The grant will support Dr. Flanagan-Steet's research into understanding how metabolism and glycosylation work together during normal development and disease onset. The study aims to identify common biological pathways that contribute to rare diseases, with the ultimate goal of developing new treatments.
An international study found that variants in the IDUA gene, associated with mucopolysaccharidosis type I, can cause inherited retinal disease without broader health problems. The study highlights the importance of understanding how genetic variants affect the body, potentially leading to earlier recognition and treatment opportunities.
The Greenwood Genetic Center has secured $1.1 million in federal funding to develop innovative treatments for Alzheimer's disease using Mitochondria Organelle Transplantation (MOT). The therapy aims to restore cellular energy and slow disease progression by transplanting healthy mitochondria into diseased cells.
Scientists have identified a mechanism contributing to the tissue phenotypes of PMM2-CDG, a congenital disorder of glycosylation. Using a zebrafish model, researchers found that defects in N-cadherin processing lead to craniofacial and motility abnormalities.
Researchers at Greenwood Genetic Center have identified cholesterol accumulation as a key contributor to the symptoms of genetic movement disorders, including seizures and balance issues. The study provides new hope for treatments targeting cholesterol accumulation, such as the drug 2-hydroxypropyl-beta-cyclodextrin, which showed signi...
A research team at Greenwood Genetic Center successfully restored normal heart and valve development in an animal model for Mucolipidosis II using small molecules. The study used cathepsin protease inhibitors to normalize cardiac development in a zebrafish model with genetic mutations that disrupted growth factor signaling.
Researchers have confirmed that variants in the LMNB1 gene cause syndromic microcephaly by disrupting the nuclear envelope, leading to misshapen nuclei and impaired function. The study highlights a new genetic cause of congenital abnormalities and broadens the understanding of laminopathies.
EpiSign analyzes DNA methylation patterns to diagnose or resolve variants of uncertain significance in patients with genetic disorders and congenital anomalies. The test has identified unique epigenetic signatures for 19 genetic disorders, including those associated with intellectual disability and congenital anomalies.
Researchers identified unique epigenetic signatures for nine neurodevelopmental disorders, enabling better diagnosis with minimal clinical overlap. The signatures can be used to screen for multiple syndromes simultaneously and distinguish between similar cases.
Researchers found individuals with autism spectrum disorders have significantly decreased metabolism of amino acid L-tryptophan, leading to potential early blood screening tests. The study also identified genes involved in L-tryptophan metabolism, paving the way for therapeutic options.