The paper is available here.

This open-access publication, reflecting the collaborative efforts of the IRDiRC Drug Repurposing Task Force and the IRDiRC Therapies Scientific Committee over the past 1.5 years, is a significant milestone in advancing drug repurposing for rare diseases.

The paper delves into key insights gained from analyzing cases of drug repurposing in small population conditions. Lessons learned include the importance of sharing clinical observations, early engagement with regulatory scientific advice, and fostering public-private collaboration.

More information on the Chrysalis Task Force here: https://irdirc.org/chrysalis-project/

« It was a real pleasure working with such a talented IRDiRC Task Force. We also truly appreciate the critical input provided by the survey and interview respondents. All of them provided specific yet nuanced responses that were framed in an important general context. Their responses allowed the Task Force to compose and frame what I consider to be an extremely informative report. » says Adam L. Hartman, MD, Co-chair of the Chrysalis Task Force and Program Director at the National Institute of Neurological Disorders and Stroke (NINDS) part of U.S. National Institutes of Health (NIH)

IRDiRC’s  Diagnostic Scientific Committee (DSC) plays a critical role in identifying and addressing current and future bottlenecks to rare disease gene discovery and diagnosis.

As we work towards improving rare disease diagnosis globally, the DSC is currently seeking to expand its membership by welcoming a rare disease diagnostic expert from Africa or Latin America and a rare disease patient/patient advocate from anywhere in the world. We welcome individuals who have a strong interest and involvement in activities or initiatives to improve rare disease diagnosis and are passionate about making a positive impact in the field. We are looking for individuals who can commit to quarterly teleconferences, a yearly face-to-face meeting, and regular committee activities, including email correspondence.  

If you meet these criteria, we encourage you to apply and join our global community of experts and individuals who share the same vision and mission. Please note that this is a volunteer membership. To apply, please send us your resume, bio-sketch, and letter of motivation to scisec-irdirc@ejprarediseases.org  before 09 June 2023. 

The International Rare Diseases Research Consortium (IRDiRC) is dedicated to achieving its goal for 2027 of “enabling all people with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention”. We believe in bringing the rare diseases community together, sharing knowledge and experience, and working collaboratively across borders to advance rare disease research and avoid duplication of efforts. Our organization comprises four Scientific Committees: Diagnostics, Therapies, Interdisciplinary, and Regulatory aspects of rare disease research.  

ISC has one opening for a new member with experience in rare diseases data sharing, ontologies, natural history, biobanking and registries.

Interested candidates are invited to send their resume, biosketch and letter of motivation to  scisec-irdirc@ejprarediseases.org before the 2nd of April, 2023.

More information about the Interdisciplinary Scientific Committee (ISC): https://irdirc.org/isc/

Check out the newly approved Task Forces:

1. Funding Models to Support the Spectrum of Rare Disease Research and Development

The overall objective of this Task Force is to identify how different types of funders make decisions about when to fund at a given stage in a treatment’s development and the factors that contribute to this process.  

More details on the candidates profiles: here.

2. Framework to assess impacts associated with diagnosis, treatment, support, and community integration

The overall objective of this Task Force is to develop, operationalize, and test a comprehensive framework of holistic, multidimensional, and evolving life-long experiences of patients and families living with a rare disease. 

More details on the candidates profiles: here.

3. Functional Analysis

The overall objective of this Task Force is to create a framework for the robust and effective ecosystem of functional analyses in rare diseases. 

More details on the candidates profiles: here.

4. Preparing for genetic N-of-1 treatments of patients with ultra-rare mutations 

The overall objective of this Task Force is to connect different N-of-1+ efforts to reduce duplication, achieve global consensus and create a roadmap towards development and implementation of N-of-1+ treatment.

More details on the candidates profiles: here.

How to Apply?  

If you are interested in taking part in any of these activities please send a CV, biosketch, and letter of motivation (one paragraph each) to the IRDiRC Scientific Secretariat (scisec-irdirc@ejprarediseases.org) with the email title “TF Member Application-IRDiRC-[TF Name]” before 20 February 2023. 

As such, the TSC has three openings for new members, specifically encouraging participants from the following regions: Africa, Asia, Australasia or South America.

Applications are open until 16th of December 2022.

More information here: https://irdirc.org/join-irdircs-therapies-scientific-committee/

The International Rare Diseases Research Consortium (IRDiRC) and the European Joint Programme on Rare Diseases (EJP RD) are jointly organizing a two-day conference on clinical research networks (CRNs) for rare diseases, which will take place on December 1 and 2. The objective of this conference is to gather experts from different continents to increase mutual knowledge on CRNs structure, activities and identify pathways to stimulate collaboration and interoperability of these networks.  

It is not possible anymore to register for in-person participation. To register for online participation, please complete this registration form. 

Find more information here.

The report, to which IRDiRC members Takeya Adachi, Gareth Baynam and Hugh Dawkins contribute as an expert panel, takes a look at the challenges patients with rare disease face in accessing treatments. It also considers where healthcare and health systems have made progress in helping people living with rare diseases, as well as identifying ongoing areas that need improvement.

The full report is available for reading here.

The Orphanet Journal of Rare Diseases has recently opened recruitement for authors to address questions such as the following:

• What are medical technologies that are currently being developed for rare disease patients?
• What are the best ways to support medical device development for rare diseases?
• What are the best practice examples of patient engagement in medical technology for rare diseases development?
• What are the best approaches to develop novel technologies for rare diseases?
• What are the main barriers and challenges?
• etc.

The articles will undergo the journal’s standard peer-review process.

Find more information about the Orphanet Journal of Rare Diseases‘ upcoming issue here. Submission guidelines can be found here.

To submit an article to the series, please use the Orphanet Journal of Rare Diseases‘s submission system.

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.