Author: ICORD

Rare Disease Day® takes place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. Each year, NCATS and the NIH Clinical Center sponsor Rare Disease Day at NIH as part of this global observance. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments.

The goals of Rare Disease Day at NIH are to:

– Demonstrate the NIH commitment to helping people with rare diseases through research.
– Highlight NIH-supported rare diseases research and the development of diagnostics and treatments.
– Initiate a mutually beneficial dialogue among the rare diseases community.
– Exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts.
– Shine a spotlight on stories told by people living with a rare disease, their families and their communities.

For more information:
https://ncats.nih.gov/news/events/rdd

The International Course “Training on strategies to foster solutions of undiagnosed rare disease cases” is a part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD). EJP RD is a European Commission funded project (Grant Agreement No 825575, 2019 – 2023) with the goal to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.

The course is endorsed by ICORD and will take place on 11-13 April 2022 online.

 The Course is made up of 3 days of training organized by Istituto Superiore di Sanità (ISS) in close collaboration with EJP RD Task partners [EKUT, LBG (LBI-RUD), ACU/ACURARE, ISCIII, INSERM (AMU), FTELE, UMCG, IMAGINE, CNAG-CRG, IPCZD (CMHI).

The course is endorsed by the International Conference of Rare Diseases and Orphan Drugs, [ICORD] and is also endorsed and taught by selected members of the Undiagnosed Diseases Network International [UDNI] Board of Directors.

Several initiatives have been undertaken at national and international level for undiagnosed rare diseases aimed at identifying clinical pathways and innovative methods to reach diagnosis. This course will illustrate methodologies and tools already used internationally and will provide participants with useful examples for the resolution of undiagnosed cases.

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

More information on the program and the registration you can find here

ICORD supports the UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families” and devotes efforts to improve the welfare of patients with rare diseases and their families world-wide through better knowledge, research, care, information, education and awareness.

Please click here to see the draft resolution.

The 3rd Training Course “Quality assurance, variant interpretation and data management in the NGS diagnostics era”, which will be held on 27th – 29th October 2021, is organized by the National Centre for Rare Diseases – Istituto Superiore di Sanita, in the framework of EJP-RD and with the endorsement of ICORD (and others).

The programme of the course can be found here 

More information on the course and the registration form on the EJP – RD website 

“International Summer School on Rare Disease Registries and FAIRification of Data” (Online Edition, September 27 – October 1, 2021) organized in the frameework of the EJP-RD by Istituto Superiore di Sanità (Rome, Italy) and endorsed by ICORD.

Donwload Programme of the Course

The Board of ICORD and the General Assembly have approved the first Honorary Members of the society.

During the General Assembly held on 28th April 2021 the following to Honorary Members were confirmed:

• John Forman, New Zealand
• Dr. Jan-Inge Henter, Sweden

As written in the By-Laws, individuals who have excelled in the field of rare diseases and who are retired from their usual activity, as well as distinguished individuals who, in the view of the Board, could be valuable members for the activities of the Association.

The Board of ICORD congratulates Mr. Forman and Dr. Henter.

ICORD joins with more than 300 million people, their families, and caregivers worldwide in the celebration of Rare Disease Day. The members of ICORD share the patient-centered approaches adopted by the rare diseases community to provide useful information about rare diseases, timely and correct diagnosis of more than 7000 rare diseases, and equal global access to innovative drugs, biological products, and medical devices for patients in all countries. These products and services, when made available to all regardless of socio-economic status, will lead to an improvement in care and the quality of life with full personal integration into all aspects of society to maximize the human potential of individuals throughout their lifespan.

We are forever grateful for the dedicated efforts, personnel, and financial resources provided by patients, families, patient advocacy groups, health care providers, academic research investigators, research and regulatory agency scientists, the biopharmaceutical, medical devices, and diagnostics industry, national government policy officials, and elected representatives who have contributed to approval of more than 925 uses of orphan products worldwide.  The path to an approved orphan product is extremely difficult. The continued work of the rare diseases community to meet the needs of patients with rare diseases is highlighted particularly on Rare Disease Day on February 28 in many countries. ICORD continues to foster and inspire global collaboration among all rare disease stakeholders.