A newborn, Jorie, was diagnosed with DeSanto-Shinawi syndrome, a rare, incurable genetic disorder causing neurodevelopmental and physical challenges, with limited treatment options.
COVID Is Beginning to Surge Globally. Here's What We Know
SARS-CoV-2 infections are rising while testing, surveillance, genomic monitoring, and reporting have declined, causing undercounting and weaker preparedness for variant-driven responses.
Here's why genomic sequencing should be a standard of care
Genomic sequencing must become standard of care to accelerate diagnosis and treatment access for pediatric rare disease patients, shortening diagnostic odysseys and saving lives.