Interpreting the wealth of rare genetic variants discovered in population-scale sequencing
efforts and deciphering their associations with human health and disease present a critical …

Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity.
There is no disease-modifying treatment currently available. Therefore, standardized …

Rare genetic diseases collectively impact millions of individuals in the United States. These
patients and their families share many challenges including delayed diagnosis, lack of …

the past years, several advanced gene and cell therapies to target rare genetic diseases
have demonstrated long-lasting efficacy: essentially “curing” severe and previously …

Purpose Persistent inequities in genomic medicine and research contribute to health
disparities. This analysis uses a context-specific and equity-focused strategy to evaluate …

Abstract Background The United Nations recently made a call to address the challenges of
an estimated 300 million persons worldwide living with a rare disease through the collection …

Rare diseases are most often caused by inherited genetic disorders that, after translation,
will result in a protein with altered function. Decreased protein stability is the most frequent …

The preferred evidence of a large randomized controlled trial is difficult to adopt in
scenarios, such as rare conditions or clinical subgroups with high unmet needs, and …

Motivation Despite low prevalence, rare diseases affect 300 million people worldwide.
Research on pathogenesis and drug development lags due to limited commercial potential …

The promise of genomic medicine lies in the opportunity to improve health outcomes via a
personalized approach to management, grounded in genetic and genomic variation unique …