Rare Disease Day 2023

Since its creation in 2008, Rare Disease Day has played an important part in building a multi-disease, global and diverse community that is united in purpose. There are 300 million people in the world with rare diseases. Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering the same disease. 

To help create awareness and mark Rare Diseases Day 2023, Elsevier presents a special collection of 58 journal articles and book chapters dedicated to rare diseases.

For Rare Disease Day 2023, RELX's Global Head of Corporate Responsibility, Márcia Balisciano, speaks to Shiv Gaglani, CEO & Co-Founder of Osmosis.
Screenshot from the introduction video for The Year of the Zebra
Elsevier Health is launching an ambitious initiative called “The Year of the Zebra” to educate millions of current and future healthcare professionals, caregivers, researchers, patients, family members, and the general public about rare disorders.

Rare, Available online 23 February 2023, In Press, Journal Pre-proof

On Rare Disease day, Elsevier has launched a new scientific journal called Rare. Open research in rare diseases. Elsevier dedicates a peer-reviewed publication specifically to these lesser known or unknown disorders, with the aim of having a clinical impact on the lives of patients and their families.

Press Release, February 28th, 2023

"Year of the Zebra" will highlight one rare disease each week in 2023 on world's most watched healthcare video education channel, 'Osmosis from Elsevier,' to educate healthcare professionals and students and accelerate rare disease diagnosis and research

Radiology Case Reports, Volume 17, December 2022

Behcet's disease is a systemic vasculitis that can manifest as an intracardiac thrombus, which is rare but a serious complication. 

eClinicalMedicine, Volume 54, December 2022

This Article supports SDG 3 by characterizing unmet needs and experiences of caregivers of patients with Erdheim-Chester disease and other histiocytic neoplasms and identifies factors associated with finding benefit and meaning-making in providing care for patients with rare cancers.

Mitochondrion, Volume 67, November 2022

Based on current studies, the incidence of Ewing sarcoma (ES) varies significantly by race and ethnicity, with the disease being most common in patients of European ancestry. However, race/ethnicity has generally been self-reported rather than formally evaluated at a population level using DNA evidence. Additionally, mitochondrial dysfunction is a hallmark of ES, yet there have been no reported studies of mitochondrial genetics in ES. Thus, we evaluated both the mitochondrial and nuclear ancestries of 420 pediatric ES patients in the United States using whole-genome sequencing.
Infographic showing how sex bias and omission exists in Batten disease research

Biochimica et Biophysica Acta - Molecular Basis of Disease, Volume 1868, 1 November 2022

Batten Disease is a rare disease. This reviews highlights the existing sex bias and omissions in Batten Disease research.
Overview of brain [64Cu]-ATSM retention and mitochondrial abnormalities in cells from Huntington's disease carriers, at premanifest and manifest disease stages, and in presymptomatic YAC128 mice.

Redox biology, Volume 56, 1 October 2022

Deficits in mitochondrial function and redox deregulation have been attributed to Huntington's disease (HD). However, whether these changes occur in early stages of the disease and can be detected in vivo is still unclear. In this article, the authors analysed changes in mitochondrial function and production of reactive oxygen species (ROS) at early stages and with disease progression.

Redox Biology, Volume 56, October 2022

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1), the only 4q35 gene involved in mitochondrial function, is strongly expressed in FSHD skeletal muscle biopsies. However, its role in FSHD is unclear. In this study, we evaluated ANT1 overexpression effects in primary myoblasts from healthy controls and during Xenopus laevis organogenesis. We also compared ANT1 overexpression effects with the phenotype of FSHD muscle cells and biopsies.