A researcher at the Greenwood Genetic Center has landed a $1.4 million NIH grant to dig deeper into how metabolism and glycosylation — the process of adding sugar chains to proteins — go wrong in rare genetic diseases. Dr. Heather Flanagan-Steet will use zebrafish models to study congenital disorders of glycosylation (CDG), a group of nearly 200 inherited conditions with limited treatment options, hoping to uncover shared disease pathways and new therapeutic targets.
Heather Flanagan-Steet, PhD, Associate Director of Research at the Greenwood Genetic Center (GGC), has been awarded a $1.4 million, five-year MIRA R35 grant from the NIH's National Institute of General Medical Sciences. The funding will support her lab's work on how cellular metabolism and glycosylation — the biological process of attaching sugar chains to proteins and lipids — interact during normal development and break down in disease.
Her team focuses on congenital disorders of glycosylation (CDG), a group of rare inherited diseases caused by gene mutations that disrupt glycosylation. Using zebrafish as a model system, the researchers will explore how disruptions in the building blocks needed for glycosylation affect cells, tissues, and development — with a particular focus on PMM2-CDG, the most common form of the disorder.
By the Numbers:
Why it matters: CDG disorders remain poorly understood and largely untreatable. By studying multiple forms of CDG within the same model system, Dr. Flanagan-Steet's team hopes to identify common biological pathways — a strategy that could accelerate the development of therapies for patients with these rare, life-altering conditions.
