Orphanet Journal of Rare Diseases

Rare Disease Day

Since 2008, the last day of February has been dedicated to raising awareness about rare diseases. This global campaign is a precious opportunity for everyone to contribute to raising attention to 300 million rare disease patients and support initiatives around the world aiming to improve their lives. To mark this day, we will also present our annual Rare Disease Day content, featuring our newly published blog posts on this topic.

Student Voice Winner 2022: Diagnosing Rare Diseases and Mental Well-being: A Family’s Story

The 2022 winning essay of the Beacon and Medics4RareDiseases’ Student Voice Competition presents the stories of two sisters whose diagnostic journeys diverged then converged, reflecting on the impact of these experiences on mental well-being and what we can learn going forward. The author of this insightful essay is Zheqing Zhang, currently third-year medical student at the University of Oxford. We are proud to publish Zheqing’s article in Orphanet Journal of Rare Diseases (coming soon). Read her blog post here. 

Rare Disease Day blog- The ‘diagnostic odyssey’ – a unique and unpredictable journey towards hope

Chloe Yallop, a final year Genetics student at The University of Manchester, is one of the finalists of the 2022 Beacon and Medics4RareDiseases’ Student Voice Competition. In her blog post, Chloe compares diagnostic journeys of two mothers, of daughters affected by a rare disease, with a focus on the Genetic Alliance’s good diagnosis requirements, and the effects of these experiences on mental health. Read this insightful post here.

Rare Disease Day blog- One in a Million Disease with a Million Dollar cure

Fiza Javed, 3rd year medical student at Queen’s University, Canada and one of the finalists of the Beacon and Medics4RareDiseases’ Student Voice Competition, writes about Familial chylomicronemia syndrome, focusing on the Limited Access to Treatment and patient experiences “oceans apart”.   Read here this interesting blog post.

Rare Disease Day blog- Behçet's Disease: Diverse Manifestations in Both Brain and Body

Another finalist of the Beacon and Medics4RareDiseases’ Student Voice Competition is Olivia Noone, current healthcare worker and a Bachelor of Science student in Nursing (BSN) degree through the University of Victoria in Canada. In her blog post, Olivia tells us about the reality of living with Behçet's Disease through two patient stories.

Featured series: Innovative Methodologies for Rare Diseases Clinical Trials

Within the EJP RD (European Joint Programme on Rare Diseases), Work Package (WP) 20, "Accelerating the validation, use and development of innovative methodologies tailored for clinical trials in RDs", recognizes and addresses methodological challenges in clinical trials for rare diseases. These challenges include gaps in knowledge of best practices and innovative methodologies. Several actions have been implemented to overcome these gaps. Find out more about the scope of the series here.

Featured series: Diagnosis of rare diseases – strategies and structures

We are pleased to announce a new thematic series, guest edited by Holm Graeßner (University Hospital Tübingen, Germany). This new series will explore the strategies and solutions which have been developed, tested, validated and/or deployed, in order to improve diagnosis of rare disease patients. You can find more information about the scope of the series here.

Featured series: Medical technologies for rare diseases

We are pleased to announce a new thematic series, guest edited by Anneliene Jonker (University of Twente, The Netherlands) and Marc Dooms (University Hospitals Leuven, Belgium).

Orphan devices constitute a very diverse group of products, reflecting the broad field of rare disease. Many orphan devices provide essential functions for patients with rare diseases, their carers, and the healthcare professionals using them. Nevertheless, there are very few medical devices that are specifically developed for rare diseases, while many patients and carers express a substantial unmet need for new medical devices for their conditions. This new series will explore the questions which need to be answered, in order to raise the profile of this field, helping current and future rare disease patients worldwide. Find out more about the scope here.

Featured series: Undiagnosed rare diseases

Our new thematic series, guest edited by David Adams, delves into the challenges and opportunities which exist for patients living with undiagnosed rare diseases. We are looking to publish material which speaks to the importance of a diagnosis, of utilizing individual approaches in treating patients, of functional studies, and the best ways to share information. For more information about the series (including submission info), please click here.

PNDS Recommendations

We are proud to present the first of a series of recommendations from the PNDS on rare Autoimmune and Autoinflammatory Disease. This first set is about the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides). Read more here!