OTC Deficiency

PNRI Discoveries Showcased at Global Rare Disease Conferences

PNRI scientists are at the forefront of groundbreaking rare disease research. This spring, they are taking their breakthroughs global, sharing their labs’ latest findings with experts and advocates worldwide.

March 25, 2024

Insights, Carvalho Lab, Dudley Lab, Uncategorized

Kleefstra Syndrome, ASL deficiency, Rare Disease Research, rare disease, PNRI, OTC Deficiency, conferences, MECP2, UCD
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

Genomic Arrangements, Genomic Structure, 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
NUCDF Highlights Dudley Lab Breakthrough in Urea Cycle Disorder Research

The National Urea Cycle Disorder Foundation (NUCDF) showcased PNRI’s Dudley Lab for its groundbreaking genetic screening tool.

January 30, 2024

Uncategorized, Insights, Dudley Lab

PNRI, OTC Deficiency, Urea Cycle Disorders, Yeast Biology