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

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

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 …

Timely diagnosis is one of the most serious challenges faced by people living with a rare
disease (PLWRD), and this study estimates that in Europe, the average total diagnosis time …

The challenges imposed by climate change and the limited nature of resources generate
paradigm shifts at the level of economic, social, and environmental policies and strategies …

This study examines the various ways that artificial intelligence (AI) is being used into the
field of cancer medicine, with an emphasis on innovative techniques and advances in …

People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact
that care systems are not sufficiently aligned with their needs and healthcare workforce …

Background Caring for a child with a chronic disease may be demanding and stressful.
When a child has a rare condition, the impact of care on parents is amplified due to the rarity …

Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

Antisense oligonucleotide (AON) therapies involve short strands of modified nucleotides that
target RNA in a sequence‐specific manner, inducing targeted protein knockdown or …