NIH grant funds research linking metabolism and glycosylation in rare diseases

The Greenwood Genetic Center has received a $1.4 million, five-year National Institutes of Health grant to investigate how cellular metabolism and glycosylation interact during development and disease. The Maximizing Investigators’ Research Award, or MIRA, was awarded to Heather Flanagan-Steet, PhD, associate director of research at the South Carolina-based center, by the National Institute of General Medical Sciences. The award will support her broader research program rather than a single narrowly defined project, allowing the team to pursue promising directions as new findings emerge.

Flanagan-Steet’s research focuses on congenital disorders of glycosylation, or CDG, a group of rare inherited diseases caused by changes in genes involved in glycosylation. This process adds sugar chains to proteins and lipids and is essential to their normal function. When glycosylation is disrupted, the resulting conditions can produce a wide range of health problems, including secondary changes in how the body uses sugar metabolites. Nearly 200 inherited glycosylation disorders have been identified, but their biological mechanisms remain incompletely understood and treatment options are limited.

The award will support work examining how changes in the basic building blocks required for glycosylation affect cells and tissues, how those changes interfere with development, and how they contribute to disease. The researchers will also study the connection between altered metabolism and impaired glycosylation, two processes that may jointly shape normal development and disease onset. This approach is intended to identify shared biological pathways across several forms of CDG, including PMM2-CDG, the most common form of the disorder.

To investigate these questions, Flanagan-Steet and her team use zebrafish models in which they can examine the effects of changes in cellular metabolism and glycosylation. Their planned work includes studies of multiple forms of CDG within the same model system, enabling researchers to look for mechanisms common to several disorders. Because this is a grant announcement, the award does not yet establish new biological findings, clinical benefits or effective treatments; it provides support for the planned research and its evolving directions.

Greenwood Genetic Center President and CEO Steve Skinner said MIRA grants give investigators with established research records greater flexibility to follow important discoveries as their programs develop. “That flexibility is particularly valuable in rare disease research, where an unexpected finding can open an entirely new avenue of investigation,” Skinner said. Flanagan-Steet said the funding will allow her team to pursue broader questions about the relationship between metabolism and glycosylation and follow new discoveries as they arise. The five-year award is intended to strengthen understanding of rare diseases and, potentially, point toward new approaches for patients and families, although that goal remains an outcome the research will need to demonstrate.

Subject of Research: Research on metabolism and glycosylation in congenital disorders of glycosylation using zebrafish models

Article Title: Greenwood Genetic Center researcher receives $1.4 million NIH grant to study metabolism and glycosylation in rare genetic diseases

Article References: Greenwood Genetic Center researcher receives $1.4 million NIH grant to study metabolism and glycosylation in rare genetic diseases. Original publication (Bibliographic details unavailable.)

Image Credits: AI Generated

DOI: Not provided

Keywords: NIH grant, rare diseases, congenital disorders of glycosylation, metabolism, glycosylation, zebrafish models, PMM2-CDG, developmental biology, medical genetics, Greenwood, Genetic, Center