Rare genetic diseases pose significant challenges in diagnosis and treatment due to their
complexity and rarity. Next-generation sequencing (NGS) is a revolutionary genomic …

Background and aim: Rare disorders, often referred to as orphan diseases, pose significant
challenges in terms of diagnosis and treatment due to their limited prevalence and …

Rare Genetic Disorders (RGDs) are defined as disorders that affect less than 1 in 2000
people, and collectively affect more than 300 million people worldwide [1]. The Online …

In the last three decades, the development and implementation of genomic approaches and
technologies have transformed the study of human genetics, disease, and health …

Sequencing patients' genomes is necessary for understanding the genetic basis of diseases
and facilitating their diagnosis. New-generation sequencing tools revolutionized human …

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches,
a new volume in the Translational and Applied Genomics series, offers readers a broad …

We are pleased to introduce Rare Diseases, an open access journal dedicated to publishing
high-quality research that addresses the many aspects related to rare diseases. Rare …

Rare genetic diseases are complex and heterogeneous. The diagnostic challenges of
undiagnosed rare genetic disorders are due to their diversity and limited knowledge of their …

Rare and undiagnosed diseases substantially decrease patient quality of life and have
increasingly become a heavy burden on healthcare systems. Because of the challenges in …

Rare genetic disorders are a group of diseases that are caused by changes in a person's
genes. These changes can be inherited from parents or occur spontaneously. Rare genetic …