Rare Disease Day 2023

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.

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

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.

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.