adoption of a decision on an EU-wide marketing authorisation. Once a marketing authorisation has been granted, decisions about price and reimbursement will take place at the level of each Member State, taking into account the potential role or use of this medicine in the context of the national health system of that country.

For more details and related content, please click here.

This webinar broadcasted on July, 7^th discusses how the standard model for developing new medicines is often not profitable enough for pharmaceutical companies to produce therapeutics for the thousands of rare diseases known to exist. In the past, pharmaceuticals designed for common diseases have been repurposed for patients with rare diseases. However, that is all changing: new drug design methodologies allow us to contemplate designer medicines for very small groups of patients or even individuals.

More information and webinar available here.