Genomic Arrangements

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

Carvalho Lab, Dudley Lab, Uncategorized, Insights

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, Complex Genomic Structure, PNRI, Urea Cycle Disorders
Unlocking the Secrets of Complex Genomic Rearrangements in Disease

In a pair of recent studies, PNRI’s Carvalho Lab is making significant strides in unraveling the intricate relationship between our genes and their structure, shedding new light on the genetic underpinnings of specific diseases.

November 2, 2023

Uncategorized, Carvalho Lab

Rare Disease Research, Genomic Arrangements, Genomic Structure, Complex Genomic Structure, MECP2 gene, DUP-TRP/INV-DUP