This document provides a comprehensive summary of evidence on the current situation of
rare diseases (RDs) globally and regionally, including conditions, practices, policies, and …

Parents caring for children with rare diseases fear the long-term progression of the child's
disease. The current study aims to systematically investigate the quality of life (QoL) in …

Background: Despite international initiatives on collaboration within the field of rare
diseases, patient access to orphan medicinal products (OMPs) and healthcare services …

The genomics revolution over the past three decades has led to great strides in rare disease
(RD) research, which presents a major shift in global policy landscape. While RDs are …

Objectives Three hundred million people living with rare diseases worldwide are
disproportionately deprived of in-time diagnosis and treatment compared with other patients …

Background: Decision-makers have implemented a variety of value assessment frameworks
(VAFs) for orphan drugs in European jurisdictions, which has contributed to variations in …

Rare diseases are increasingly recognized as a global public health priority. Governments
worldwide currently provide important incentives to stimulate the discovery and development …

Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental
disorder. Despite the considerable impact on individuals and caregivers, no disease …

A considerable fraction of population in the world suffers from rare diseases. Clustered
Regularly Interspaced Short Palindromic Repeats (CRISPR) and its related Cas proteins …

Background Many people living and working with rare diseases describe consistent
difficulties accessing appropriate information and support. In this study an evaluation of the …