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 …

Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …

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 …

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

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 …

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

We now live in a time of unprecedented opportunities to turn scientific discoveries into better
treatments for the estimated 30 million people in the US living with rare diseases. Despite …

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 introduction of exome sequencing in the clinic has sparked tremendous optimism for the
future of rare disease diagnosis, and there is exciting opportunity to further leverage these …

Rare diseases by definition are conditions that affect small numbers of people. The
prevalence threshold that designates a disease as rare varies in different countries …