Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …

Modern health care faces several serious challenges, including an ageing population and
its inherent burden of chronic diseases, rising costs and marginal quality metrics. By …

Rare diseases collectively exact a high toll on society due to their sheer number and overall
prevalence. Their heterogeneity, diversity, and nature pose daunting clinical challenges for …

Rare diseases (RDs) are collectively common and affect 300 million people worldwide.
Accurate phenotyping is critical for informing diagnosis and treatment, but RD phenotypes …

Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect
therapeutic targets for rare diseases. In this study, we developed a high-throughput …

Background Childhood dementias are a group of rare and ultra-rare paediatric conditions
clinically characterised by enduring global decline in central nervous system function …

Gene therapy holds promise as a life-changing option for individuals with genetic variants
that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA) …

Scientific advancements, new US FDA approval pathways and limited competition have
contributed to rapid growth in the number of approved rare disease treatments in recent …

Abstract The National Center for Advancing Translational Sciences' virtual 2021 conference
on gene‐targeted therapies (GTTs) encouraged multidisciplinary dialogue on a wide range …

The cost and time needed to conduct whole‐genome sequencing (WGS) have decreased
significantly in the last 20 years. At the same time, the number of conditions with a known …