structural variants

Rare Disease Day 2024 and the Frontier of Genetic Research

Groundbreaking research projects at PNRI are leveraging the latest discoveries in genetics and innovative DNA sequencing technology to uncover the roots of rare diseases and revolutionize how they are diagnosed.

February 26, 2024

Uncategorized, Insights, Carvalho Lab, Dudley Lab

Complex Genomic Structure, PNRI, Urea Cycle Disorders, OTC Deficiency, Aimee Dudley, Claudia Carvalho, Metabolic Disorders, structural variants, Rare Disease Research, MECP2 duplication syndrome, Robinow Syndrome, Rare Disease Day, rare disease, Genomic Arrangements, Genomic Structure